Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm.
Publication/Presentation Date
1-1-2014
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.
Volume
2014
First Page
591516
Last Page
591516
ISSN
2090-6544
Published In/Presented At
Fitzgerald, K. K., Bhat, A. M., Conard, K., Hyland, J., & Pizarro, C. (2014). Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. Case reports in genetics, 2014, 591516. https://doi.org/10.1155/2014/591516
Disciplines
Medicine and Health Sciences
PubMedID
24711937
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article