Open AccessPrevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy
Author(s) -
Dana Fourey,
Melanie Care,
Katherine A. Siminovitch,
Adaya WeisslerSnir,
Waseem Hindieh,
Raymond H. Chan,
Michael H. Gollob,
Harry Rakowski,
Ar Adler
Publication year - 2017
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.116.001685
Subject(s) - hypertrophic cardiomyopathy , medicine , cohort , mutation , gene mutation , cardiomyopathy , genotype phenotype distinction , disease , genotype , phenotype , genetics , gene , biology , heart failure
Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification.
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