Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic AneurysmReport as inadecuate




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Case Reports in GeneticsVolume 2014 2014, Article ID 591516, 4 pages

Case Report

Nemours Cardiac Center, Nemours-Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA

Department of Pathology, Nemours-Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA

Anatomy and Cell Biology, Thomas Jefferson University Hospital, Philadelphia, PA 19107, USA

Connective Tissue Gene Tests, Allentown, PA 18106, USA

Received 14 November 2013; Accepted 6 January 2014; Published 3 March 2014

Academic Editors: C.-W. Cheng, M. Fenger, C.-S. Huang, P. Morrison, and G. Vogt

Copyright © 2014 Kristi K. Fitzgerald et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Aneurysms-osteoarthritis syndrome AOS caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection TAAD. We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome HLHS who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending aorta, and proximal aortic arch. Family screening for the mutation revealed that his father, who has vascular and skeletal features of AOS, and his brother, who is asymptomatic, also have the pathogenic mutation. This is the first case report of a SMAD3 mutation in a patient with hypoplastic left heart syndrome. This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.





Author: Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, and Christian Pizarro

Source: https://www.hindawi.com/



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