Case Report 294

Aortic Regurgitation and Aneurysm of Sinus ofValsalva Asso ciated with Osteogenesis Imperfecta H. Ohtek t', S. Ohtsubo' , 1. Sakurai ' , N. Koga I, K. Kohchi ' , and T. ltolr' Department of Cardiology. Koga Hospita l Dep a rt ment of Thor acic and Cardiovascu lar Su rgery . Saga Medica l School. Saga. Ja pa n

Summary A case of osteogenesis imp erfecta with aortic regur gitation is described. The patient had a dilated aorti c valve ring an d an aneu rysm of the Sinus of Valsalva , The pat ien t manifested severe hemodynam ic abnormalities an d underw en t ao rtic root reconstruc tion using a valved condu it. The ope ra tive pr oblems an d the pat hologica l findings are discussed. Aorteninsuffizie nz und Sin us Valsalva Aneurysma in Verbindung mi t e iner Osteogenesis Imp erfecta Es wird tiber einen 23jiihrigen Mann mit eine r bekannt en Osteogene sis imperfecta berichtet, der mit den Zeiche n einer Kardiomegalie aufgenomme n wurde. Im weite re n Verla uf wurde eine Aort eninsuffizienz im a ngiografischen Sta dium IV.

Introd uction

Osteogen esis imperfecta is one of the groups of her editary, genera lized disorders of connective tissue. Though the pr ima ry ma nifestations of osteogenes is imperfecta ar e those related to multiple fractures , the disease is known to involve the cardiovascular system as well (1), We report a case of osteogenesis imperfecta involving aortic regur gitation and an aneurysm of Sinu s of Valsalva that underwent aortic root reconstruction.

eine milde Mitra linsuffizienz und ein Aneu rysma des Sinus Val-

salva dia gnosti ziert. Bei der Opera tion konnte ohne weitere Komplikationen die Aortenwurze l durch ein 25 Bjork-Shiley Klappe nkonduit ersetz t werden. Wegen anhaltender Blut unge n mu Bte am 1. postoper ativen Tag eine He- Thorakotom ie ve rge nommen werde n. bel der jed och kein e ma nifeste Blutungsquelle gefunde n werde n konnte. Aufgru nd weiterbestehe nder Blutungstend en zen wur den in der Folgezeit 7,2 L Blut trans fundiert , am 8. postoperativen Tag verst arb der Patient unter dem BUd eines akuten Leber- und Nierenve rs agens . Oer Verla ufwi rd an ha nd der Literat ur diskutiert.

Keywords Osteogenesis impe rfecta - Annulo-aortic ectasia - Aortic root reconstruction

On February 12, 1990, aortic root reconstruction was perform ed using a 25 Bjork-Shiley valved condu it. At operation. t he surgeon noted fragile myxomatous valve leaflets . The ope ratio n wa s comp leted without complication, although a slight tende ncy to bleeding was obse rved. Grad ually bleeding increas ed in volume and blood transfusion was administered. The postoper ative hemodynamics were sta ble, though moder ate bleed ing continued. Reinterven tion was necessa ry on the 1.1 postope rative da y, but no

Case Rep or t A 23-yea r-old man (height: 150 cm, weight: 46kg) was admitted to our hospital in Ja nua ry 1990. The dia gnosis of osteogen esis imper fecta was based on a history of multiple bone fractures as a child an d the presence of blue sclera. His mother also ha d a history of multiple fractures . Since 1989, the patient compla ined of dyspnea on exer tion . This had bee n treated with digitalis, diur etics, an d ant icoagulants. He presented moderate kyphoscoliosis with hearing a nd visual disturban ces . Blood pressu re was 144/0 mmHg a nd the pulse rate was 102/min on a dm ission. A ches t ra diograph revealed mar ked cardiomegaly and a car diothora cic rat io of 67 %. Cardiac. cathete rization showed eleva tion s in the mea n pulmonary wedg e pr ess ur e (18 mmllg) . in the systolic a nd diastolic pulmo nary artery pressures (40/20 rnmll g). an d in the mean right atrial pre ssure (6 mmllg t. The left-ventricula r and ao rtic pressures were respectively 159/1 5 and 158/42mm Hg. Aortography revealed grade IV/IV aort ic regurgitation . minimal mitral regurgita tion , and a n a ne urysm of the Sinus of Valsalva

(Fig. tl.

Thorac. cardiovasc. Surgeon 39 (99 1) 294-295 © Georg Thieme Verlag Stuttgart · New York

Fig. 1 Preoperativeaortography Aortography revealedIV/IVaortic regurgitation,minimal mitralregurgitationand an aneurysm of thesinus of Valsalva

lteceived for Pub lica tion: January 23.1991

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Aortic Regurgit ation a nd A neurysm of Sin us oj Vals Q!I;QAssociated

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Thome. cardioIJQsc. Surgeon 39 (1991)

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Surgical corr ection of valve abnormalities has been infrequent. Thirt een of the 30 reported cases (3) und erwent valve surgery. This may reflect the relative infrequ ency of severe valvular involvement , but may be related in part of limited exercise tolerance or capability in a patient with

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aortic root recons truction is recommende d for such cases of annulo-aortic ectasia and/or dilation of Valsalva sinus and

ascending aorta. Cystic medial mucinous or myxoid degeneration of the aortic valve and the proximal ascendin g aorta has been noted in two patients who underwent aortic valve replacement (7). Abnormalities in tissue collagen may be res ponsible for such friability at surg ery. Addition ally, patients with osteogenesis have demon strated ill-defined bleeding tend encies , an d severe postoperative bleeding prob lems have occurred in patients reported previously 0 , 3, 8). Despite potent ial prob lems with tissue friability and healing, and a possible tend ency for increased bleeding, successful valve repair can be carried out if required by cardiac disability, as demon strated in our case. Referen ces Fig. 2 Microscopic exa mination of theaortic valve (a) and theaortic wall(b). a) aortic valve: a thickening of thefibrosa isseen b) aortic wall:a disruption of collagenousbundlesand asmalldeposition of mucopolysaccharidesare visible

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appa rent gross bleeding wa s fou nd . Mild to mo derate bleeding co ntinue d for 5 days and blood tran sfusion of7 200ml in total was neces sa ry. The patien t died of acu te hepatic failure 8 days after op eration . No autopsy was pe rform ed . The ac ute hepat ic failure may ha ve be en due to the massive blood transfus ion ca usi ng renal failu re . Micros copic examination of the valve an d the aortic wa ll disclosed a thi cken ing of the fibro sa with disru ption of the collage nous bund le s and a small de position ofm ucopo lysacchar ides (Fig. 2).

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Disc ussion

Both aortic and mitral regurgitation have been discovered angiographically in patients with osteogenesis imperfecta (2, 3, 5-8). However , aortic regur gitation app ears to occur mor e commonly than mitral regur gitation . Koentges et al. (3) collected from the literalure 30 cas es with the associa-

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Criscit iello. M. G.. 1. A. Ronan. E. M. M. Besterman. and W. S choenwetter: Cardiovascular abnormalities in osteogenesis impe rfecta. Circulation 31 (1965) 255-26 2 Heppne r. R. L.. H. I, Bantu. 1. HI: Bianchine . and 1. R. Warbass e: Aortic regurgitation and aneurysm of sinus of Valsalva ass ociated with osteogenesis imperfecta. Am. J. Cardiol. 31 (1973) 65 4-647 Koentqes , D.. F. V. Wer/. J. Stalpaert. P. Goddeeris. and H. Gees t: Aortic and mitral valve replacement in osteogenesis impe rfecta. Report ofa case . Acta Cardiologica 41 (1986) 147- 153 Siggers. D. C: Osteogenes is imperfecta with aortic valve replacement. Birth Defects 10 (1974) 495- 498 Stein . D.. and F. E. Kloster: Valvular heart disease in osteog enes is Imperfecta . Am. Heart J. 94 (1977 ) 637-64 1 Waters. D. D.. D. W. Clark. P. N. Sy mbas. and R. C. Schlant: Aortic and mitral valve replacement in a patient with osteogenesis imper-

fecta. Cbest 7t It 977) 363-364 Weisinge r. B.. E. Glassman. F. C. Spencer. and A. Berguer: Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. Br. HeartJ . 37 (197 5) 475-477 Wood. S. J.. J. Thomas. and M. V. Brainbridge: Mitral valve diseas e and open heart surgery in osteogenesis imperfecta tarda. Sr. Heart J. 35 (1973) t03- 106 Guenot. 0 .. M. Desnos. A. Haqeqe, P. Cristofini. T Lap erche, and C. Guerot : Aortic insufficiency with Valsalva's sinus aneurysm and Lobstein's disease (letter). Ann. Med. lnterne 140 (1989) 333 -334

tion of osteo genesi s imperfecta and significant aortic and/or

mitral vaive disease. Eighteen pr esented isolated aortic insufficiency an d 9 showed both mitra l and aortic insufficiency. Thr ee demonstrated only mitral insufficiency. An ane urysm of the sinu s of Valsalva has been described by Heppn er (2) in an oth er patient with aort ic regurgitation and by Gueno t (9).

Hitos hi Ohteki. M. D.

Department of Card iovascular Surgery Saga Prefectural Hospita l "Kohseika n" 1-12·9 Mizugae Saga City 840 Japan

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osteogenesis due to orthopedic disability from multiple fractures or avoidance of activity. It ha s been anticipated that patients with osteogenesis might present the same difficulties in securing sutures and subsequent healing that have been encountered in thos e with the Marfan syndrome, and surgical reports have described friability of tissue (3, 7, 8). The suture techniqu e used for fixation of the pro sthesis plays an important role in the prevention of dehiscence of the suture line. It is recommended that mattress sutures with small Dacron felts provides the best prosth etic valve sta bility. Until now, aorti c root reconstruction has been done in only one case of a Bentall operation reporte d by Guenot et al. (9) . We also agree that radi cal correction by

Aortic regurgitation and aneurysm of Sinus of Valsalva associated with osteogenesis imperfecta.

A case of osteogenesis imperfecta with aortic regurgitation is described. The patient had a dilated aortic valve ring and an aneurysm of the Sinus of ...
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