GW27-e0275 Genotype-Phenotype Analysis with Hypertrophic Cardiomyopathy in Chinese family with MYH7-V878A, CACNA1C-A1594V mutations
نویسندگان
چکیده
منابع مشابه
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
INTRODUCTION AND OBJECTIVES Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practice. Our aim was to determine the frequency of mu...
متن کاملNext-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a highly heterogeneous disease displaying considerable interfamilial and intrafamilial phenotypic variation, including disease severity, age of onset, and disease progression. This poorly understood variance raises the possibility of genetic modifier effects, particularly in MYBPC3-associated HCM.In a large consanguineous Chinese HCM family, we identified 8 ...
متن کاملDIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY
A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.
متن کاملLetters to the Editor Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
EDITOR—Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease with a wide range of clinical features; a “benign” condition in some families, it can cause a high incidence of sudden death in others. FHC is caused by mutations in at least nine genes encoding sarcomeric proteins. The gene most commonly implicated in causing FHC is that encoding the â-MHC protein. Over 60 misse...
متن کاملMutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
EDITOR—Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease with a wide range of clinical features; a “benign” condition in some families, it can cause a high incidence of sudden death in others. FHC is caused by mutations in at least nine genes encoding sarcomeric proteins. The gene most commonly implicated in causing FHC is that encoding the â-MHC protein. Over 60 misse...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2016
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2016.07.594