Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype

Despite carrying the same pathogenic variant, the phenotypical presentation and clinical course vary widely, despite a similar risk profile, suggesting the influence of genetic/epigenetic and environmental factors on disease progression.

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Publication Details

Journal
European Heart Journal - Case Reports
Published
2025-10-29
DOI
https://doi.org/10.1093/ehjcr/ytaf522
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype

Santiago Nava, Manlio F. Márquez, Roberto Cano-Zárate, Armando Totomoch-Serra et al.
European Heart Journal - Case Reports
Cardiomyopathy and Myosin Studies
article

Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype

Santiago Nava, Manlio F. Márquez, Roberto Cano-Zárate, Armando Totomoch-Serra, Carmen A. Sánchez-Contreras, Clara A. Vázquez Antona, Juan P Casillas-Muñoz, Dennys A Mas-Bautista
article en

Abstract

Despite carrying the same pathogenic variant, the phenotypical presentation and clinical course vary widely, despite a similar risk profile, suggesting the influence of genetic/epigenetic and environmental factors on disease progression.

European Heart Journal - Case ReportsVol. 9(11)
Centro Médico ABC (MX), Instituto Nacional de Cardiología (MX)
Openalex Percentile: Top 50%
Cardiomyopathy and Myosin Studies
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