Key result
Twins with hypertrophic cardiomyopathy can exhibit significant phenotypic differences despite identical genetics, highlighting the influence of environmental and epigenetic factors on disease expression.
Why the study?
HCM in twins presents a unique opportunity to explore genetic and epigenetic underpinnings driven by phenotypic heterogeneity among genetically identical individuals.
This review highlights that while HCM has a strong genetic basis, environmental and epigenetic factors significantly influence its clinical presentation, underscoring the importance of genetic screening and personalized management.
Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease characterized by asymmetric thickening of the left ventricular wall, frequently occurring in families predisposed genetically. While HCM in twins is rare, it presents a unique opportunity to explore the disease's genetic and epigenetic underpinnings due to the phenotypic heterogeneity observed even among genetically identical individuals. This review collates and analyzes global clinical studies that focus on the twin phenomena in HCM. It explores the genetic foundations of HCM, examines the influence of environmental and epigenetic factors on disease expression, and emphasizes the crucial role of genetic screening in the early and differential diagnosis of HCM. By focusing on twin cases in HCM, this review aims to enhance our understanding of HCM's complex genetic background, which could lead to more personalized approaches in the management and treatment of this condition, thus drawing significant interest from researchers and clinicians alike.
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Jianshu Zeng (2024) conducted a review in Hypertrophic Cardiomyopathy (HCM). Genetic and environmental factors was evaluated. Twins with hypertrophic cardiomyopathy can exhibit significant phenotypic differences despite identical genetics, highlighting the influence of environmental and epigenetic factors on disease expression.
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