ArticleHeart (British Cardiac Society)1999
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
Article in Heart (British Cardiac Society), 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- The Brazilian Society of Cardiology and Brazilian Society of Exercise and Sports Medicine Updated Guidelines for Sports and Exercise Cardiology - 2019.Arquivos brasileiros de cardiologia · 2019Guideline
- Circulating microRNA as promising biomarkers in hypertrophic cardiomyopathy: can advanced cardiac magnetic resonance unlock new insights in research?Experimental biology and medicine (Maywood, N.J.) · 2024Review
- High-resolution cryo-EM structure of the junction region of the native cardiac thin filament in relaxed state.PNAS nexus · 2023Article
- What Aspects of Phenotype Determine Risk for Sudden Cardiac Death in Pediatric Hypertrophic Cardiomyopathy?Journal of cardiovascular development and disease · 2022Review
- Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.Frontiers in cardiovascular medicine · 2022Review
- Variant R94C inJournal of the American Heart Association · 2020Article
- Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia.Global cardiology science & practice · 2018Review
- Linking myofilaments to sudden cardiac death: recent advances.The Journal of physiology · 2017Review
- Update on hypertrophic cardiomyopathy and a guide to the guidelines.Nature reviews. Cardiology · 2016Review
- The effect of cardiomyopathy mutation (R97L) in mouse cardiac troponin T on the muscle length-mediated recruitment of crossbridges is modified divergently by α- and β-myosin heavy chain.Archives of biochemistry and biophysics · 2016Article
- TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.Gene · 2016Review
- Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.Heart and vessels · 2013Article
- Mendelian forms of structural cardiovascular disease.Current cardiology reports · 2013Review
- Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.Circulation · 2010Review
- Increased myofilament Ca2+-sensitivity and arrhythmia susceptibility.Journal of molecular and cellular cardiology · 2010Review
- Electrocardiographic amplitudes: a new risk factor for sudden death in hypertrophic cardiomyopathy.European heart journal · 2010Article
- Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.Clinical genetics · 2008Article
- Methods in molecular cardiology: DHPLC mutation detection analysis.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2005Review
- Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.American journal of human genetics · 2003Article
- Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience.Journal of medical genetics · 2002Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo screen for a mutation of the cardiac troponin T gene in two families where there had been sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy.
methodsDNA from affected individuals from both families was used to screen the cardiac troponin T gene on an exon by exon basis. Mutation screening was achieved by polymerase chain reaction and direct sequencing. Where appropriate, a mutation was confirmed by restriction digest.
resultsA novel missense mutation of exon 9 was found in the affected individuals of one of the families. This mutation at amino acid 94 resulted in the substitution of arginine for leucine and was not found in 100 normal control samples. A mutation of the cardiac troponin T gene was excluded in the second family.
conclusionsA mutation of the gene for the sarcomeric protein cardiac troponin T can cause familial hypertrophic cardiomyopathy with marked myocyte disarray and frequent premature sudden death in the absence of myocardial hypertrophy at clinical or macroscopic level.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.