ArticleJournal of the American College of Cardiology2014
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Article in Journal of the American College of Cardiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 3 of them syntheses that pooled it.
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Who cites it
92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 165 citations in OpenAlex.
- A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Pooled it
- Global and Temporal Trends in Utilization and Outcomes of Implantable Cardioverter Defibrillators in Hypertrophic Cardiomyopathy.Circulation. Arrhythmia and electrophysiology · 2025Pooled it
- Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Prevalence and determinants of asymmetric septal hypertrophy (ASH) in diseases of left ventricular hypertrophy (LVH).European heart journal. Cardiovascular Imaging · 2026Article
- Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice.Circulation. Genomic and precision medicine · 2026Article
- Organelle network dysfunction in primary cardiomyopathy: An integrated perspective on pathogenesis and therapeutics.Journal of molecular and cellular cardiology plus · 2026Review
- Immature and mature myocardium in the pathophysiology of hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology plus · 2026Review
- Sex Differences in Hypertrophic Cardiomyopathy.Current cardiology reports · 2026Review
- Left atrial dysfunction in different morphologic phenotypes of hypertrophic cardiomyopathy: a cardiac magnetic resonance feature tracking study.Quantitative imaging in medicine and surgery · 2026Article
- The hypertrophic cardiomyopathy mutation G768R makes cardiac myosin a high duty ratio motor.bioRxiv : the preprint server for biology · 2026Article
- Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort.Arquivos brasileiros de cardiologia · 2026Observational
- Cardiovascular Health and Outcomes in Carriers With Genetic Variants of Hypertrophic Cardiomyopathy.Mayo Clinic proceedings · 2026Article
- MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.European journal of human genetics : EJHG · 2025Article
- The influence of genotype on the phenotype and prognosis of patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2025Article
- Evaluation of sudden cardiac death in hypertrophic cardiomyopathy.Journal of cardiovascular imaging · 2025Review
- Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy.World journal of cardiology · 2025Review
- Hypertrophic cardiomyopathy.Nature reviews. Disease primers · 2025Review
- Cardiac magnetic resonance markers of pre-clinical hypertrophic and dilated cardiomyopathy in genetic variant carriers.BMC medicine · 2025Article
- Exploring the Current Status of Risk Stratification in Hypertrophic Cardiomyopathy: From Risk Models to Promising Techniques.Journal of cardiovascular development and disease · 2025Review
- Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.Journal of clinical medicine · 2025Article
32 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundMild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved.
objectivesThis study aimed to assess clinical features and outcomes in a large cohort of patients with HCM associated with thin-filament mutations compared with thick-filament HCM.
methodsAdult HCM patients (age >18 years), 80 with thin-filament and 150 with thick-filament mutations, were followed for an average of 4.5 years.
resultsCompared with thick-filament HCM, patients with thin-filament mutations showed: 1) milder and atypically distributed left ventricular (LV) hypertrophy (maximal wall thickness 18 ± 5 mm vs. 24 ± 6 mm; p < 0.001) and less prevalent outflow tract obstruction (19% vs. 34%; p = 0.015); 2) higher rate of progression to New York Heart Association functional class III or IV (15% vs. 5%; p = 0.013); 3) higher prevalence of systolic dysfunction or restrictive LV filling at last evaluation (20% vs. 9%; p = 0.038); 4) 2.4-fold increase in prevalence of triphasic LV filling pattern (26% vs. 11%; p = 0.002); and 5) similar rates of malignant ventricular arrhythmias and sudden cardiac death (p = 0.593).
conclusionsIn adult HCM patients, thin-filament mutations are associated with increased likelihood of advanced LV dysfunction and heart failure compared with thick-filament disease, whereas arrhythmic risk in both subsets is comparable. Triphasic LV filling is particularly common in thin-filament HCM, reflecting profound diastolic dysfunction.
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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.