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Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem

Li Feng1,2, Jianhua Zhang1, ChangHwan Lee3

  • 1Cellular and Molecular Arrhythmia Research Program, Division of Cardiovascular Medicine, Department of Medicine (L.F., J.Z., G.K., E.L., C.L.A., K.M.O., L.L.E., C.T.J., T.J.K.), University of Wisconsin-Madison.

Circulation. Arrhythmia and Electrophysiology
|March 17, 2021
PubMed

Keywords:
electrophysiologyion channellong QT syndromephenotypestem cell

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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