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Human Molecular Genetics, 2002, Vol. 11, No. 20 2499-2506
© 2002 Oxford University Press

Phenotypic diversity in hypertrophic cardiomyopathy

Michael Arad1, J.G. Seidman1 and Christine E. Seidman1,2,*

1Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA, USA and 2Division of Cardiology, Brigham and Women's Hospital, Boston, MA, USA

Received July 9, 2002; Accepted July 17, 2002

In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy (HCM) switched from discovering novel genes and defining disease-causing mutations to studies of mutation distribution in disease populations. Eventually these studies will define genotype–phenotype relationships, which may provide clues to understanding the disease process and help to select the most appropriate treatment strategy. Animal models engineered to recapitulate human disease provide a unique tool to investigate the pathogenic mechanisms and evaluate potential therapies. In this review, we present the spectrum of clinical HCM in the context of the genetic heterogeneity of this common human disease. Recent progress made in understanding molecular pathways that result in cardiac hypertrophy and the factors that modify these processes are discussed.

* To whom correspondence should be addressed at: Department of Genetics, Alpert 533, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA. Tel: +1 6174327871; Fax: +1 6174327832; Email: cseidman{at}rascal.med.harvard.edu


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