Key result
Advances in human genome analysis and cardiac imaging have enriched the understanding of hypertrophic cardiomyopathy as a disease of the sarcomere with complex genotype-phenotype correlations.
Why the study?
In hypertrophic cardiomyopathy, the relationship between genotype and phenotype is not straightforward, motivating a discussion of molecular mechanisms and imaging aspects prompting genotype-phenotype correlations.
This review highlights the evolution of understanding hypertrophic cardiomyopathy as a disease of the sarcomere, emphasizing genotype-phenotype correlations driven by molecular and imaging advances.
The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of "asymmetric hypertrophy of the heart in young adults". Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as "a disease of the sarcomere", where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype-phenotype correlations, which will hopefully empower patient-tailored health interventions.
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Popa‐Fotea et al. (2019) conducted a review in Hypertrophic cardiomyopathy. Advances in human genome analysis and cardiac imaging have enriched the understanding of hypertrophic cardiomyopathy as a disease of the sarcomere with complex genotype-phenotype correlations.
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