2362
CASE REPORT CHANG ET AL AORTIC EMERGENCIES IN YOUNG CHILDREN WITH LDS
Ann Thorac Surg 2015;100:2362–4
4. Manning PB, Rutter MJ, Lisec A, Gupta R, Marino BS. One slide fits all: the versatility of slide tracheoplasty with cardiopulmonary bypass support for airway reconstruction in children. J Thorac Cardiovasc Surg 2011;141:155–61.
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome Qian Chang, MD,* Yan Li, MD,* Xiangyang Qian, MD, PhD, Xiaogang Sun, MD, PhD, Haitao Zhang, MD, PhD, Lei Chen, MD, Fuxia Yan, MD, and Jinping Liu, MD Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease. Aortic emergency in young children with Loeys-Dietz syndrome is an extremely rare occurrence. In this communication we report on 2 young children whose diagnoses were missed and consequently underwent urgent aortic repair due to aortic emergencies. For personalized management of aortic disease in Loeys-Dietz syndrome patients, when and how do we intervene? (Ann Thorac Surg 2015;100:2362–4) Ó 2015 by The Society of Thoracic Surgeons
Fig 1. (A) A large intimal fissure (red arrow). (B) Sagittal reconstruction shows dilation of Valsalva sinuses with a dissection membrane. (C) Marked tortuosity of the entire aorta and its major branches.
FEATURE ARTICLES
L
oeys-Dietz syndrome (LDS) is a recently recognized genetic disorder marked by craniofacial and musculoskeletal abnormalities and aggressive aortic pathology [1–3]. Indications for surgical replacement of the dilated aorta have been published, and in light of the aggressive nature of the disorder, earlier surgical intervention is indicated. However, there are little data on aortic emergencies in LDS patients and on the need for urgent aortic surgery in young children. Thus, a better understanding of LDS and its clinical implications is important. In this report, 2 LDS patients are described who exhibited aortic emergencies and underwent urgent aortic repair at a very young age.
Case Reports Patient 1 A 7-year-old boy visited the emergency room of Fuwai Hospital with a complaint of sudden-onset chest pain and dyspnea. At the age of 6, this boy was diagnosed as aortic root aneurysm (aortic sinus diameter 44 mm) and Marfan Accepted for publication Feb 26, 2015. *Drs Qian Chang and Yan Li contributed equally to this manuscript. Address correspondence to Dr Li, Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Rd, Beijing, China 100037; e-mail: [email protected].
Ó 2015 by The Society of Thoracic Surgeons Published by Elsevier
Fig 2. (A) A large aortic root aneurysm (white arrow). (B) Modified Bentall procedure was done during cooling (blue arrow); the distal thoracic descending aorta was transected and attached to the distal end of the 4-branch prosthetic graft (yellow arrow). 0003-4975/$36.00 http://dx.doi.org/10.1016/j.athoracsur.2015.02.125
Ann Thorac Surg 2015;100:2362–4
syndrome (MFS). At the age of 7 years he showed the following: height 140 cm; arm span 136 cm; and upper to lower segment ratio 0.88. A thorough physical examination demonstrated dolicocephaly, hypertelorism, hypoplastic ala nasi, high-arched palate, microretrognathia, joint hypermobility (Beighton score 7/9), and arachnodactyly, which suggested LDS rather than MFS. Cardiovascular examination was consistent with severe aortic insufficiency. Echocardiography demonstrated a large aortic root aneurysm with a dissection membrane, aortic root diameter 70 mm. and ascending aorta diameter 35 mm, and severe aortic regurgitation. Therefore, a computed tomographic (CT) imaging was made rapidly, which clarified acute type A aortic dissection, aortic root diameter 75 mm, an absolute aortic sinus diameter 35 mm, aortic arch diameter 33 mm, and a marked tortuosity of the entire aorta and its major branches (Figs 1A, 1B, 1C). An urgent operation was performed by a median sternotomy and total cardiopulmonary bypass (CPB). Cannulation of the right iliac artery was used for CPB. The arterial line was bifurcated for the right iliac artery and for antegrade perfusion through 1 limb of a 4-branch prosthetic graft. Aortic root replacement was done using a modified Bentall technique during cooling. A circulatory arrest was instituted when the nasopharyngeal temperature reached 18 C. A 4-branch prosthetic graft was used in total arch replacement. The supraaortic arteries were transected circumferentially 0.5 cm distal to their origins. After the distal aorta was transected, it was attached to the distal end of the 4-branch prosthetic graft using the
CASE REPORT CHANG ET AL AORTIC EMERGENCIES IN YOUNG CHILDREN WITH LDS
2363
“open” aortic procedure (Figs 2A, 2B). The postoperative course was uneventful, and the patient was discharged 10 days postoperatively without any complications. Sequencing analysis of genomic DNA disclosed mutations in the transforming growth factor betareceptor type I gene, which has been found to cause LDS. The histologic findings in this patient were as follows: fragmentation of elastic fibers; accumulation of intercellular matter in media; and defects in membrana elastica interna.
Patient 2 A 5-year-old boy was referred to the emergency room of Fuwai Hospital for back pain, hoarseness, and dyspnea for three weeks. At the age of 4 years he was diagnosed as thoracic aortic aneurysm and MFS. At the age of 5 years he showed: height 122 cm, arm span 118 cm, upper: lower segment ratio 0.85. A physical examination revealed bifid uvula, muscular hypotrophy, hypoplastic ala nasi, microretrognathia, high-arched palate, and joint hypermobility (Beighton score 8/9), which suggested LDS. The systolic murmur was loud and harsh, most intense at the left sternal border, and transmitted widely to both lung fields. Echocardiography demonstrated a large pseudoaneurysm (73 54 mm) at the aortic isthmus, severe depression of the pulmonary trunk and left pulmonary artery, and moderate tricuspid regurgitation. Therefore, a CT imaging was made rapidly, which clarified disruption of the aortic isthmus vessel wall, formation of a large pseudoaneurysm (diameter 77 mm), and depression of
FEATURE ARTICLES
Fig 3. (A) Disruption of aortic isthmus vessel wall. (B) Huge pseudoaneurysm of the thoracic descending aorta and depression of the pulmonary trunk and left pulmonary artery (blue arrow). (C) The huge pseudoaneurysm of the thoracic descending aorta (yellow arrow) and the normal distal part (white arrow). (D) Thoracic descending aorta (white arrow) and the huge sac of the pseudoaneurysm (blue arrow).
2364
CASE REPORT LI ET AL NEW HYBRID APPROACH FOR AORTIC COARCTATION
the pulmonary trunk and left pulmonary artery (Figs 3A, 3B, 3C, 3D). A marked tortuosity of the entire aorta and its major branches were also noted in the CT scan. An urgent operation was performed. The left thoracic cavity was entered through the fourth intercostal space. The left femoral artery and vein were cannulated for cardiopulmonary bypass. As severe pleural adhesion caused by a large pseudoaneurysm made it difficult to find a safe site for proximal cross-clamping, the proximal anastomosis was made under total circulatory arrest in deep hypothermia. The distal anastomosis was made during the rewarming period after cardiopulmonary bypass was reinstituted. The patient recovered rapidly and was discharged on the ninth postoperative day. The LDS was finally diagnosed by postoperative genetic screening result of mutations in the transforming growth factor beta-receptor type II gene. Histopathologic examination of the aortic wall showed diffuse degeneration and elastin fragmentation in the media.
FEATURE ARTICLES
Comment Aortic emergencies occur typically in older hypertensive patients with a peak incidence in the sixth decade, but rarely occur in young children in the first decade. Although LDS has similarities with MFS, they have distinctive phenotypic and genetic features. Williams and colleagues [3] reported the following distinctive features of LDS: fatal aortic events at a very young age; fatal aortic dissection and rupture in the aortic root with diameters smaller than 45 mm; aneurysmal changes in the entire aortic and major arterial tree; and high rates of repeat surgical interventions. For these reasons, earlier surgical intervention should be considered for young LDS patients with smaller aortic diameter as opposed to the general population and even MFS patients. Our most important finding is the evidence for the aggressive nature of the aortic pathology in LDS. These findings indicate that not only should surgical intervention be considered earlier than routinely considered for patients with MFS, but these patients also require strict surveillance of the entire arterial tree to identify problems that are generally amenable to surgical intervention. The LDS patients appear to tolerate surgical intervention well. Unlike patients with Ehlers-Danlos syndrome type IV who have a high incidence of intraoperative and early postoperative vascular catastrophe, LDS patients do not have friable vascular tissue [4]. Some investigators recommend criteria include an absolute aortic sinus diameter of 40 mm or greater for adult LDS patients; however, should we favor a threshold of an aortic sinus diameter indexed to body surface area of 3 or greater (z score) for children with LDS? Should we also consider surgical intervention in LDS children who show progressive aortic dilatation and who have a sufficient aortic size to accept a graft that will accommodate growth? In summary, we report 2 children with LDS who were only correctly diagnosed after aortic emergencies. We conclude that physicians and surgeons dealing with Ó 2015 by The Society of Thoracic Surgeons Published by Elsevier
Ann Thorac Surg 2015;100:2364–7
genetically triggered aortic disease should be aware of this new and rare disorder to ensure early proper diagnoses resulting in a timely and efficient management strategy.
References 1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788–98. 2. Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J 2008;16:299–304. 3. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83: S757–63. 4. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:573–80.
One-Stage Hybrid Procedure to Treat Aortic Coarctation Complicated by Intracardiac Anomalies in Two Adults Qiao Li, PhD,* Ke Lin, PhD,* Chang-ping Gan, PhD,* and Yuan Feng, MD Department of Cardiology, and Department of Cardiovascular Surgery, West China Hospital, Sichuan University, Chengdu, China
The traditional approach for treating aortic coarctation with intracardiac anomalies in adults is surgery using 2 surgical incisions or a two-stage hybrid method with a peripheral artery pathway that requires intervention. This paper reports a one-stage hybrid procedure to treat this type of congenital heart disease using 1 surgical incision combined with an ascending aorta puncture intervention approach as transaortic intervention approach. Here, we present 2 aortic coarctation cases; 1 complicated by ventricular septal defect and patent ductus arteriosus, and another complicated by an incomplete atrioventricular septal defect and mitral valve cleft. Both were successfully treated by our one-stage hybrid approach. (Ann Thorac Surg 2015;100:2364–7) Ó 2015 by The Society of Thoracic Surgeons
A
ortic coarctation is a common congenital disease that may be undiagnosed until adulthood in developing countries, when most patients are discovered during Accepted for publication Feb 27, 2015. *Drs Li, Lin and Gan contributed to the work equally and should be regarded as co-first authors. Address correspondence to Dr Feng, West China Hospital of Sichuan University, 610041 Chengdu, Sichuan Province, PR China; e-mail: [email protected].
0003-4975/$36.00 http://dx.doi.org/10.1016/j.athoracsur.2015.02.130
CASE REPORT CHANG ET AL AORTIC EMERGENCIES IN YOUNG CHILDREN WITH LDS
Ann Thorac Surg 2015;100:2362–4
4. Manning PB, Rutter MJ, Lisec A, Gupta R, Marino BS. One slide fits all: the versatility of slide tracheoplasty with cardiopulmonary bypass support for airway reconstruction in children. J Thorac Cardiovasc Surg 2011;141:155–61.
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome Qian Chang, MD,* Yan Li, MD,* Xiangyang Qian, MD, PhD, Xiaogang Sun, MD, PhD, Haitao Zhang, MD, PhD, Lei Chen, MD, Fuxia Yan, MD, and Jinping Liu, MD Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease. Aortic emergency in young children with Loeys-Dietz syndrome is an extremely rare occurrence. In this communication we report on 2 young children whose diagnoses were missed and consequently underwent urgent aortic repair due to aortic emergencies. For personalized management of aortic disease in Loeys-Dietz syndrome patients, when and how do we intervene? (Ann Thorac Surg 2015;100:2362–4) Ó 2015 by The Society of Thoracic Surgeons
Fig 1. (A) A large intimal fissure (red arrow). (B) Sagittal reconstruction shows dilation of Valsalva sinuses with a dissection membrane. (C) Marked tortuosity of the entire aorta and its major branches.
FEATURE ARTICLES
L
oeys-Dietz syndrome (LDS) is a recently recognized genetic disorder marked by craniofacial and musculoskeletal abnormalities and aggressive aortic pathology [1–3]. Indications for surgical replacement of the dilated aorta have been published, and in light of the aggressive nature of the disorder, earlier surgical intervention is indicated. However, there are little data on aortic emergencies in LDS patients and on the need for urgent aortic surgery in young children. Thus, a better understanding of LDS and its clinical implications is important. In this report, 2 LDS patients are described who exhibited aortic emergencies and underwent urgent aortic repair at a very young age.
Case Reports Patient 1 A 7-year-old boy visited the emergency room of Fuwai Hospital with a complaint of sudden-onset chest pain and dyspnea. At the age of 6, this boy was diagnosed as aortic root aneurysm (aortic sinus diameter 44 mm) and Marfan Accepted for publication Feb 26, 2015. *Drs Qian Chang and Yan Li contributed equally to this manuscript. Address correspondence to Dr Li, Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Rd, Beijing, China 100037; e-mail: [email protected].
Ó 2015 by The Society of Thoracic Surgeons Published by Elsevier
Fig 2. (A) A large aortic root aneurysm (white arrow). (B) Modified Bentall procedure was done during cooling (blue arrow); the distal thoracic descending aorta was transected and attached to the distal end of the 4-branch prosthetic graft (yellow arrow). 0003-4975/$36.00 http://dx.doi.org/10.1016/j.athoracsur.2015.02.125
Ann Thorac Surg 2015;100:2362–4
syndrome (MFS). At the age of 7 years he showed the following: height 140 cm; arm span 136 cm; and upper to lower segment ratio 0.88. A thorough physical examination demonstrated dolicocephaly, hypertelorism, hypoplastic ala nasi, high-arched palate, microretrognathia, joint hypermobility (Beighton score 7/9), and arachnodactyly, which suggested LDS rather than MFS. Cardiovascular examination was consistent with severe aortic insufficiency. Echocardiography demonstrated a large aortic root aneurysm with a dissection membrane, aortic root diameter 70 mm. and ascending aorta diameter 35 mm, and severe aortic regurgitation. Therefore, a computed tomographic (CT) imaging was made rapidly, which clarified acute type A aortic dissection, aortic root diameter 75 mm, an absolute aortic sinus diameter 35 mm, aortic arch diameter 33 mm, and a marked tortuosity of the entire aorta and its major branches (Figs 1A, 1B, 1C). An urgent operation was performed by a median sternotomy and total cardiopulmonary bypass (CPB). Cannulation of the right iliac artery was used for CPB. The arterial line was bifurcated for the right iliac artery and for antegrade perfusion through 1 limb of a 4-branch prosthetic graft. Aortic root replacement was done using a modified Bentall technique during cooling. A circulatory arrest was instituted when the nasopharyngeal temperature reached 18 C. A 4-branch prosthetic graft was used in total arch replacement. The supraaortic arteries were transected circumferentially 0.5 cm distal to their origins. After the distal aorta was transected, it was attached to the distal end of the 4-branch prosthetic graft using the
CASE REPORT CHANG ET AL AORTIC EMERGENCIES IN YOUNG CHILDREN WITH LDS
2363
“open” aortic procedure (Figs 2A, 2B). The postoperative course was uneventful, and the patient was discharged 10 days postoperatively without any complications. Sequencing analysis of genomic DNA disclosed mutations in the transforming growth factor betareceptor type I gene, which has been found to cause LDS. The histologic findings in this patient were as follows: fragmentation of elastic fibers; accumulation of intercellular matter in media; and defects in membrana elastica interna.
Patient 2 A 5-year-old boy was referred to the emergency room of Fuwai Hospital for back pain, hoarseness, and dyspnea for three weeks. At the age of 4 years he was diagnosed as thoracic aortic aneurysm and MFS. At the age of 5 years he showed: height 122 cm, arm span 118 cm, upper: lower segment ratio 0.85. A physical examination revealed bifid uvula, muscular hypotrophy, hypoplastic ala nasi, microretrognathia, high-arched palate, and joint hypermobility (Beighton score 8/9), which suggested LDS. The systolic murmur was loud and harsh, most intense at the left sternal border, and transmitted widely to both lung fields. Echocardiography demonstrated a large pseudoaneurysm (73 54 mm) at the aortic isthmus, severe depression of the pulmonary trunk and left pulmonary artery, and moderate tricuspid regurgitation. Therefore, a CT imaging was made rapidly, which clarified disruption of the aortic isthmus vessel wall, formation of a large pseudoaneurysm (diameter 77 mm), and depression of
FEATURE ARTICLES
Fig 3. (A) Disruption of aortic isthmus vessel wall. (B) Huge pseudoaneurysm of the thoracic descending aorta and depression of the pulmonary trunk and left pulmonary artery (blue arrow). (C) The huge pseudoaneurysm of the thoracic descending aorta (yellow arrow) and the normal distal part (white arrow). (D) Thoracic descending aorta (white arrow) and the huge sac of the pseudoaneurysm (blue arrow).
2364
CASE REPORT LI ET AL NEW HYBRID APPROACH FOR AORTIC COARCTATION
the pulmonary trunk and left pulmonary artery (Figs 3A, 3B, 3C, 3D). A marked tortuosity of the entire aorta and its major branches were also noted in the CT scan. An urgent operation was performed. The left thoracic cavity was entered through the fourth intercostal space. The left femoral artery and vein were cannulated for cardiopulmonary bypass. As severe pleural adhesion caused by a large pseudoaneurysm made it difficult to find a safe site for proximal cross-clamping, the proximal anastomosis was made under total circulatory arrest in deep hypothermia. The distal anastomosis was made during the rewarming period after cardiopulmonary bypass was reinstituted. The patient recovered rapidly and was discharged on the ninth postoperative day. The LDS was finally diagnosed by postoperative genetic screening result of mutations in the transforming growth factor beta-receptor type II gene. Histopathologic examination of the aortic wall showed diffuse degeneration and elastin fragmentation in the media.
FEATURE ARTICLES
Comment Aortic emergencies occur typically in older hypertensive patients with a peak incidence in the sixth decade, but rarely occur in young children in the first decade. Although LDS has similarities with MFS, they have distinctive phenotypic and genetic features. Williams and colleagues [3] reported the following distinctive features of LDS: fatal aortic events at a very young age; fatal aortic dissection and rupture in the aortic root with diameters smaller than 45 mm; aneurysmal changes in the entire aortic and major arterial tree; and high rates of repeat surgical interventions. For these reasons, earlier surgical intervention should be considered for young LDS patients with smaller aortic diameter as opposed to the general population and even MFS patients. Our most important finding is the evidence for the aggressive nature of the aortic pathology in LDS. These findings indicate that not only should surgical intervention be considered earlier than routinely considered for patients with MFS, but these patients also require strict surveillance of the entire arterial tree to identify problems that are generally amenable to surgical intervention. The LDS patients appear to tolerate surgical intervention well. Unlike patients with Ehlers-Danlos syndrome type IV who have a high incidence of intraoperative and early postoperative vascular catastrophe, LDS patients do not have friable vascular tissue [4]. Some investigators recommend criteria include an absolute aortic sinus diameter of 40 mm or greater for adult LDS patients; however, should we favor a threshold of an aortic sinus diameter indexed to body surface area of 3 or greater (z score) for children with LDS? Should we also consider surgical intervention in LDS children who show progressive aortic dilatation and who have a sufficient aortic size to accept a graft that will accommodate growth? In summary, we report 2 children with LDS who were only correctly diagnosed after aortic emergencies. We conclude that physicians and surgeons dealing with Ó 2015 by The Society of Thoracic Surgeons Published by Elsevier
Ann Thorac Surg 2015;100:2364–7
genetically triggered aortic disease should be aware of this new and rare disorder to ensure early proper diagnoses resulting in a timely and efficient management strategy.
References 1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788–98. 2. Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J 2008;16:299–304. 3. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83: S757–63. 4. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:573–80.
One-Stage Hybrid Procedure to Treat Aortic Coarctation Complicated by Intracardiac Anomalies in Two Adults Qiao Li, PhD,* Ke Lin, PhD,* Chang-ping Gan, PhD,* and Yuan Feng, MD Department of Cardiology, and Department of Cardiovascular Surgery, West China Hospital, Sichuan University, Chengdu, China
The traditional approach for treating aortic coarctation with intracardiac anomalies in adults is surgery using 2 surgical incisions or a two-stage hybrid method with a peripheral artery pathway that requires intervention. This paper reports a one-stage hybrid procedure to treat this type of congenital heart disease using 1 surgical incision combined with an ascending aorta puncture intervention approach as transaortic intervention approach. Here, we present 2 aortic coarctation cases; 1 complicated by ventricular septal defect and patent ductus arteriosus, and another complicated by an incomplete atrioventricular septal defect and mitral valve cleft. Both were successfully treated by our one-stage hybrid approach. (Ann Thorac Surg 2015;100:2364–7) Ó 2015 by The Society of Thoracic Surgeons
A
ortic coarctation is a common congenital disease that may be undiagnosed until adulthood in developing countries, when most patients are discovered during Accepted for publication Feb 27, 2015. *Drs Li, Lin and Gan contributed to the work equally and should be regarded as co-first authors. Address correspondence to Dr Feng, West China Hospital of Sichuan University, 610041 Chengdu, Sichuan Province, PR China; e-mail: [email protected].
0003-4975/$36.00 http://dx.doi.org/10.1016/j.athoracsur.2015.02.130
