Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
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 a...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2014-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/591516 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832562041295994880 |
|---|---|
| author | Kristi K. Fitzgerald Abdul Majeed Bhat Katrina Conard James Hyland Christian Pizarro |
| author_facet | Kristi K. Fitzgerald Abdul Majeed Bhat Katrina Conard James Hyland Christian Pizarro |
| author_sort | Kristi K. Fitzgerald |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3ef7ba159cfd4251ad6c830fe6aa8292 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-3ef7ba159cfd4251ad6c830fe6aa82922025-02-03T01:23:36ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/591516591516Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic AneurysmKristi K. Fitzgerald0Abdul Majeed Bhat1Katrina Conard2James Hyland3Christian Pizarro4Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USANemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USADepartment of Pathology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USAConnective Tissue Gene Tests, Allentown, PA 18106, USANemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USAAneurysms-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.http://dx.doi.org/10.1155/2014/591516 |
| spellingShingle | Kristi K. Fitzgerald Abdul Majeed Bhat Katrina Conard James Hyland Christian Pizarro Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm Case Reports in Genetics |
| title | Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm |
| title_full | Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm |
| title_fullStr | Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm |
| title_full_unstemmed | Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm |
| title_short | Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm |
| title_sort | novel smad3 mutation in a patient with hypoplastic left heart syndrome with significant aortic aneurysm |
| url | http://dx.doi.org/10.1155/2014/591516 |
| work_keys_str_mv | AT kristikfitzgerald novelsmad3mutationinapatientwithhypoplasticleftheartsyndromewithsignificantaorticaneurysm AT abdulmajeedbhat novelsmad3mutationinapatientwithhypoplasticleftheartsyndromewithsignificantaorticaneurysm AT katrinaconard novelsmad3mutationinapatientwithhypoplasticleftheartsyndromewithsignificantaorticaneurysm AT jameshyland novelsmad3mutationinapatientwithhypoplasticleftheartsyndromewithsignificantaorticaneurysm AT christianpizarro novelsmad3mutationinapatientwithhypoplasticleftheartsyndromewithsignificantaorticaneurysm |