CASE REPORT Familial Pseudocoarctation of the Aorta Michael K. Atalay • Lazaros K. Kochilas Received: 15 January 2011 / Accepted: 7 February 2011 / Published online: 25 February 2011 Ó Springer Science+Business Media, LLC 2011 Abstract Pseudocoarctation of the aorta (PCOA) is an unusual congenital malformation of the aortic arch char- acterized by an acute anterior angulation of the aortic arch at the level of the ligamentum arteriosum with little or no obstruction. This report describes the occurrence of PCOA and other aortic arch abnormalities including true coarc- tation, right aortic arch, and aneurysms of the proximal and distal aortic arch in three generations of a single family. To our knowledge, a familial form of PCOA has not been described. Keywords Pseudocoarctation Á Coarctation Á Aortic aneurysm Á Aortopathy Á Familial condition Pseudocoarctation of the aorta (PCOA) is an unusual anomaly of the aortic arch characterized by an acute anterior angulation at the level of the ligamentum arterio- sum causing a kinking of the aortic lumen with little or no obstruction [2, 7, 9]. We present a family with three members in two generations who were shown to have PCOA, with one member also having true coarctation. All three members had one or more dilated or aneurysmal thoracic aorta segments. In addition, a fourth member of the family in a third generation was found to have a right aortic arch with an aberrant left subclavian artery arising from a diverticulum of Kommerell. No other congenital heart lesions were observed in any family member. Case reports The proband, now a 53-year-old white female, underwent cardiac catheterization at 12 years of age because chest radiograph showed a high left aortic arch and a tortuous descending aorta. She was otherwise asymptomatic from a cardiac perspective. Angiogram showed a tortuous, high (cervical) aortic arch with an inverted U-configuration and a diffusely dilated descending thoracic aorta. There was no pressure gradient between the ascending and descending aorta, and no aortic valve anomaly was noted. At 17 years of age, she had an ice-skating accident and sustained a ruptured spleen and a traumatic Stanford type B dissection. Emergency resection of her descending aorta from the isthmus to the diaphragmatic hiatus with Dacron graft replacement was performed. At 47 years of age, the patient underwent follow-up evaluation with magnetic resonance angiography (MRA), which demonstrated a kinked cervical aortic arch with dilation of the proximal descending aorta followed by a 9-cm interposition graft (Fig. 1). She remains asymptomatic from a cardiac perspective. The proband’s brother (1 year younger) underwent cardiac catheterization at 10 years of age because of sus- pected coarctation of the aorta. The angiography showed acute anterior angulation at the isthmus consistent with PCOA followed by long-segment coarctation of the aorta. Coarctation resection with Dacron interposition graft was performed. Postoperative serial chest X-rays suggested progressive enlargement of his descending thoracic aorta for which repeat cardiac catheterization was performed when he was 21 years of age. The study showed a stable M. K. Atalay Department of Diagnostic Imaging, Rhode Island Hospital, Warren Alpert School of Medicine of Brown University, Providence, RI 02903, USA L. K. Kochilas (&) Division of Pediatric Cardiology, University of Minnesota Amplatz Children’s Hospital, Minneapolis, MN 55455, USA e-mail: kochilas@umn.edu 123 Pediatr Cardiol (2011) 32:692–695 DOI 10.1007/s00246-011-9933-8