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2009 Southern Regional Meeting Abstracts
Session: Joint Plenary Poster Session and Reception
An Unusual Cardiac Defect in a Patient with Cardiofaciocutaneous Syndrome
DeSena HC1,2, Niyazov DM3, Parrino PE4, Lucas VW5, Moodie DS5. 1Ochsner Clinic Foundation, New Orleans, LA; 2Tulane University, New Orleans, LA; 3Ochsner Clinic Foundation, New Orleans, LA; 4Ochsner Clinic Foundation, New Orleans, LA and 5Ochsner Clinic Foundation, New Orleans, LA.
Case Report: Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder resulting from a sporadic autosomal dominant mutation and is characterized by multiple congenital abnormalities, including congenital heart disease (CHD), mental retardation (MR), short stature, characteristic dysmorphic features, and abnormalities of the skin, eyes, gastrointestinal tract, and central nervous system. The patient in this case presented with atrial fibrillation and was found to have an aneurysm of left atrial appendage caused by a jet of mitral regurgitation directed toward the left atrial appendage. This rare mitral valve abnormality has not previously been reported in the literature in association with the CFC syndrome. The patient underwent mitral valve replacement and the Cox-Maze III procedure and has remained asymptomatic from a cardiovascular standpoint. He has since been given a diagnosis of Cardiofaciocutaneous syndrome.
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