ArticleRevista espanola de cardiologia (English ed.)2018
Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.
Article in Revista espanola de cardiologia (English ed.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 31 citations in OpenAlex.
- Characterizing clinically recognized hypertrophic cardiomyopathy in six European countries using real-world data.ESC heart failure · 2026Observational
- Zebrafish dspb-/- mutant as a model for non-dilated left ventricular cardiomyopathy: exploring cardiac dysfunction and exercise modulation.Molecular biomedicine · 2026Article
- ZeCardioAI: combining zebrafish, AI, and xAI for an in-depth cardiac phenotyping platform.Briefings in bioinformatics · 2026Article
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- Fit Hearts, Better Outcomes? A Systematic Review and Meta-Analysis of Exercise Intensity and Peak VOJournal of clinical medicine · 2025Review
- Clinical course of adults with co-occurring hypertrophic cardiomyopathy and hypertension: A scoping review.American heart journal plus : cardiology research and practice · 2024Article
- Hypertrophic cardiomyopathy inThe journal of cardiovascular aging · 2024Article
- Tracking updates in clinical databases increases efficiency for variant reanalysis.Genetics in medicine open · 2024Article
- Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.European heart journal. Quality of care & clinical outcomes · 2022Article
- Shared Molecular Mechanisms of Hypertrophic Cardiomyopathy and Its Clinical Presentations: Automated Molecular Mechanisms Extraction Approach.Life (Basel, Switzerland) · 2021Article
- Review
- Genetic Factors Involved in Cardiomyopathies and in Cancer.Journal of clinical medicine · 2020Review
- Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide population-based cohort study.PloS one · 2020Article
- Deletion Polymorphism of Angiotensin Converting Enzyme Gene is Associated with Left Ventricular Hypertrophy in Uighur Hypertension-Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) Patients.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Challenges and Controversies in Hypertrophic Cardiomyopathy: Clinical, Genomic and Basic Science Perspectives.Revista espanola de cardiologia (English ed.) · 2018Article
- Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany-An analysis of over 5 million patients.PloS one · 2018Article
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10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
INTRODUCTION AND
objectivesHypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM.
methodsWe evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations. The relationship between sex, hypertension, physical activity, and left ventricular hypertrophy was studied.
resultsThe proportion of affected individuals increased with age. Men developed the disease 12.5 years earlier than women (adjusted median, 95%CI, -17.52 to -6.48; P < .001). Hypertensive patients were diagnosed with HCM later (10.8 years of delay) than normotensive patients (adjusted median, 95%CI, 6.28-17.09; P < .001). Individuals who performed physical activity were diagnosed with HCM significantly earlier (7.3 years, adjusted median, 95%CI, -14.49 to -1.51; P = .016). Sex, hypertension, and the degree of physical activity were not significantly associated with the severity of left ventricular hypertrophy. Adjusted survival both free from sudden death and from the combined event were not influenced by any of the exploratory variables.
conclusionsMen and athletes who are carriers of sarcomeric mutations are diagnosed earlier than women and sedentary individuals. Hypertensive carriers of sarcomeric mutations have a delayed diagnosis. Sex, hypertension, and physical activity are not associated with disease severity in carriers of HCM causative mutations.
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