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Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain

Published online by Cambridge University Press:  10 May 2016

Peng Zhao ,
Hong-Li Cui ,
Ting-Ting He ,
Ji-Gang Wang ,
Dong Wang ,
Xin-Xing Feng ,
Yu-Bao Zou ,
Yi-Lu Wang ,
Ji-Zheng Wang  and
Ru-Tai Hui
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Peng Zhao
Affiliation:
Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, China
Hong-Li Cui
Affiliation:
Department of Forensic Medicine, Medical College of Qingdao University, Qingdao, China
Ting-Ting He
Affiliation:
Department of Forensic Medicine, Medical College of Qingdao University, Qingdao, China
Ji-Gang Wang*
Affiliation:
Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, China
Dong Wang
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Xin-Xing Feng
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Yu-Bao Zou
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Yi-Lu Wang
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Ji-Zheng Wang
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Ru-Tai Hui
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Lei Song
Affiliation:
State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
*
Correspondence to: Dr J.-G. Wang, Department of Pathology, The Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao 266003, China. Tel: +86 532 8291 9353; Fax: +86 532 8291 9900; E-mail: qdwangjigang@hotmail.com
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Abstract

The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the β-myosin heavy chain. Neither the proband’s father nor the mother were carriers of this sequence variant; thus, the mutation was classified as “de novo”. Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.

Keywords

Hypertrophic cardiomyopathyGly716Argprognosis
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Issue 3 , March 2017 , pp. 467 - 472
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Copyright
© Cambridge University Press 2016 

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