Clinical Expression in Patients With Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Gene Mutation

摘要: To the Editor: Hypertrophic cardiomyopathy is a primary cardiac disorder, mostly genetically transmitted, with heterogeneous clinical and morphological expression. Analysis of expression several genetic alterations has previously focused mainly on unfavorable manifestations. In this regard, recent articles by Charron colleagues1 Niimura colleagues2 that describe delayed hypertrophy favorable course in patients mutations gene for myosin-binding protein C (MyBP-C) are indeed important contributions to an understanding phenotype-genotype correlations at mild end spectrum disease. However, these reports did not include precise distribution left ventricular hypertrophy, which importance diagnosis management disorder. We had opportunities study 6 probands from small Japanese families living Kochi prefecture who were found have same mutation MyBP-C gene: …