An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and noonan syndromes

DeSena, Holly C., Niyazov, Dmitriy M., Parrino, P. Eugene, Lucas, Victor W., Shah, Sangeeta B. and Moodie, Douglas S. (2010) An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and noonan syndromes. Congenital Heart Disease, 5 1: 70-75. doi:10.1111/j.1747-0803.2009.00329.x


Author DeSena, Holly C.
Niyazov, Dmitriy M.
Parrino, P. Eugene
Lucas, Victor W.
Shah, Sangeeta B.
Moodie, Douglas S.
Title An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and noonan syndromes
Journal name Congenital Heart Disease   Check publisher's open access policy
ISSN 1747-079X
1747-0803
Publication date 2010-01
Sub-type Article (original research)
DOI 10.1111/j.1747-0803.2009.00329.x
Open Access Status
Volume 5
Issue 1
Start page 70
End page 75
Total pages 6
Place of publication Hoboken United States
Publisher Wiley-Blackwell Publishing
Language eng
Formatted abstract
It is important to recognize the possibility of a syndromic etiology of cardiac defects when dysmorphic features and other congenital defects are present. We report a patient who presented with atrial fibrillation and was found to have an abnormal mitral valve, congenital aneurysm of the left atrial appendage, and features consistent with both Cardiofaciocutaneous syndrome and Noonan syndrome. The congenital aneurysm of the left atrial appendage was a previously unreported cardiac presentation for either syndrome. Diagnostic considerations based upon his genotype and phenotype are discussed, along with his unique cardiac presentation and treatment.
Keyword Cardiofaciocutaneous syndrome
Noonan syndrome
Left atrial appendage
Aneurysm
Atrial appendage aneurysm
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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