ArticleHeart (British Cardiac Society)1996
Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.
Article in Heart (British Cardiac Society), 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 83 citations in OpenAlex.
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.Frontiers in cardiovascular medicine · 2022Review
- Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.International journal of molecular sciences · 2021Review
- Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.Heart and vessels · 2017Article
- Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.Journal of muscle research and cell motility · 2016Article
- Primary prevention of sudden cardiac death in a low-risk child with familial hypertrophic cardiomyopathy: the role of cardiac magnetic resonance imaging.Clinical research in cardiology : official journal of the German Cardiac Society · 2014Article
- Alpha-tropomyosin mutations in inherited cardiomyopathies.Journal of muscle research and cell motility · 2013Review
- A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.Journal of muscle research and cell motility · 2013Review
- Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Journal of medical genetics · 2013Article
- Thin filament mutations: developing an integrative approach to a complex disorder.Circulation research · 2011Review
- Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.The Journal of physiology · 2008Article
- Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy.Heart (British Cardiac Society) · 2005Article
- Familial cardiomyopathies: significant causes of heart failure.Current cardiology reports · 2003Review
- Review
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveThe disease-bearing genes for hypertrophic cardiomyopathy (HCM) in HCM families have been identified as the beta-myosin heavy chain, alpha-tropomyosin, and cardiac troponin T genes. Three HCM kindreds with three distinct point mutations in the alpha-tropomyosin gene had extensive clinical evaluations. DESIGN AND
resultsSingle-strand conformation polymorphism gel analysis of polymerase chain reaction amplified products was used to capture each of the nine exons from the alpha-tropomyosin gene to identify mutations in 60 familial HCM patients. Two missense mutations in exon 2 (Ala63Val and Lys70Thr) and one missense mutation in exon 5 (Asp175Asn) were found in three unrelated HCM kindreds. These kindreds were the subject of clinical, electrocardiographic and echocardiographic studies. The morphological appearance of HCM was similar in the three kindreds. All the patients had severe hypertrophy of the left ventricle with asymmetrical septal hypertrophy during the early stage of the disease, which gradually progressed to dilatation of the left ventricle. Moreover, these kindreds showed similar disease penetrance, age of onset, and incidence of premature sudden death. The disease in these kindreds was severe and resulted in frequent sudden deaths.
conclusionsAmong Japanese patients with familial HCM mutations in the alpha-tropomyosin gene are not as rare as reported, accounting for about 5% of all cases. These mutations are characterised by hypertrophy of the left ventricle which then progresses to dilatation and a high incidence of sudden or disease-related death.
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