Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations
Author(s) -
Michelle Michels,
Osama Soliman,
Marcel J.M. Kofflard,
Yvonne M. Hoedemaekers,
Dennis Dooijes,
Daniëlle MajoorKrakauer,
Folkert J. ten Cate
Publication year - 2009
Publication title -
jacc. cardiovascular imaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.79
H-Index - 120
eISSN - 1936-878X
pISSN - 1876-7591
DOI - 10.1016/j.jcmg.2008.08.003
Subject(s) - founder effect , hypertrophic cardiomyopathy , genetics , medicine , cardiology , biology , gene , haplotype , genotype
To test the hypothesis that carriers of Dutch founder mutations in cardiac myosin-binding protein C (MYBPC3), without left ventricular hypertrophy (LVH) or electrocardiographic abnormalities, have diastolic dysfunction on tissue Doppler imaging (TDI), which can be used for the screening of family members in the hypertrophic cardiomyopathy (HCM) population.
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