Novel Compound Heterozygosity in Desmoglein-2 Associated with Arrhythmogenic Right Ventricular Cardiomyopathy
スポンサーリンク
概要
- 論文の詳細を見る
A 42-year-old female was referred to us due to shortness of breath for several years. Her 12-lead ECG showed sinus rhythm with inverted T waves in leads V1–5, accompanied with premature ventricular contraction of left bundle branch block morphology with a superior axis. A Holter ECG recording revealed the presence of over 7,000 ventricular extrasystoles. Signal-averaged ECG recording revealed late potentials. Right ventriculography showed an enlarged and hypokinetic right ventricle with anterior wall dyskinesia. These findings fulfilled the diagnostic task force criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC). Genetic screening of major ARVC-causing desmosome genes (junction plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2) identified 2 novel mutations, S194L and R292C, in desmoglein-2, which were not identified in 160 control alleles. Investigation of her parents revealed that S194L and R292C are maternal and paternal traits, respectively, although her parents had remained asymptomatic. Echocardiography of her father did not show any abnormalities, while that of her mother revealed structural abnormality in right ventricle. It can be speculated that although each of these mutations alone may not be sufficient to cause symptomatic ARVC, otherwise, may cause ARVC with incomplete penetrance, compound heterozygous mutations may invariably cause ARVC. The present case provides a novel insight into the genetic basis of Japanese patients with ARVC.
著者
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Iso Tatsuya
Department of Medicine and Biological Science, Gunma University Graduate School of Medicine
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Iijima Takafumi
Department Of Medicine And Biological Science Gunma University Graduate School Of Medicine
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Takahashi Rieko
Department Of Cardiology Sakakibara Heart Institute
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Irie Tadanobu
Department Of Medicine And Biological Science Gunma University Graduate School Of Medicine
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Kato Toshimitsu
Department Of Medicine And Biological Science Gunma University Graduate School Of Medicine
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Kaneko Yoshiaki
Department Of Cardiology The Heart Institute Of Japan Tokyo Women's Medical College
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Iso Tatsuya
Department Of Medicine And Biological Science
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Kurabayashi Masahiko
Department Of Cardiology Kanazawa Medical University
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Nakajima Tadashi
Department Of Applied Biology Faculty Of Textile Science And Technology Shinshu University
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Kato Toshimitsu
Department of Medicine and Biological Medicine, Gunma University Graduate School of Medicine, Japan
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