© 2014, Wiley Periodicals, Inc. DOI: 10.1111/echo.12718
Echocardiography
Bad Company: Supracristal VSD Presenting with Ruptured Sinus of Valsalva Aneurysm. A Case Presentation with Echocardiographic Depiction and an Analysis of Contemporary Literature Gregory R. Hartlage, M.D.,* Michelle A. Consolini, M.D.,* Maria A. Pernetz, R.D.C.S.,* B. Robinson Williams, III, M.D.,* Stephen D. Clements, M.D.,* Edward P. Chen, M.D.† and S. Tanveer Rab, M.D.* *Department of Medicine, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia; and †Department of Surgery, Division of Cardiothoracic Surgery, Emory University School of Medicine, Atlanta, Georgia
Supracristal ventricular septal defect (SCVSD), a defect of the infundibular portion of the interventricular septum just below the right aortic cusp, occurs more frequently in Eastern Asian populations. SCVSD may be complicated by right sinus of Valsalva aneurysm (SoVA). We present the case of a 26-year-old male of Korean descent with a history of a childhood murmur who was referred to our institution for progressive heart failure symptoms. He was diagnosed with SCVSD and ruptured right SoVA based on history, physical exam, and echocardiography including three-dimensional transesophageal echocardiography with reconstructed surgical views. The patient underwent SCVSD closure, SoVA excision, and valve-sparing aortic root replacement. We reviewed the echocardiography literature regarding SCVSD and SoVA, and analyzed contemporary literature of SoVA and its relationship with SCVSD. We conclude that a higher prevalence of ruptured SoVA in Eastern Asians is likely related to a higher prevalence of underlying SCVSD in this population. (Echocardiography 2015;32:575–583) Key words: supracristal VSD, sinus of Valsalva aneurysm, rupture of the sinus of Valsalva, echocardiography, three-dimensional echocardiography Supracristal ventricular septal defect (SCVSD) is a rare congenital defect in the United States, but occurs more frequently in Eastern Asian populations (i.e. Chinese, Japanese, and Korean). The defect is located in the infundibular portion of the interventricular septum just below the right aortic cusp. SCVSD may be complicated by prolapse of the right aortic cusp into the right ventricular outflow tract, aortic regurgitation, and right sinus of Valsalva aneurysm (SoVA). Case Presentation: A 26-year-old male of Korean descent was referred to our institution for 6 months of progressive shortness of breath with decreased exercise tolerance and 2 months of progressive lower extremity edema. The patient had a history of a cardiac murmur in childhood. His symptoms at the time of presentation were New York Heart Address for correspondence and reprint requests: Gregory R. Hartlage, M.D., 335 Southerland Terrace, Atlanta, GA 30307. Fax: 866-665-7960; E-mail: [email protected]
Association classification class III. His local physician had started him on oral furosemide with improvement in these symptoms. On physical examination, blood pressure was 160/60 mmHg, heart rate 90 beats per minute, there was the presence of a “water hammer” carotid pulse (hyperdynamic with brisk palpable diastolic collapse), palpable diastolic cardiac thrill, grade III/ VI continuous murmur at the sternal border with augmentation in diastole, lungs clear to auscultation, and no peripheral edema. Transthoracic echocardiography (TTE) (General Electric, Milwaukee, WI, USA) revealed left to right shunting at the level of the aortic root in the region of an enlarged right coronary cusp (Fig. 1A and 1B, and movie clip S1). Doppler evaluation of the shunt and descending aorta are shown in Figure 1C and 1D. There was a mild valvular aortic regurgitation. The left ventricle was dilated (end-diastolic diameter 6.9 cm) with normal systolic function and left atrial enlargement. The interventricular septum deviated toward the left ventricle, which assumed a “D” shape in early diastole. The right ventricle was 575
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Figure 1. Aortic root evaluation by TTE. Parasternal long-axis views in systole A. and diastole B. demonstrate a focal protrusion of the right coronary sinus (green arrows) with continuous left to right flow seen on color Doppler and spectral Doppler C. Spectral Doppler of the descending aorta shows holodiastolic flow reversal D. AV=aortic valve; PA=pulmonary artery.
grossly normal in size and function, with the right ventricular systolic pressure estimated to be 49 mmHg. The differential diagnosis of the abnormal aortic root findings included congenital SoVA, SoVA related to unsupported aortic
annulus with underlying SCVSD, or postendocarditis SoVA. Transesophageal echocardiogram (TEE) (Philips, Leiden, The Netherlands) revealed a focal protrusion of the right sinus of Valsalva with
Figure 2. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 2DTEE. Mid-esophageal long-axis view of the left ventricular outflow tract demonstrating A. supracristal VSD (cyan arrow) and right sinus of Valsalva aneurysm (green arrow) and B. color Doppler in systole demonstrating distinct left to right flow through the VSD and sinus of Valsalva aneurysm, diagnostic of rupture. Ao = aorta; LA = left atrium; LV = left ventricle; RV = right ventricle.
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Figure 3. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 3DTEE reconstructed surgical views and actual surgical views. The supracristal VSD (cyan arrows) is demonstrated on A. full volume 3DTEE “aortic root lookdown” view in systole with aortic valve opened and B. under direct visualization at surgery with the aortic valve leaflets retracted. The ruptured sinus of Valsalva aneurysm (green arrows) is demonstrated on C. full volume 3DTEE “aortic root lookdown” view in diastole with closed aortic valve and D. under direct visualization at surgery with the right coronary cusp closed. LV = left ventricle; PV = pulmonic valve; TV = tricuspid valve.
continuous shunting into the right ventricular outflow tract (RVOT) on color Doppler, confirming a ruptured right SoVA. A small SCVSD immediately below the aortic valve with systolic shunting into the RVOT was also visualized, measuring 5.3 mm (Fig. 2 and movie clip S1). The maximum aortic root dimension measured 4.2 cm at the sinuses (excluding the SoVA) and there was a mild prolapse of the right coronary cusp. The aortic annulus measured 2.5 cm, the sinotubular junction 2.7 cm, and the proximal ascending aorta 2.8 cm. Three-dimensional TEE (3DTEE) revealed two distinct orifices situated below the aortic annulus (visualized in systole) and above the aortic annulus (visible in diastole) as viewed in a surgical “aortic root lookdown” view on full volume imaging (Fig. 3A and 3C and movie clips S3 and S4). Subsequent gated cardiac computed tomography scan confirmed the echocardiographic aortic root findings and further revealed patent coronary arteries with normal origins and mild-tomoderate enlargement of the right atrium and ventricle. The patient did not undergo invasive cardiac catheterization prior to surgery.
At surgical intervention, the aortic root was accessed via the transaortic route at the level of the sinotubular junction. On direct inspection, the SCVSD was easily identified below the right coronary cusp upon opening of the aortic valve leaflets (Fig. 3B). The right sinus of Valsalva was dilated with thin aortic tissue and a “windsock” appearing fistulous connection to the right ventricle (Fig. 3D). The abnormal right sinus tissue, including the fistula, was excised and the RVOT was repaired with an autologous pericardial patch. The SCVSD was repaired with an autologous pericardial patch, as well. The aortic valve was inspected and not felt to be in need of repair due to pliable leaflets with adequate coaptation. Given the enlarged aortic root dimensions (excluding the SoVA) and the patient’s young age, the aortic root was replaced with a 34-mm Gelweave graft (Vascutek, Renfrewshire, United Kingdom) with reimplantation of the coronary arteries (David procedure). The patient recovered uneventfully from surgery and was discharged within 48 hours. At 3 months postoperation, the patient had no significant physical limitations 577
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and was cleared for return to work. The patient did not return for a follow-up echocardiogram. Typical Presentation of Supracristal VSD and Ruptured Sinus of Valsalva: Patients often have no symptoms related to isolated SCVSD or SCVSD with SoVA prior to rupture.1 These patients will most likely present with an asymptomatic murmur in childhood. If symptoms do exist, they could be related to congestive heart failure from significant aortic regurgitation related to aortic cusp prolapse or pulmonary hypertension related to significant left to right shunting.2 Of SCVSD patients who develop SoVA, the majority will rupture prior to presentation.1 The most common presentations of ruptured SoVA are fatigability, dyspnea, and chest pain. Around a quarter of patients with ruptured SoVA will have more than one symptom. About one in five ruptured SoVA patients are asymptomatic and diagnosed by the presence of an incidental continuous machinery type murmur with diastolic augmentation.3 Supracristal VSD: Supracristal VSD (SCVSD; also known as doubly committed subarterial, subarterial infundibular, subpulmonic, conal, or type I VSD) results from the absence of the subpulmonary muscular infundibulum with a consequent fibrous continuity between the aortic and pulmonic valves.4 The proportion of VSDs classified as supracristal in Asian populations is reported to be around 20% versus about 5% in Western populations.5 Acquired aortic valve deformity is common and progressive, with the prevalence of aortic valve prolapse being 1% at 1 year of age and 70% at 15 years of age. In contrast, the overall incidence of aortic valve prolapse is around 16% in the case of perimembranous VSD, in which the muscular infundibulum is intact.5 Aortic regurgitation generally develops between ages 5 and 8 in patients with SCVSD and significant aortic valve prolapse. Pulmonary hypertension is present in about a quarter of patients and only rarely coexists with aortic prolapse, likely due to larger, less restrictive VSDs resulting in less Venturi effect on the sinus tissue due to similar left and right ventricular pressures.1 Early surgery, prior to or at the onset of aortic valve remodeling is suggested,6–8 although SCVSDs less than 5 mm in diameter without coexistent aortic valve remodeling may be monitored. Echocardiographically, SCVSDs are best viewed in the parasternal long and short axes (Fig. 4A and 4B), and in the subcostal view. The correlation between echocardiographic and surgical findings is excellent in the reported literature.2 Two-dimensional imaging 578
Figure 4. Supracristal VSD evaluation by TTE. Parasternal long-axis A. and short-axis B. views demonstrating VSD directly below the right aortic cusp (white arrow). Contiguous sinuses of the aortic and pulmonary valve (white arrow head) are due to the absence of the subpulmonary muscular infundibulum C. Ao = aorta; AV = aortic valve; LA = left atrium; LV = left ventricle; PA = pulmonary artery; PV = pulmonic valve; RA = right atrium; RV = right ventricle.
will reveal contiguous sinuses of the aortic and pulmonary valves, without interposed outlet septum (our patient’s findings are shown in
Supracristal VSD and Sinus of Valsalva Aneurysm
Fig. 4C). Herniation of the right aortic sinus into the RVOT is not uncommon, and may appear as a subtle protrusion toward the RVOT early in the course. Progressive herniation may distort the leaflet and obscure the VSD in more severe cases, and measuring from the base of the herniated sinus to the sinus-muscular septum interface can approximate the true diameter of the VSD in such cases. Systolic pulmonary valve flutter on M-mode has also been described with SCVSD.2 Continuous wave and color Doppler will demonstrate high velocity systolic flow into the RVOT and pulmonary artery as seen on our patient’s TEE in Figure 2. 3DTEE may be useful for creation of en face and anatomical reconstructions revealing the precise location of the VSD, dynamic VSD characterization, and evaluation of coexistent abnormalities of adjacent structures as seen in Figure 3A and 3C.9,10 Sinus of Valsalva Aneurysm: Sinus of Valsalva aneurysms (SoVA) are due to localized weakness or discontinuity of the lamina elastica of the aortic sinus media, predisposing to progressive expansion of the adjacent aortic sinus.11 SoVA is present in less than 1% of the Western population; however, its prevalence is reported as up to 3% in Eastern Asian patients.12 The typical age at presentation is the mid-twenties with a 5:1 Asian predominance. SCVSD appears to be a predisposing factor for SoVA, likely related to limited annular support of the
aortic elastica due to failure of the embryologic conal ridges to fuse. Indeed, up to 90% of aneurysms involving the right coronary sinus coexist with a SCVSD in reported series (see Table I). The incidence of VSD found surgically likely exceeds those found by echocardiography due to frequent obscuration of the VSD by the herniated SoVA. SoVA due to the congenital absence of the annular lamina elastic, without coexistent VSD, does exist in a minority of cases, and some debate exists regarding whether the SoVA associated with SCVSD should be classified as a separate entity from congenital SoVA.13 Postendocarditis, SoVA may occur secondary to an aortic ring abscess with a potential fistulous communication. Echocardiographically, SoVAs can be seen in the parasternal long and short-axis views of the aortic root and right ventricular outflow tract, as well as the apical five-chamber view, as shown for our patient in Figure 5.14 The reported sensitivity, specificity, and diagnostic accuracy of TTE are reported at 93.9%, 99.9%, and 99.8%, respectively, relative to surgery in a cohort of over 200 patients.14 TEE can play a complementary or confirmatory role in diagnosis and surgical planning. Aneurysm size, origin, and termination, as well as location of rupture if present, may vary greatly. Protuberant or ruptured aneurysms may demonstrate systolic collapse and diastolic expansion throughout the cardiac cycle (as seen in our patient in movie clip S1).14 The ruptured sinus of Valsalva aneurysm will have a left to right
TABLE I Ruptured Sinus of Valsalva Aneurysms Citation (year) 25
Abe et al. Chu et al.12 Hamid et al.26 van Son et al.27 Pannu et al.23 Au et al.28 Kirali et al.29 Azakie et al.30 Dong et al.31 Murashita et al.32 Lin et al.33 Wang et al.34 Dong et al.35 Jung et al.36 Liu et al.37 Menon et al.38 Total
Number of patients 31 57 25 31 20 53 20 34 67 35 17 83 43 56 210 33 815
Age (years) 23 29.5 26 29 25.2 35.8 28.3 31.6 32 27.5 33.5 30.7 29 33.2 33 27.8 29.7
VSD (%) 52 53 84 52 65 49 30 53 48 54 41 46 60 73 51 42 53
Supracristal VSD* (%) 81 90 100 94 92 85 100 78 91 95 71 66 92 78 83 64 84
RCS (%)
RV (%)
94 81 88 77 70 77 90 79 78 86 71 89 79 82 82 73 82
97 77 80 68 70 64 70 68 57 69 65 63 70 73 62 64 67
RA (%) 3 19 8 32 35 21 25 32 39 29 18 36 19 27 36 30 29
>1 + AI (%) 39 19 0 42 10 43 20 29 16 26 47 12 35 14 53 30 32
% is percent of patients unless otherwise noted. AI = aortic insufficiency; RA = right atrium; RCS = right coronary sinus; RV = right ventricle; VSD = ventricular septal defect. *Denotes percent of patients with VSD.
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Figure 5. Sinus of Valsalva aneurysm evaluation by TTE. Parasternal long-axis A. parasternal short-axis B., and apical fivechamber C. views demonstrating a SoVA of the right coronary sinus. LA = left atrium; LV = left ventricle; PA = pulmonary artery; RA = right atrium; RV = right ventricle.
shunt with a continuous high velocity jet (greater than 3.5 m/sec), with lower velocity in systole (Fig. 1C). Associated lesions such as VSD, stenosis of the right ventricular outflow tract, and aortic valvular malformation should also be assessed. The presence and severity of coexistent aortic regurgitation vary greatly.14 Involvement of the right aortic sinus is exclusive in SoVA in the setting of a SCVSD. Prolapse and broad-based aneurysmal dilatation of an entire aortic sinus is characteristic.13 Right aortic cusp prolapse with a posteriorly directed aortic regurgitant jet can be seen, with moderate-tosevere aortic regurgitation in up to 50% of those with SCVSD. In the setting of SCVSD, rupture most commonly occurs into the right ventricle followed by the right atrium. In contrast, the congenital SoVA may involve any coronary sinus (right coronary sinus in up to 80%, followed by the noncoronary sinus in about 20%, with the left coronary sinus or multiple sinuses occasionally involved) and may rupture into any cardiac chamber or the pericardium. Typically, congenital SoVA has a narrow neck with windsock-like protrusion into neighboring structures; however, ruptured SoVA associated with supracristal VSD may also have this appearance, as seen in our patient. Postendocarditis SoVA is likely to be associated with vegetations and involvement of the intervalvular fibrosa, with more frequent rupture into left-sided chambers.13 3DTEE may be helpful for identification of presence and location of rupture in difficult cases, regardless of SoVA etiology (see movie clip S5).15–17 SoVAs account for less than 5% of open-heart surgeries, even in higher prevalence regions.18 About 50% of SoVAs are now operated on prior to rupture, due to the high risk of aortic cusp 580
prolapse and progressive aortic regurgitation if left untreated. Contemporary repair has generally low perioperative mortality and durable longterm results.18 Early stage aneurysms with prolapse are frequently amenable to surgical repair, however, the longer left untreated, with more progressive cusp prolapse and more severe aortic regurgitation, the more likely they are to require aortic valve replacement.19 Early intervention will also prevent rupture, a generally highly symptomatic acute condition that may be the heralding feature of a long undetected SoVA. Once ruptured, mean survival may range from weeks to 1–2 years if left untreated.13,18 Supracristal VSD Presenting with Ruptured Sinus of Valsalva Aneurysm: Observational studies suggest that SoVA may coexist in up to 10% of SCVSDs, with increasing incidence with age. The presence of SoVA with SCVSD is rare before age 10, with rupture occurring most frequently in the third decade. Of patients diagnosed with SCVSD after the age of 20, 61% had coexistent SoVA, the majority of which (91%) had ruptured.1 SoVA initially develops as prolapse of the Sinus of Valsalva into the SCVSD, with later aneuyrsmal deformity and adhesion. Herniation of the right aortic sinus through the defect occurs in diastole due to expansion of the sinus from high central aortic pressure, in early systole due to left to right shunting producing a Venturi effect, and in late systole due to direct pressure from the left ventricle.20 SCVSD associated with SoVA is often less than 1 cm in diameter, with a scimitar shape or bow, suggesting adhesion of the Sinus of Valsalva to the VSD margin. Furthermore, smaller defects with higher interventricular gradients may be
Supracristal VSD and Sinus of Valsalva Aneurysm
more likely to contribute to valvular prolapse due to the Venturi effect. Echocardiography is reported to have a sensitivity, specificity, and diagnostic accuracy of 89.2%, 99.9%, and 99.0% for identification of cardiovascular lesions coexistent with SoVA.14 Although coexistent VSDs are rarely missed, they may be misclassified by echocardiography in about 9% of patients, likely due to supracristal VSDs being mistaken for infracristal VSDs due to herniated cusp tissue. Recognition of even the smallest SCVSD associated with SoVA is critical for surgical planning, as surgical reinforcement of the defect can preserve aortic and pulmonic valve function. The diagnosis of rupture of a SoVA may be more difficult in the presence of a VSD, particularly in the presence of significant aortic regurgitation that adds a diastolic Doppler flow component to that of the systolic VSD flow, appearing as continuous or biphasic flow in summation. Additionally, a high velocity VSD jet may obscure or redirect the flow of smaller SoVAs, resulting in misdiagnosis.14 In general, the continuity of the SoVA wall should be scanned with close attention, in multiple planes, with particular care to identify isolated jets on Doppler with the distinct characteristics of VSD and/or ruptured sinus of Valsalva flow. 3DTEE may be extremely useful in such cases, as en face cropping can be done separately for each defect in different anatomic planes (see movie clip S5) and 3D color Doppler can further delineate differential flow in the VSD and the ruptured SoVA.10,21 The presence of biventricular enlargement in the setting of ruptured SoVA into a right-sided
chamber with minimal valvular aortic regurgitation, as initially seen in our patient by TTE, is highly suggestive of coexistent ventricular septal defect. Left ventricular enlargement due to systolic VSD flow is a chronic progressive entity beginning in childhood and may be the sole hemodynamic footprint of a previously nonrestrictive SCVSD that might be unapparent at the time of SoVA diagnosis. On the other hand, significant pulmonary hypertension and right ventricular enlargement related to ruptured SoVA are not consistent findings in the literature.12,22,23 When present, right ventricular enlargement most likely represents an acute finding due to excessive diastolic flow from the aorta into the right-sided chambers, and may be associated with echocardiographic markers of right ventricular volume overload, such as a “D” shaped septum in diastole, which was seen in our patient, as well. The higher prevalence of sinus of Valsalva aneurysms reported in Eastern Asian populations is associated with more frequent right coronary sinus origin, more frequent rupture into the right ventricle, and more frequent coexistence of a SCVSD.14 The vast majority of patients with SoVA coexistent with SCVSD present with rupture,1 furthermore, of patients presenting with ruptured SoVA in the literature, more than half present with a VSD (53%), with most of these (82%) reported to be SCVSD (see Table I). An analysis of aggregate data from large studies including patients presenting with SoVA regardless of rupture is presented in Table II. The data analysis demonstrates a significant correlation between SoVA rupture and younger age at presentation,
TABLE II Sinus of Valsalva Aneurysms (Including Patients Presenting with and without Rupture) Citation (year) 39
Meyer et al. Choudhary et al.22 Takach et al.40 Vural et al.41 Li et al.42 Moustafa et al.3 Yan et al.43 Guo et al.44 Liu et al.37 Cheng et al.14 Total
Number of patients 45 104 129 53 216 86 100 257 255 212 1457
†
Age (years) 35.3 27.5 39.1 24 29.4 53 31 32 32.2 33
Rupture†‡§ (%) 51 88 50 64 87 34 94 86 83 72 76
VSDঠ(%) 11 44 12 34 66 31 42 56 58 53 48
RCS§¶ (%) 62 77 60 66 79 70 71 82 83 78 76
RV* (%) 70 66 66 59 80 62 62 63 63 68 67
RA* (%) 17 27 31 38 19 38 36 37 35 28 31
>1 + AI (%) 60 43 9 9 28 37 22 43 36 28 32
% is percent of patients unless otherwise noted. AI = aortic insufficiency; RA = right atrium; RCS = right coronary sinus; RV = right ventricle; VSD = ventricular septal defect. *Denotes percent of patients with rupture. † Correlation for age and rupture (Pearson r = 0.72, P = 0.02). ‡ Correlation for rupture and presence of VSD (Pearson r = 0.734, P = 0.016). § Correlation for rupture and RCC location of aneurysm (Pearson r = 0.69, P = 0.027). ¶ Correlation for VSD and RCC location of aneurysm (Pearson r = 0.94, P < 0.0001).
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right coronary cusp aneurysm location, and the presence of VSD. There was also a significant correlation between VSD presence and right coronary sinus aneurysm location. As previously stated, aortic valve deformity at a younger age and right coronary sinus aneurysm location are both associated with SCVSD. Although patient ethnicity was not routinely reported in the studies included in our analysis, we surmise that the greater prevalence of right coronary cusp involvement and rupture reported in Eastern Asian populations is likely related to a higher prevalence of coexistent SCVSD in this population. Surgical Correction: Anatomic correction of SCVSD with coexistent SoVA involves plication of the sinus, with closure of the VSD at the ventricular crest, elevation of the cusp, and preservation or restoration of competence of the aortic valve.20 A VSD patch repair may be necessary in the absence of an adequate conal muscular rim. VSD repair prevents further sinus herniation, even in the setting of residual shunting, suggesting adequate support is more important than complete closure of the SCVSD for preventing further aortic valve distortion.2 Significant aortic cusp prolapse may require additional aortic intervention in the form of valvuloplasty in the case of pliable cusps or valve replacement in the case of stiff and retracted cusps.6 Structural derangement of the right aortic sinus may require extensive excision of aortic sinus tissue, and significant aortic root deformity or enlargement may necessitate partial or complete root replacement,24 as was the case in our patient. Contraindications to surgical repair of SCVSD (with or without SoVA) include severe right ventricular dysfunction and/or Eisenmenger’s physiology. Conclusions: SCVSD likely accounts for a significant proportion of SoVA, which are particularly prone to rupture. The combination of SCVSD and SoVA is not uncommon in Asian populations, likely due to a much higher prevalence of SCVSD in Eastern Asians than in Western populations. Given the continued diversification of the American population, cardiovascular specialists and echocardiographers should be aware of this association regardless of practice location. The combination of 2D and 3D echocardiography can establish the correct diagnosis and facilitate surgical planning prior to repair. References 1. Momma K, Toyama K, Takao A, et al: Natural history of subarterial infundibular ventricular septal defect. Am Heart J 1984;108:1312–1317.
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2. Schmidt KG, Cassidy SC, Silverman NH, et al: Doubly committed subarterial ventricular septal defects: Echocardiographic features and surgical implications. J Am Coll Cardiol 1988;12:1538–1546. 3. Moustafa S, Mookadam F, Cooper L, et al: Sinus of Valsalva aneurysms–47 years of a single center experience and systematic overview of published reports. Am J Cardiol 2007;99:1159–1164. 4. McCarthy K, Ho S, Anderson R: Ventricular septal defects: Morphology of the doubly committed juxtaarterial and muscular variants. Images Paediatr Cardiol 2000;2:5–23. 5. Layangool T, Kirawittaya T, Sangtawesin C, et al: Natural aortic valve complications of ventricular septal defect: A prospective cohort study. J Med Assoc Thai 2008;91(Suppl 3):S53–S59. 6. Cheung YF, Chiu CS, Yung TC, et al: Impact of preoperative aortic cusp prolapse on long-term outcome after surgical closure of subarterial ventricular septal defect. Ann Thorac Surg 2002;73:622–627. 7. Lun K, Li H, Leung MP, et al: Analysis of indications for surgical closure of subarterial ventricular septal defect without associated aortic cusp prolapse and aortic regurgitation. Am J Cardiol 2001;87:1266–1270. 8. Tohyama K, Satomi G, Momma K: Aortic valve prolapse and aortic regurgitation associated with subpulmonic ventricular septal defect. Am J Cardiol 1997;79:1285– 1289. 9. Masaki N, Iwatsuka R, Nagahori W, et al: Threedimensional echocardiography could distinguish a ventricular septal defect adjacent to asymptomatic ruptured sinus of valsalva aneurysm. J Cardiol 2008;51: 139–143. 10. Saran RK, Kharwar RB, Dwivedi SK, et al: Ruptured sinus of valsalva with ventricular septal defect: Evaluation by 3-dimensional echocardiography: Advantage of the third dimension. J Am Coll Cardiol 2013;62:e443. 11. Angelini P: Aortic sinus aneurysm and associated defects: Can we extrapolate a morphogenetic theory from pathologic findings? Tex Heart Inst J 2005;32:560–562. 12. Chu SH, Hung CR, How SS, et al: Ruptured aneurysms of the sinus of Valsalva in Oriental patients. J Thorac Cardiovasc Surg 1990;99:288–298. 13. Meier JH, Seward JB, Miller FA Jr, et al: Aneurysms in the left ventricular outflow tract: Clinical presentation, causes, and echocardiographic features. J Am Soc Echocardiogr 1998;11:729–745. 14. Cheng TO, Yang YL, Xie MX, et al: Echocardiographic diagnosis of sinus of Valsalva aneurysm: a 17-year (19952012) experience of 212 surgically treated patients from one single medical center in China. Int J Cardiol 2014;173:33–39. 15. Chandra S, Vijay SK, Dwivedi SK, et al: Delineation of anatomy of the ruptured sinus of Valsalva with threedimensional echocardiography: The advantage of the added dimension. Echocardiography 2012;29:E148–E151. 16. Raslan S, Nanda NC, Lloyd L, et al: Incremental value of live/real time three-dimensional transesophageal echocardiography over the two-dimensional technique in the assessment of sinus of valsalva aneurysm rupture. Echocardiography 2011;28:918–920. 17. Vatankulu MA, Tasal A, Erdogan E, et al: The role of three-dimensional echocardiography in diagnosis and management of ruptured sinus of valsalva aneurysm. Echocardiography 2013;30:E260–E262. 18. Sarikaya S, Adademir T, Elibol A, et al: Surgery for ruptured sinus of Valsalva aneurysm: 25-year experience with 55 patients. Eur J Cardiothorac Surg 2013;43:591– 596. 19. Naka Y, Kadoba K, Ohtake S, et al: The long-term outcome of a surgical repair of sinus of valsalva aneurysm. Ann Thorac Surg 2000;70:727–729.
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20. Yacoub MH, Khan H, Stavri G, et al: Anatomic correction of the syndrome of prolapsing right coronary aortic cusp, dilatation of the sinus of Valsalva, and ventricular septal defect. J Thorac Cardiovasc Surg 1997;113:253–260; discussion 261. 21. Gadhinglajkar S, Sreedhar R: Surgery for ruptured sinus of valsalva aneurysm into right ventricular outflow tract: Role of intraoperative 2D and real time 3D transesophageal echocardiography. Echocardiography 2010;27:E65– E69. 22. Choudhary SK, Bhan A, Sharma R, et al: Sinus of Valsalva aneurysms: 20 years’ experience. J Card Surg 1997;12: 300–308. 23. Pannu HS, Shivaprakash K, Bazaz S, et al: Geographical variations in the presentation of ruptured aneurysms of sinuses of valsalva: Evaluation of surgical repair. J Card Surg 1995;10:316–324. 24. Osada H, Kyogoku M, Fujino T, et al: Partial aortic root replacement for aneurysm of the right sinus of Valsalva. Asian Cardiovasc Thorac Ann 2014 Feb 4 [Epub ahead of print]. 25. Abe T, Komatsu S: Surgical repair and long-term results in ruptured sinus of Valsalva aneurysm. Ann Thorac Surg 1988;46:520–525. 26. Hamid IA, Jothi M, Rajan S, et al: Transaortic repair of ruptured aneurysm of sinus of Valsalva. Fifteen-year experience. J Thorac Cardiovasc Surg 1994;107:1464–1468. 27. van Son JA, Danielson GK, Schaff HV, et al: Long-term outcome of surgical repair of ruptured sinus of Valsalva aneurysm. Circulation 1994;90:II20–II29. 28. Au WK, Chiu SW, Mok CK, et al: Repair of ruptured sinus of valsalva aneurysm: Determinants of long-term survival. Ann Thorac Surg 1998;66:1604–1610. 29. Kirali K, Guler M, Daglar B, et al: Surgical repair in ruptured congenital sinus of Valsalva aneurysms: A 13-year experience. J Heart Valve Dis 1999;8:424–429. 30. Azakie A, David TE, Peniston CM, et al: Ruptured sinus of valsalva aneurysm: Early recurrence and fate of the aortic valve. Ann Thorac Surg 2000;70:1466–1470; discussion 1470-1. 31. Dong C, Wu QY, Tang Y: Ruptured sinus of valsalva aneurysm: A Beijing experience. Ann Thorac Surg 2002;74: 1621–1624. 32. Murashita T, Kubota T, Kamikubo Y, et al: Long-term results of aortic valve regurgitation after repair of ruptured sinus of valsalva aneurysm. Ann Thorac Surg 2002;73:1466–1471. 33. Lin CY, Hong GJ, Lee KC, et al: Ruptured congenital sinus of valsalva aneurysms. J Card Surg 2004;19:99–102. 34. Wang ZJ, Zou CW, Li DC, et al: Surgical repair of sinus of Valsalva aneurysm in Asian patients. Ann Thorac Surg 2007;84:156–160. 35. Dong R, Chen BT, Meng X, et al: Long-term results of surgical repair of ruptured sinus of aortic sinus aneurysm. Zhonghua wai ke za zhi [Chinese journal of surgery] 2008;46:1913–1915. 36. Jung SH, Yun TJ, Im YM, et al: Ruptured sinus of Valsalva aneurysm: Transaortic repair may cause sinus of Valsalva distortion and aortic regurgitation. J Thorac Cardiovasc Surg 2008;135:1153–1158. 37. Liu YL, Liu AJ, Ling F, et al: Risk factors for preoperative and postoperative progression of aortic regurgitation in
38. 39.
40. 41. 42. 43. 44.
congenital ruptured sinus of Valsalva aneurysm. Ann Thorac Surg 2011;91:542–548. Menon S, Kottayil B, Panicker V, et al: Ruptured sinus of Valsalva aneurysm: 10-year Indian surgical experience. Asian Cardiovasc Thorac Ann 2011;19:320–323. Meyer J, Wukasch DC, Hallman GL, et al: Aneurysm and fistula of the sinus of Valsalva. Clinical considerations and surgical treatment in 45 patients. Ann Thorac Surg 1975;19:170–179. Takach TJ, Reul GJ, Duncan JM, et al: Sinus of Valsalva aneurysm or fistula: Management and outcome. Ann Thorac Surg 1999;68:1573–1577. Vural KM, Sener E, Tasdemir O, et al: Approach to sinus of Valsalva aneurysms: A review of 53 cases. Eur J Cardiothorac Surg 2001;20:71–76. Li F, Chen S, Wang J, et al: Treatment and outcome of sinus of valsalva aneurysm. Heart Lung Circ 2002;11:107– 111. Yan F, Huo Q, Qiao J, et al: Surgery for sinus of valsalva aneurysm: 27-year experience with 100 patients. Asian Cardiovasc Thorac Ann 2008;16:361–365. Guo HW, Xiong H, Xu JP, et al: A new and simple classification for sinus of Valsalva aneurysms and the corresponding surgical procedure. Eur J Cardiothorac Surg 2013;43:1188–1193.
Supporting Information Additional Supporting Information may be found in the online version of this article: Movie clip S1. Aortic root evaluation by TTE. Note systolic collapse and diastolic expansion of SoVA. Color Doppler demonstrates left to right flow in systole and diastole. (Chamber labels same as Fig. 1). Movie clip S2. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 2DTEE. Demonstrates two distinct lesions and respective shunts of the SCVSD and ruptured SoVA. (Chamber labels same as Fig. 2). Movie clip S3. Supracristal VSD on 3DTEE reconstructed surgical view. White arrow demonstrates SCVSD. (Chamber labels same as Fig. 3A and C) Movie clip S4. Ruptured right sinus of Valsalva aneurysm on 3DTEE reconstructed surgical view. White arrow demonstrates ruptured SoVA. (Chamber labels same as Fig. 3). Movie clip S5. Ruptured right sinus of Valsalva aneurysm on 3DTEE orthogonal view. White arrow demonstrates ruptured SoVA protruding into the right ventricular outflow tract. PV = pulmonic valve; RV = right ventricle; TV = tricuspid valve.
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Bad Company: Supracristal VSD Presenting with Ruptured Sinus of Valsalva Aneurysm. A Case Presentation with Echocardiographic Depiction and an Analysis of Contemporary Literature Gregory R. Hartlage, M.D.,* Michelle A. Consolini, M.D.,* Maria A. Pernetz, R.D.C.S.,* B. Robinson Williams, III, M.D.,* Stephen D. Clements, M.D.,* Edward P. Chen, M.D.† and S. Tanveer Rab, M.D.* *Department of Medicine, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia; and †Department of Surgery, Division of Cardiothoracic Surgery, Emory University School of Medicine, Atlanta, Georgia
Supracristal ventricular septal defect (SCVSD), a defect of the infundibular portion of the interventricular septum just below the right aortic cusp, occurs more frequently in Eastern Asian populations. SCVSD may be complicated by right sinus of Valsalva aneurysm (SoVA). We present the case of a 26-year-old male of Korean descent with a history of a childhood murmur who was referred to our institution for progressive heart failure symptoms. He was diagnosed with SCVSD and ruptured right SoVA based on history, physical exam, and echocardiography including three-dimensional transesophageal echocardiography with reconstructed surgical views. The patient underwent SCVSD closure, SoVA excision, and valve-sparing aortic root replacement. We reviewed the echocardiography literature regarding SCVSD and SoVA, and analyzed contemporary literature of SoVA and its relationship with SCVSD. We conclude that a higher prevalence of ruptured SoVA in Eastern Asians is likely related to a higher prevalence of underlying SCVSD in this population. (Echocardiography 2015;32:575–583) Key words: supracristal VSD, sinus of Valsalva aneurysm, rupture of the sinus of Valsalva, echocardiography, three-dimensional echocardiography Supracristal ventricular septal defect (SCVSD) is a rare congenital defect in the United States, but occurs more frequently in Eastern Asian populations (i.e. Chinese, Japanese, and Korean). The defect is located in the infundibular portion of the interventricular septum just below the right aortic cusp. SCVSD may be complicated by prolapse of the right aortic cusp into the right ventricular outflow tract, aortic regurgitation, and right sinus of Valsalva aneurysm (SoVA). Case Presentation: A 26-year-old male of Korean descent was referred to our institution for 6 months of progressive shortness of breath with decreased exercise tolerance and 2 months of progressive lower extremity edema. The patient had a history of a cardiac murmur in childhood. His symptoms at the time of presentation were New York Heart Address for correspondence and reprint requests: Gregory R. Hartlage, M.D., 335 Southerland Terrace, Atlanta, GA 30307. Fax: 866-665-7960; E-mail: [email protected]
Association classification class III. His local physician had started him on oral furosemide with improvement in these symptoms. On physical examination, blood pressure was 160/60 mmHg, heart rate 90 beats per minute, there was the presence of a “water hammer” carotid pulse (hyperdynamic with brisk palpable diastolic collapse), palpable diastolic cardiac thrill, grade III/ VI continuous murmur at the sternal border with augmentation in diastole, lungs clear to auscultation, and no peripheral edema. Transthoracic echocardiography (TTE) (General Electric, Milwaukee, WI, USA) revealed left to right shunting at the level of the aortic root in the region of an enlarged right coronary cusp (Fig. 1A and 1B, and movie clip S1). Doppler evaluation of the shunt and descending aorta are shown in Figure 1C and 1D. There was a mild valvular aortic regurgitation. The left ventricle was dilated (end-diastolic diameter 6.9 cm) with normal systolic function and left atrial enlargement. The interventricular septum deviated toward the left ventricle, which assumed a “D” shape in early diastole. The right ventricle was 575
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Figure 1. Aortic root evaluation by TTE. Parasternal long-axis views in systole A. and diastole B. demonstrate a focal protrusion of the right coronary sinus (green arrows) with continuous left to right flow seen on color Doppler and spectral Doppler C. Spectral Doppler of the descending aorta shows holodiastolic flow reversal D. AV=aortic valve; PA=pulmonary artery.
grossly normal in size and function, with the right ventricular systolic pressure estimated to be 49 mmHg. The differential diagnosis of the abnormal aortic root findings included congenital SoVA, SoVA related to unsupported aortic
annulus with underlying SCVSD, or postendocarditis SoVA. Transesophageal echocardiogram (TEE) (Philips, Leiden, The Netherlands) revealed a focal protrusion of the right sinus of Valsalva with
Figure 2. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 2DTEE. Mid-esophageal long-axis view of the left ventricular outflow tract demonstrating A. supracristal VSD (cyan arrow) and right sinus of Valsalva aneurysm (green arrow) and B. color Doppler in systole demonstrating distinct left to right flow through the VSD and sinus of Valsalva aneurysm, diagnostic of rupture. Ao = aorta; LA = left atrium; LV = left ventricle; RV = right ventricle.
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Figure 3. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 3DTEE reconstructed surgical views and actual surgical views. The supracristal VSD (cyan arrows) is demonstrated on A. full volume 3DTEE “aortic root lookdown” view in systole with aortic valve opened and B. under direct visualization at surgery with the aortic valve leaflets retracted. The ruptured sinus of Valsalva aneurysm (green arrows) is demonstrated on C. full volume 3DTEE “aortic root lookdown” view in diastole with closed aortic valve and D. under direct visualization at surgery with the right coronary cusp closed. LV = left ventricle; PV = pulmonic valve; TV = tricuspid valve.
continuous shunting into the right ventricular outflow tract (RVOT) on color Doppler, confirming a ruptured right SoVA. A small SCVSD immediately below the aortic valve with systolic shunting into the RVOT was also visualized, measuring 5.3 mm (Fig. 2 and movie clip S1). The maximum aortic root dimension measured 4.2 cm at the sinuses (excluding the SoVA) and there was a mild prolapse of the right coronary cusp. The aortic annulus measured 2.5 cm, the sinotubular junction 2.7 cm, and the proximal ascending aorta 2.8 cm. Three-dimensional TEE (3DTEE) revealed two distinct orifices situated below the aortic annulus (visualized in systole) and above the aortic annulus (visible in diastole) as viewed in a surgical “aortic root lookdown” view on full volume imaging (Fig. 3A and 3C and movie clips S3 and S4). Subsequent gated cardiac computed tomography scan confirmed the echocardiographic aortic root findings and further revealed patent coronary arteries with normal origins and mild-tomoderate enlargement of the right atrium and ventricle. The patient did not undergo invasive cardiac catheterization prior to surgery.
At surgical intervention, the aortic root was accessed via the transaortic route at the level of the sinotubular junction. On direct inspection, the SCVSD was easily identified below the right coronary cusp upon opening of the aortic valve leaflets (Fig. 3B). The right sinus of Valsalva was dilated with thin aortic tissue and a “windsock” appearing fistulous connection to the right ventricle (Fig. 3D). The abnormal right sinus tissue, including the fistula, was excised and the RVOT was repaired with an autologous pericardial patch. The SCVSD was repaired with an autologous pericardial patch, as well. The aortic valve was inspected and not felt to be in need of repair due to pliable leaflets with adequate coaptation. Given the enlarged aortic root dimensions (excluding the SoVA) and the patient’s young age, the aortic root was replaced with a 34-mm Gelweave graft (Vascutek, Renfrewshire, United Kingdom) with reimplantation of the coronary arteries (David procedure). The patient recovered uneventfully from surgery and was discharged within 48 hours. At 3 months postoperation, the patient had no significant physical limitations 577
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and was cleared for return to work. The patient did not return for a follow-up echocardiogram. Typical Presentation of Supracristal VSD and Ruptured Sinus of Valsalva: Patients often have no symptoms related to isolated SCVSD or SCVSD with SoVA prior to rupture.1 These patients will most likely present with an asymptomatic murmur in childhood. If symptoms do exist, they could be related to congestive heart failure from significant aortic regurgitation related to aortic cusp prolapse or pulmonary hypertension related to significant left to right shunting.2 Of SCVSD patients who develop SoVA, the majority will rupture prior to presentation.1 The most common presentations of ruptured SoVA are fatigability, dyspnea, and chest pain. Around a quarter of patients with ruptured SoVA will have more than one symptom. About one in five ruptured SoVA patients are asymptomatic and diagnosed by the presence of an incidental continuous machinery type murmur with diastolic augmentation.3 Supracristal VSD: Supracristal VSD (SCVSD; also known as doubly committed subarterial, subarterial infundibular, subpulmonic, conal, or type I VSD) results from the absence of the subpulmonary muscular infundibulum with a consequent fibrous continuity between the aortic and pulmonic valves.4 The proportion of VSDs classified as supracristal in Asian populations is reported to be around 20% versus about 5% in Western populations.5 Acquired aortic valve deformity is common and progressive, with the prevalence of aortic valve prolapse being 1% at 1 year of age and 70% at 15 years of age. In contrast, the overall incidence of aortic valve prolapse is around 16% in the case of perimembranous VSD, in which the muscular infundibulum is intact.5 Aortic regurgitation generally develops between ages 5 and 8 in patients with SCVSD and significant aortic valve prolapse. Pulmonary hypertension is present in about a quarter of patients and only rarely coexists with aortic prolapse, likely due to larger, less restrictive VSDs resulting in less Venturi effect on the sinus tissue due to similar left and right ventricular pressures.1 Early surgery, prior to or at the onset of aortic valve remodeling is suggested,6–8 although SCVSDs less than 5 mm in diameter without coexistent aortic valve remodeling may be monitored. Echocardiographically, SCVSDs are best viewed in the parasternal long and short axes (Fig. 4A and 4B), and in the subcostal view. The correlation between echocardiographic and surgical findings is excellent in the reported literature.2 Two-dimensional imaging 578
Figure 4. Supracristal VSD evaluation by TTE. Parasternal long-axis A. and short-axis B. views demonstrating VSD directly below the right aortic cusp (white arrow). Contiguous sinuses of the aortic and pulmonary valve (white arrow head) are due to the absence of the subpulmonary muscular infundibulum C. Ao = aorta; AV = aortic valve; LA = left atrium; LV = left ventricle; PA = pulmonary artery; PV = pulmonic valve; RA = right atrium; RV = right ventricle.
will reveal contiguous sinuses of the aortic and pulmonary valves, without interposed outlet septum (our patient’s findings are shown in
Supracristal VSD and Sinus of Valsalva Aneurysm
Fig. 4C). Herniation of the right aortic sinus into the RVOT is not uncommon, and may appear as a subtle protrusion toward the RVOT early in the course. Progressive herniation may distort the leaflet and obscure the VSD in more severe cases, and measuring from the base of the herniated sinus to the sinus-muscular septum interface can approximate the true diameter of the VSD in such cases. Systolic pulmonary valve flutter on M-mode has also been described with SCVSD.2 Continuous wave and color Doppler will demonstrate high velocity systolic flow into the RVOT and pulmonary artery as seen on our patient’s TEE in Figure 2. 3DTEE may be useful for creation of en face and anatomical reconstructions revealing the precise location of the VSD, dynamic VSD characterization, and evaluation of coexistent abnormalities of adjacent structures as seen in Figure 3A and 3C.9,10 Sinus of Valsalva Aneurysm: Sinus of Valsalva aneurysms (SoVA) are due to localized weakness or discontinuity of the lamina elastica of the aortic sinus media, predisposing to progressive expansion of the adjacent aortic sinus.11 SoVA is present in less than 1% of the Western population; however, its prevalence is reported as up to 3% in Eastern Asian patients.12 The typical age at presentation is the mid-twenties with a 5:1 Asian predominance. SCVSD appears to be a predisposing factor for SoVA, likely related to limited annular support of the
aortic elastica due to failure of the embryologic conal ridges to fuse. Indeed, up to 90% of aneurysms involving the right coronary sinus coexist with a SCVSD in reported series (see Table I). The incidence of VSD found surgically likely exceeds those found by echocardiography due to frequent obscuration of the VSD by the herniated SoVA. SoVA due to the congenital absence of the annular lamina elastic, without coexistent VSD, does exist in a minority of cases, and some debate exists regarding whether the SoVA associated with SCVSD should be classified as a separate entity from congenital SoVA.13 Postendocarditis, SoVA may occur secondary to an aortic ring abscess with a potential fistulous communication. Echocardiographically, SoVAs can be seen in the parasternal long and short-axis views of the aortic root and right ventricular outflow tract, as well as the apical five-chamber view, as shown for our patient in Figure 5.14 The reported sensitivity, specificity, and diagnostic accuracy of TTE are reported at 93.9%, 99.9%, and 99.8%, respectively, relative to surgery in a cohort of over 200 patients.14 TEE can play a complementary or confirmatory role in diagnosis and surgical planning. Aneurysm size, origin, and termination, as well as location of rupture if present, may vary greatly. Protuberant or ruptured aneurysms may demonstrate systolic collapse and diastolic expansion throughout the cardiac cycle (as seen in our patient in movie clip S1).14 The ruptured sinus of Valsalva aneurysm will have a left to right
TABLE I Ruptured Sinus of Valsalva Aneurysms Citation (year) 25
Abe et al. Chu et al.12 Hamid et al.26 van Son et al.27 Pannu et al.23 Au et al.28 Kirali et al.29 Azakie et al.30 Dong et al.31 Murashita et al.32 Lin et al.33 Wang et al.34 Dong et al.35 Jung et al.36 Liu et al.37 Menon et al.38 Total
Number of patients 31 57 25 31 20 53 20 34 67 35 17 83 43 56 210 33 815
Age (years) 23 29.5 26 29 25.2 35.8 28.3 31.6 32 27.5 33.5 30.7 29 33.2 33 27.8 29.7
VSD (%) 52 53 84 52 65 49 30 53 48 54 41 46 60 73 51 42 53
Supracristal VSD* (%) 81 90 100 94 92 85 100 78 91 95 71 66 92 78 83 64 84
RCS (%)
RV (%)
94 81 88 77 70 77 90 79 78 86 71 89 79 82 82 73 82
97 77 80 68 70 64 70 68 57 69 65 63 70 73 62 64 67
RA (%) 3 19 8 32 35 21 25 32 39 29 18 36 19 27 36 30 29
>1 + AI (%) 39 19 0 42 10 43 20 29 16 26 47 12 35 14 53 30 32
% is percent of patients unless otherwise noted. AI = aortic insufficiency; RA = right atrium; RCS = right coronary sinus; RV = right ventricle; VSD = ventricular septal defect. *Denotes percent of patients with VSD.
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Figure 5. Sinus of Valsalva aneurysm evaluation by TTE. Parasternal long-axis A. parasternal short-axis B., and apical fivechamber C. views demonstrating a SoVA of the right coronary sinus. LA = left atrium; LV = left ventricle; PA = pulmonary artery; RA = right atrium; RV = right ventricle.
shunt with a continuous high velocity jet (greater than 3.5 m/sec), with lower velocity in systole (Fig. 1C). Associated lesions such as VSD, stenosis of the right ventricular outflow tract, and aortic valvular malformation should also be assessed. The presence and severity of coexistent aortic regurgitation vary greatly.14 Involvement of the right aortic sinus is exclusive in SoVA in the setting of a SCVSD. Prolapse and broad-based aneurysmal dilatation of an entire aortic sinus is characteristic.13 Right aortic cusp prolapse with a posteriorly directed aortic regurgitant jet can be seen, with moderate-tosevere aortic regurgitation in up to 50% of those with SCVSD. In the setting of SCVSD, rupture most commonly occurs into the right ventricle followed by the right atrium. In contrast, the congenital SoVA may involve any coronary sinus (right coronary sinus in up to 80%, followed by the noncoronary sinus in about 20%, with the left coronary sinus or multiple sinuses occasionally involved) and may rupture into any cardiac chamber or the pericardium. Typically, congenital SoVA has a narrow neck with windsock-like protrusion into neighboring structures; however, ruptured SoVA associated with supracristal VSD may also have this appearance, as seen in our patient. Postendocarditis SoVA is likely to be associated with vegetations and involvement of the intervalvular fibrosa, with more frequent rupture into left-sided chambers.13 3DTEE may be helpful for identification of presence and location of rupture in difficult cases, regardless of SoVA etiology (see movie clip S5).15–17 SoVAs account for less than 5% of open-heart surgeries, even in higher prevalence regions.18 About 50% of SoVAs are now operated on prior to rupture, due to the high risk of aortic cusp 580
prolapse and progressive aortic regurgitation if left untreated. Contemporary repair has generally low perioperative mortality and durable longterm results.18 Early stage aneurysms with prolapse are frequently amenable to surgical repair, however, the longer left untreated, with more progressive cusp prolapse and more severe aortic regurgitation, the more likely they are to require aortic valve replacement.19 Early intervention will also prevent rupture, a generally highly symptomatic acute condition that may be the heralding feature of a long undetected SoVA. Once ruptured, mean survival may range from weeks to 1–2 years if left untreated.13,18 Supracristal VSD Presenting with Ruptured Sinus of Valsalva Aneurysm: Observational studies suggest that SoVA may coexist in up to 10% of SCVSDs, with increasing incidence with age. The presence of SoVA with SCVSD is rare before age 10, with rupture occurring most frequently in the third decade. Of patients diagnosed with SCVSD after the age of 20, 61% had coexistent SoVA, the majority of which (91%) had ruptured.1 SoVA initially develops as prolapse of the Sinus of Valsalva into the SCVSD, with later aneuyrsmal deformity and adhesion. Herniation of the right aortic sinus through the defect occurs in diastole due to expansion of the sinus from high central aortic pressure, in early systole due to left to right shunting producing a Venturi effect, and in late systole due to direct pressure from the left ventricle.20 SCVSD associated with SoVA is often less than 1 cm in diameter, with a scimitar shape or bow, suggesting adhesion of the Sinus of Valsalva to the VSD margin. Furthermore, smaller defects with higher interventricular gradients may be
Supracristal VSD and Sinus of Valsalva Aneurysm
more likely to contribute to valvular prolapse due to the Venturi effect. Echocardiography is reported to have a sensitivity, specificity, and diagnostic accuracy of 89.2%, 99.9%, and 99.0% for identification of cardiovascular lesions coexistent with SoVA.14 Although coexistent VSDs are rarely missed, they may be misclassified by echocardiography in about 9% of patients, likely due to supracristal VSDs being mistaken for infracristal VSDs due to herniated cusp tissue. Recognition of even the smallest SCVSD associated with SoVA is critical for surgical planning, as surgical reinforcement of the defect can preserve aortic and pulmonic valve function. The diagnosis of rupture of a SoVA may be more difficult in the presence of a VSD, particularly in the presence of significant aortic regurgitation that adds a diastolic Doppler flow component to that of the systolic VSD flow, appearing as continuous or biphasic flow in summation. Additionally, a high velocity VSD jet may obscure or redirect the flow of smaller SoVAs, resulting in misdiagnosis.14 In general, the continuity of the SoVA wall should be scanned with close attention, in multiple planes, with particular care to identify isolated jets on Doppler with the distinct characteristics of VSD and/or ruptured sinus of Valsalva flow. 3DTEE may be extremely useful in such cases, as en face cropping can be done separately for each defect in different anatomic planes (see movie clip S5) and 3D color Doppler can further delineate differential flow in the VSD and the ruptured SoVA.10,21 The presence of biventricular enlargement in the setting of ruptured SoVA into a right-sided
chamber with minimal valvular aortic regurgitation, as initially seen in our patient by TTE, is highly suggestive of coexistent ventricular septal defect. Left ventricular enlargement due to systolic VSD flow is a chronic progressive entity beginning in childhood and may be the sole hemodynamic footprint of a previously nonrestrictive SCVSD that might be unapparent at the time of SoVA diagnosis. On the other hand, significant pulmonary hypertension and right ventricular enlargement related to ruptured SoVA are not consistent findings in the literature.12,22,23 When present, right ventricular enlargement most likely represents an acute finding due to excessive diastolic flow from the aorta into the right-sided chambers, and may be associated with echocardiographic markers of right ventricular volume overload, such as a “D” shaped septum in diastole, which was seen in our patient, as well. The higher prevalence of sinus of Valsalva aneurysms reported in Eastern Asian populations is associated with more frequent right coronary sinus origin, more frequent rupture into the right ventricle, and more frequent coexistence of a SCVSD.14 The vast majority of patients with SoVA coexistent with SCVSD present with rupture,1 furthermore, of patients presenting with ruptured SoVA in the literature, more than half present with a VSD (53%), with most of these (82%) reported to be SCVSD (see Table I). An analysis of aggregate data from large studies including patients presenting with SoVA regardless of rupture is presented in Table II. The data analysis demonstrates a significant correlation between SoVA rupture and younger age at presentation,
TABLE II Sinus of Valsalva Aneurysms (Including Patients Presenting with and without Rupture) Citation (year) 39
Meyer et al. Choudhary et al.22 Takach et al.40 Vural et al.41 Li et al.42 Moustafa et al.3 Yan et al.43 Guo et al.44 Liu et al.37 Cheng et al.14 Total
Number of patients 45 104 129 53 216 86 100 257 255 212 1457
†
Age (years) 35.3 27.5 39.1 24 29.4 53 31 32 32.2 33
Rupture†‡§ (%) 51 88 50 64 87 34 94 86 83 72 76
VSDঠ(%) 11 44 12 34 66 31 42 56 58 53 48
RCS§¶ (%) 62 77 60 66 79 70 71 82 83 78 76
RV* (%) 70 66 66 59 80 62 62 63 63 68 67
RA* (%) 17 27 31 38 19 38 36 37 35 28 31
>1 + AI (%) 60 43 9 9 28 37 22 43 36 28 32
% is percent of patients unless otherwise noted. AI = aortic insufficiency; RA = right atrium; RCS = right coronary sinus; RV = right ventricle; VSD = ventricular septal defect. *Denotes percent of patients with rupture. † Correlation for age and rupture (Pearson r = 0.72, P = 0.02). ‡ Correlation for rupture and presence of VSD (Pearson r = 0.734, P = 0.016). § Correlation for rupture and RCC location of aneurysm (Pearson r = 0.69, P = 0.027). ¶ Correlation for VSD and RCC location of aneurysm (Pearson r = 0.94, P < 0.0001).
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right coronary cusp aneurysm location, and the presence of VSD. There was also a significant correlation between VSD presence and right coronary sinus aneurysm location. As previously stated, aortic valve deformity at a younger age and right coronary sinus aneurysm location are both associated with SCVSD. Although patient ethnicity was not routinely reported in the studies included in our analysis, we surmise that the greater prevalence of right coronary cusp involvement and rupture reported in Eastern Asian populations is likely related to a higher prevalence of coexistent SCVSD in this population. Surgical Correction: Anatomic correction of SCVSD with coexistent SoVA involves plication of the sinus, with closure of the VSD at the ventricular crest, elevation of the cusp, and preservation or restoration of competence of the aortic valve.20 A VSD patch repair may be necessary in the absence of an adequate conal muscular rim. VSD repair prevents further sinus herniation, even in the setting of residual shunting, suggesting adequate support is more important than complete closure of the SCVSD for preventing further aortic valve distortion.2 Significant aortic cusp prolapse may require additional aortic intervention in the form of valvuloplasty in the case of pliable cusps or valve replacement in the case of stiff and retracted cusps.6 Structural derangement of the right aortic sinus may require extensive excision of aortic sinus tissue, and significant aortic root deformity or enlargement may necessitate partial or complete root replacement,24 as was the case in our patient. Contraindications to surgical repair of SCVSD (with or without SoVA) include severe right ventricular dysfunction and/or Eisenmenger’s physiology. Conclusions: SCVSD likely accounts for a significant proportion of SoVA, which are particularly prone to rupture. The combination of SCVSD and SoVA is not uncommon in Asian populations, likely due to a much higher prevalence of SCVSD in Eastern Asians than in Western populations. Given the continued diversification of the American population, cardiovascular specialists and echocardiographers should be aware of this association regardless of practice location. The combination of 2D and 3D echocardiography can establish the correct diagnosis and facilitate surgical planning prior to repair. References 1. Momma K, Toyama K, Takao A, et al: Natural history of subarterial infundibular ventricular septal defect. Am Heart J 1984;108:1312–1317.
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Supporting Information Additional Supporting Information may be found in the online version of this article: Movie clip S1. Aortic root evaluation by TTE. Note systolic collapse and diastolic expansion of SoVA. Color Doppler demonstrates left to right flow in systole and diastole. (Chamber labels same as Fig. 1). Movie clip S2. Supracristal VSD and ruptured right sinus of Valsalva aneurysm on 2DTEE. Demonstrates two distinct lesions and respective shunts of the SCVSD and ruptured SoVA. (Chamber labels same as Fig. 2). Movie clip S3. Supracristal VSD on 3DTEE reconstructed surgical view. White arrow demonstrates SCVSD. (Chamber labels same as Fig. 3A and C) Movie clip S4. Ruptured right sinus of Valsalva aneurysm on 3DTEE reconstructed surgical view. White arrow demonstrates ruptured SoVA. (Chamber labels same as Fig. 3). Movie clip S5. Ruptured right sinus of Valsalva aneurysm on 3DTEE orthogonal view. White arrow demonstrates ruptured SoVA protruding into the right ventricular outflow tract. PV = pulmonic valve; RV = right ventricle; TV = tricuspid valve.
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