ArticleEuropean heart journal2023
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Article in European heart journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 4 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 4 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Pooled it
- Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026Pooled it
- Phenotypic Spectrum of Subclinical Sarcomere-Related Hypertrophic Cardiomyopathy and Transition to Overt Disease.Circulation. Genomic and precision medicine · 2024Pooled it
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024Pooled it
- Clinical and Genetic Characteristics of Hereditary Arrhythmias and Cardiomyopathies in the Middle East.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Review
- Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.Genome medicine · 2026Article
- Article
- Leveraging Large and Diverse Biobanks to Evaluate Gene-Disease Associations in Hypertrophic Cardiomyopathy.Journal of personalized medicine · 2026Article
- Article
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Article
- Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.Precision clinical medicine · 2025Article
- Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.Journal of genetic counseling · 2025Review
- The Role of Cardiac Magnetic Resonance Imaging in the Management of Hypertrophic Cardiomyopathy.Journal of cardiovascular development and disease · 2025Review
- Altered Lactylation Myocardial Tissue May Contribute to a More Severe Energy-Deprived State of the Tissue and Left Ventricular Outflow Tract Obstruction in HOCM.Bioengineering (Basel, Switzerland) · 2025Article
- Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.Journal of the American College of Cardiology · 2025Article
- Structural and Functional Characterization of the Aorta in Hypertrophic Obstructive Cardiomyopathy.Circulation. Heart failure · 2025Article
- Construction of a competitive endogenous RNA network and identification of potential regulatory axes in hypertrophic cardiomyopathy.Frontiers in cardiovascular medicine · 2025Article
- A Case Study Identified a New Mutation in theInternational journal of general medicine · 2025Article
- Matrisome remodeling in the myocardium of hypertrophic cardiomyopathy; novel targets for molecular diagnostics.Frontiers in cell and developmental biology · 2025Review
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Authors and funding
19 authors at 8 institutions in 3 countries.
Funding
Abstract
aimsHypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. Accurate interpretation of these variants constitutes a major challenge for diagnosis and implementing precision medicine, especially in understudied populations. The aim is to define the genetic architecture of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls. METHODS AND
resultsProspective Egyptian patients (n = 514) and controls (n = 400) underwent clinical phenotyping and genetic testing. Rare variants in 13 validated HCM genes were classified according to standard clinical guidelines and compared with a prospective HCM cohort of majority European ancestry (n = 684). A higher prevalence of homozygous variants was observed in Egyptian patients (4.1% vs. 0.1%, P = 2 × 10-7), with variants in the minor HCM genes MYL2, MYL3, and CSRP3 more likely to present in homozygosity than the major genes, suggesting these variants are less penetrant in heterozygosity. Biallelic variants in the recessive HCM gene TRIM63 were detected in 2.1% of patients (five-fold greater than European patients), highlighting the importance of recessive inheritance in consanguineous populations. Finally, rare variants in Egyptian HCM patients were less likely to be classified as (likely) pathogenic compared with Europeans (40.8% vs. 61.6%, P = 1.6 × 10-5) due to the underrepresentation of Middle Eastern populations in current reference resources. This proportion increased to 53.3% after incorporating methods that leverage new ancestry-matched controls presented here.
conclusionStudying consanguineous populations reveals novel insights with relevance to genetic testing and our understanding of the genetic architecture of HCM.
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