Naomasa Makita

Phenotypic overlap between long QT syndrome type 1 and Brugada syndrome: Possible insights into monogenic and polygenic architecture

K Nakatsuji, Tsukasa Kamakura, Seiko Ohno, Keiko Sonoda et autres

Long QT syndrome (LQTS) and Brugada syndrome (BrS) are inherited arrhythmia syndromes associated with sudden cardiac death. LQTS is generally considered as a monogenic channelopathy caused by pathogenic variants in genes such as KCNQ1, KCNH2 and SCN5A encoding cardiac ion channels.(1,2) In …

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Current Topics of Progressive Cardiac Conduction Disease

Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa et autres

ABSTRACT Progressive cardiac conduction disease (PCCD) is a rare inheritable cardiac conduction system disease that may lead to complete heart block, syncope, or sudden cardiac death. The estimated incidence of PCCD is 0.0005%/year. Recent advances in genetics have revealed a wide variety …

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A Genome‐Wide Association Study Reveals Desmoglein‐2 Predominance in Japanese Arrhythmogenic Cardiomyopathy

Taisuke Ishikawa, Kyuto Sonehara, Keiko Sonoda, Kenshi Hayashi et autres

ABSTRACT Background Rare pathogenic variations of desmosomal genes, particularly in plakophilin‐2 ( PKP2 ) and desmoglein‐2 ( DSG2 ), have been implicated in arrhythmogenic cardiomyopathy (ACM); however, their potential polygenic contribution remains unclear. Methods We performed a genome‐wide association study of 104 …

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A Genome‐Wide Association Study Reveals

Taisuke Ishikawa, Kyuto Sonehara, Keiko Sonoda, Kenshi Hayashi et autres

Response to the Letter Regarding "If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up is Imperative"

Kento Kumai, H Mochizuki, T Watanabe, Keiko Ohta-Ogo et autres

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Cardiomyopathy Associated with Subclinical Becker Muscular Dystrophy in a Patient Presenting with Anesthesia-induced Rhabdomyolysis

Kento Kumai, Hiroki Mochizuki, Takuya Watanabe, Keiko Ohta‐Ogo et autres

Becker muscular dystrophy (BMD)-associated cardiomyopathy may be overlooked in patients with dilated cardiomyopathy (DCM). We herein report a case of cardiomyopathy related to BMD in which anesthesia-induced rhabdomyolysis led to a diagnosis of BMD. The patient experienced anesthesia-induced rhabdomyolysis during cardiac resynchronization …

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Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants

Taisuke Ishikawa, Hiroki Kimoto, Akiko Seki, Manabu Shirai et autres

AIMS: Truncating variations in the titin gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) and have been implicated in various arrhythmic and heart failure phenotypes. Nonetheless, predicting the pathogenicity of a distinct subtype of TTNtv, canonical splice-site variations …

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Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics

Tasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, Kentaro Otani et autres

Oxidative phosphorylation defects result in now intractable mitochondrial diseases (MD) with cardiac involvement markedly affecting prognosis. The mechanisms underlying the transition from compensation to dysfunction in response to metabolic deficiency remain unclear. Here, we used spatially resolved transcriptomics and single-nucleus RNA sequencing …

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Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469*

Y. Nomura, Taisuke Ishikawa, Seiko Ohno, Naomasa Makita et autres

Holt-Oram syndrome (HOS; OMIM 142900) is a rare autosomal dominant disorder, typically involving upper limb anomalies and cardiac septal defects. HOS is caused by mutations in the TBX5 gene, which encodes a T-box transcription factor. We report a Japanese family with a …

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Screening of 1-Month-Old Infants With Prolonged QT Interval and Its Cutoff Value

Masao Yoshinaga, Hiroya Ushinohama, Seiichi Sato, Seiko Ohno et autres

BACKGROUND: The prevalence of congenital long QT syndrome (LQTS) (1 : 2,000) is based on genetic testing and ECG data, but the prevalence of electrocardiographically determined prolonged corrected QT interval (pQTc) in infants is unclear. METHODS AND RESULTS: Subjects were 10,282 1-month-old …

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Correction: Targeted deep sequencing analyses of long QT syndrome in a Japanese population

Yuki Nagata, Ryo Watanabe, Christian Eichhorn, Seiko Ohno et autres

[This corrects the article DOI: 10.1371/journal.pone.0277242.].

Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

Taisuke Ishikawa, Tatsuo Masuda, Tsuyoshi Hachiya, Christian Dina et autres

BACKGROUND AND AIMS: Brugada syndrome (BrS) is an inherited arrhythmia with a higher disease prevalence and more lethal arrhythmic events in Asians than in Europeans. Genome-wide association studies (GWAS) have revealed its polygenic architecture mainly in European populations. The aim of this …

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