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Comment & Response
June 14, 2017

Identifying Genotypes and Phenotypes of Cardiovascular Diseases Using Big Data Analytics

Author Affiliations
  • 1Department of Internal Medicine, Mount Sinai St Luke’s and Mount Sinai West Hospitals, Icahn School of Medicine at Mount Sinai, New York, New York
  • 2Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, Ohio
JAMA Cardiol. Published online June 14, 2017. doi:10.1001/jamacardio.2017.1857

To the Editor We read the article by Ho et al1 with great interest. The authors shed light on the concept of genotypic and phenotypic classification of complex heterogeneous cardiovascular diseases (CVDs), such as hypertrophic cardiomyopathy (HCM). The study found that mutation carriers without left ventricular hypertrophy had altered cardiac dimensions and function and a higher percentage of early phenotypes than observed in healthy control individuals.1 The implication is that phenotype alone may not adequately detect early pathophysiologic changes of HCM and that a combined genotypic and phenotypic approach may be needed, as the association is not always linear.

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