2002 - Awarded Grant

Wendy Chung, MD, PhD

Molecular Genetic Stratification of Familial Hypertrophic Cardiomyopathy
Columbia University, New York, NY
2002 Amount Awarded – $45,000

Familial hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disease, and the clinical course and prognosis vary according to the gene and specific mutation involved. Identification of the genetic basis would be useful in patient management and predicting other pre-symptomatic susceptible individuals within families. Because of the large number of different genes involved in familial HCM, genetic testing for this condition is expensive and not currently clinically available. The goal of this study was to develop a method for efficiently and cost effectively determining the genetic basis of HCM in families through linkage analysis and then direct mutations identification. This would also allow us to stratify an individual's risk of heart failure and arrhythmia, to potentially identify pre-symptomatic individuals and to develop individualized methods of clinical surveillance and management. This strategy would be particularly important in rare families in which there is a high risk of sudden death before there is evidence of hypertrophy on echocardiogram.

Stay Informed
Keep current on PCM research and CCF happenings in our Heart to Heart newsletter.
Unite and Fight
Connect with hundreds of other families struggling with this disease through our online member community.
Shop for a Cure
Shop for CCF merchandise to support our research and education efforts.
The Children's Cardiomyopathy Foundation is a 501 (c)(3) non-profit recognized by the U.S. Internal Revenue Service.
© 2019 Children's Cardiomyopathy Foundation. All rights reserved.