ArticleJournal of human genetics2018
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.Journal of human genetics · 2018Trial
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype.Orphanet journal of rare diseases · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- History and Perspective of LAMP-2 Deficiency (Danon Disease).Biomolecules · 2024Review
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.Cardiovascular diagnosis and therapy · 2024Article
- Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.Human genome variation · 2024Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- [Recent research on childhood hypertrophic cardiomyopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.BMC cardiovascular disorders · 2022Article
- Case Report: Danon Disease: Six Family Members and Literature Review.Frontiers in cardiovascular medicine · 2022Article
- Formins in Human Disease.Cells · 2021Review
- A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene.Journal of cardiology cases · 2021Article
- FHOD formin and SRF promote post-embryonic striated muscle growth through separate pathways in C. elegans.Experimental cell research · 2021Article
- FHOD-1 is the only formin in Caenorhabditis elegans that promotes striated muscle growth and Z-line organization in a cell autonomous manner.Cytoskeleton (Hoboken, N.J.) · 2020Article
- Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in aFrontiers in pediatrics · 2020Article
- Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).Journal of human genetics · 2018Article
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Authors and funding
8 authors at 6 institutions in 1 country.
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Abstract
Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) present a high risk for sudden cardiac death in pediatric patients. The aim of this study was to identify disease-associated genetic variants in Japanese patients with pediatric HCM and RCM. We analyzed 67 cardiomyopathy-associated genes in 46 HCM and 7 RCM patients diagnosed before 16 years of age using a next-generation sequencing system. We found that 78% of HCM and 71% of RCM patients carried disease-associated genetic variants. Disease-associated genetic variants were identified in 80% of HCM patients with a family history and in 77% of HCM patients with no apparent family history (NFH). MYH7 and/or MYBPC3 variants comprised 76% of HCM-associated variants, whereas troponin complex-encoding genes comprised 75% of the RCM-associated variants. In addition, 91% of HCM patients with implantable cardioverter-defibrillators and infant cases had NFH, and the 88% of HCM patients carrying disease-associated genetic variants were males who carried MYH7 or MYBPC3 variants. Moreover, two disease-associated LAMP2, one DES and one FHOD3 variants, were identified in HCM patients. In this study, pediatric HCM and RCM patients were found to carry disease-associated genetic variants at a high rate. Most of the variants were in MYH7 or MYPBC3 for HCM and TNNT2 or TNNI3 for RCM.
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