ArticleClinical genetics2008
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.
Article in Clinical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.Circulation. Cardiovascular genetics · 2013Pooled it
- Myocardial expression of connexin 43 in cats with hypertrophic and restrictive cardiomyopathy phenotype.Open veterinary journal · 2025Article
- The 'Padua classification' of cardiomyopathies into three groups: hypertrophic/restrictive, dilated/hypokinetic, and scarring/arrhythmogenic.European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Storytelling of Hypertrophic Cardiomyopathy Discovery.Journal of cardiovascular development and disease · 2024Review
- Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin IFrontiers in cardiovascular medicine · 2024Article
- Identification of a Missense Mutation in theJournal of multidisciplinary healthcare · 2024Article
- Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.Journal of cardiovascular development and disease · 2022Article
- Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.Reviews in cardiovascular medicine · 2022Review
- Genetic Insights into Primary Restrictive Cardiomyopathy.Journal of clinical medicine · 2022Review
- A novel Troponin I mutation associated with severe restrictive cardiomyopathy-a case report of a 27-year-old woman with fatigue.European heart journal. Case reports · 2022Article
- Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2021Article
- Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.Korean circulation journal · 2021Review
- Replication Stress Response Modifies Sarcomeric Cardiomyopathy Remodeling.Journal of the American Heart Association · 2021Article
- A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.Scientific reports · 2021Article
- Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.Journal of clinical medicine · 2021Review
- A Heterozygous Mutation in Cardiac Troponin T Promotes CaJournal of cardiovascular development and disease · 2021Article
- Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.International journal of molecular sciences · 2021Review
- Mechanisms of Arrhythmogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
We identified a unique family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy (RCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM), and sought to identify the molecular defect that triggered divergent remodeling pathways. Polymorphic DNA markers for nine sarcomeric genes for DCM and/or HCM were tested for segregation with disease. Linkage to eight genes was excluded, but a cardiac troponin T (TNNT2) marker cosegregated with the disease phenotype. Sequencing of TNNT2 identified a heterozygous missense mutation resulting in an I79N substitution, inherited by all nine affected family members but by none of the six unaffected relatives. Mutation carriers were diagnosed with RCM (n = 2), non-obstructive HCM (n = 3), DCM (n = 2), mixed cardiomyopathy (n = 1), and mild concentric left ventricular hypertrophy (n = 1). Endomyocardial biopsy in the proband revealed non-specific fibrosis, myocyte hypertrophy, and no myofibrillar disarray. Restrictive Doppler filling patterns, atrial enlargement, and pulmonary hypertension were observed among family members regardless of cardiomyopathy subtype. Mutation of a sarcomeric protein gene can cause RCM, HCM, and DCM within the same family, underscoring the necessity of comprehensive morphological and physiological cardiac assessment in familial cardiomyopathy screening.
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What OpenQuestion holds
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.