ArticleBMC cardiovascular disorders2020
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy.
Article in BMC cardiovascular disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Percutaneous Intramyocardial Septal Radiofrequency Ablation in Patients With Drug-Refractory Hypertrophic Obstructive Cardiomyopathy.JAMA cardiology · 2022Trial
- Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locus.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.Frontiers in cell and developmental biology · 2026Review
- Are clinical trajectories in obstructive hypertrophic cardiomyopathy mutation-specific? A systematic review and meta-analysis ofFrontiers in cardiovascular medicine · 2026Review
- Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.International journal of molecular sciences · 2025Article
- The influence of genotype on the phenotype and prognosis of patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2025Article
- The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.Pediatric research · 2025Article
- Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy.ESC heart failure · 2025Article
- Hypertrophic Cardiomyopathy: Current Perspectives.Reviews in cardiovascular medicine · 2025Review
- Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications.Journal of cardiovascular imaging · 2025Review
- Unravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.Genes · 2025Article
- Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.World journal of cardiology · 2025Review
- Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development.Scientific reports · 2024Article
- Review
- Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.Scientific reports · 2024Article
- Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.BMC medical genomics · 2024Article
- Evolving Strategies for the Management of Obstructive Hypertrophic Cardiomyopathy.Journal of cardiac failure · 2024Review
- MYH7 mutation is associated with mitral valve leaflet elongation in patients with obstructive hypertrophic cardiomyopathy.Heliyon · 2024Article
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
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Authors and funding
18 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundHypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.
methodsAs a part of the international multidisciplinary SILICOFCM project ( www.silicofcm.eu ) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.
resultsThe most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e' ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079).
conclusionsMajor findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.
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