Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
Joint Authors
Bhat, Abdul Majeed
Hyland, James
Pizarro, Christian
Conard, Katrina
Fitzgerald, Kristi K.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-03
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Fitzgerald, Kristi K.& Bhat, Abdul Majeed& Conard, Katrina& Hyland, James& Pizarro, Christian. 2014. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-483338
Modern Language Association (MLA)
Fitzgerald, Kristi K.…[et al.]. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. Case Reports in Genetics No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-483338
American Medical Association (AMA)
Fitzgerald, Kristi K.& Bhat, Abdul Majeed& Conard, Katrina& Hyland, James& Pizarro, Christian. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-483338
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-483338