Role of Genetic Screening in a Chinese Woman of Childbearing Age with Hypertrophic Cardiomyopathy
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概要
- 論文の詳細を見る
<B>Background:</B> The pregnancy of woman with hypertrophic cardiomyopathy is the high potential risk of genetic transmission of this disease to her child. This study tried to discuss the role of genetic screening in the female of childbearing age with hypertrophic cardiomyopathy. <B>Methods and Results:</B> One 39 year-old woman with hypertrophic cardiomyopathy was referred to the hospital to get an implantable cardioverter defibrillator because she strongly desires to get a healthy baby. Genomic DNA was isolated and direct sequence was used to screen the most common causal genes for hypertrophic cardiomyopathy. A known pathogenetic heterozygous mutation c. G700A (p.Arg186Gln) in TNNI3 was found, which was not found in 100 normal control individuals. She will get a healthy baby in vitro fertilization from a healthy female donor to prevent from the inherited hypertrophic cardiomyopathy. <B>Conclusion:</B> A pathogenetic TNNI3 mutation was found in a Chinese woman of childbearing age with hypertrophic cardiomyopathy. The genetic screening definite DNA-based diagnosis and will help her to design a healthy fertilization in vitro.
- 日本不整脈学会の論文
著者
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Wu Qinghua
Department Of Powder Metallurgy University Of Science And Technology Beijing
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Zhou Hui
Department Of Biochemistry And National Key Laboratory Of Pharmaceutical Biotechnology Nanjing Unive
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Hong Kui
Department Of Cardiology Second Affiliated Hospital Of Nanchang University
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Hong Kui
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Hu Jinzhu
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Li JuXiang
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Hu JianXin
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Cao Qing
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Jiang Xinghua
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Wu YanQing
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Cheng XiaoShu
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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Brugada Pedro
Department of Heart Rhythm Management Center
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Brugada Roman
Department of Cardiovascular Genetics Center, UdG-IdIBGi, University of Girona
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Wu QingHua
Department of Cardiology, The Second Affiliated Hospital of NanChang University
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- Role of Genetic Screening in a Chinese Woman of Childbearing Age with Hypertrophic Cardiomyopathy