Phenotypic diversity in hypertrophic cardiomyopathy

Michael Arad, J. G. Seidman, Christine E. Seidman*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

161 Scopus citations


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.

Original languageEnglish
Pages (from-to)2499-2506
Number of pages8
JournalHuman Molecular Genetics
Issue number20
StatePublished - 1 Oct 2002
Externally publishedYes


FundersFunder number
Howard Hughes Medical Institute


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