| An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes. | |
| | |
MedLine Citation:
|
PMID: 20136862 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Holly C DeSena; Dmitriy M Niyazov; P Eugene Parrino; Victor W Lucas; Sangeeta B Shah; Douglas S Moodie |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Congenital heart disease Volume: 5 ISSN: 1747-0803 ISO Abbreviation: Congenit Heart Dis Publication Date: 2010 Jan-Feb |
Date Detail:
|
Created Date: 2010-02-08 Completed Date: 2010-04-22 Revised Date: 2011-05-05 |
Medline Journal Info:
|
Nlm Unique ID: 101256510 Medline TA: Congenit Heart Dis Country: United States |
Other Details:
|
Languages: eng Pagination: 70-5 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Tulane University, New Orleans, LA 70112, USA. hdesena@tulane.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple*
/
diagnosis,
genetics,
surgery Atrial Appendage / abnormalities*, surgery Atrial Fibrillation / diagnosis, genetics*, surgery Cardiac Surgical Procedures DNA Mutational Analysis Electrocardiography Genotype Heart Aneurysm / congenital*, diagnosis, genetics, surgery Heart Defects, Congenital / complications*, diagnosis, genetics, surgery Heart Valve Prosthesis Implantation Humans Magnetic Resonance Imaging Male Middle Aged Mitral Valve / abnormalities*, surgery Noonan Syndrome / complications*, diagnosis, genetics, surgery Phenotype Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Cryothermal catheter ablation of atrioventricular nodal reentrant tachycardia in a pediatric patient...
Next Document: Hypoplastic right lung associated with right pulmonary vein stenosis and systemic collateral.