Genetic Influences on Heart Failure Phenotypes
Summary
Heart failure encompasses a spectrum of clinical syndromes driven by structural and functional abnormalities of the myocardium. Phenotypic diversity ranges from impaired contraction (reduced ejection fraction) to altered relaxation and filling (preserved ejection fraction), often reflecting distinct genetic architectures. Monogenic cardiomyopathies illustrate how rare pathogenic variants in sarcomeric or cytoskeletal proteins can precipitate dilated or hypertrophic phenotypes. At the population level, common variants identified through genome-wide and exome-wide studies contribute modest effect sizes but illuminate novel pathways shaping ventricular remodelling. Twin and family studies quantify the heritable component of systolic and diastolic traits, underscoring the interplay between genetic predisposition and environmental exposures. Functional follow-up in human induced pluripotent stem cell models and integration of multi-omic datasets are refining causal mechanisms, with the ultimate aim of stratifying patients for precision therapies and improving prognostic accuracy worldwide.
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Genetic Influences on Heart Failure Phenotypes publication trend
The graph below shows the total number of articles in genetic influences on heart failure phenotypes across all publications each year (not limited to Nature Index journals).
Technical terms
Exome sequencing: Analysis of all protein-coding regions of the genome to identify rare and common variants.
Induced pluripotent stem cell cardiomyocyte (iPSC-CM): Heart muscle cell derived in vitro from reprogrammed adult cells, used for functional studies.
Heritability: Proportion of phenotypic variance in a population attributable to genetic variation.
Polymorphism: A common genetic variation at a specific DNA locus present in at least 1% of the population.
Left ventricular mass index (LVMI): A measure of left ventricular muscle mass adjusted for body size, used to assess hypertrophy.
Systolic function: The phase of cardiac contraction, often quantified by ejection fraction or strain.
Diastolic function: The phase of myocardial relaxation and filling, assessed by velocities and pressure gradients.
References
- Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population. Frontiers in Genetics (2021).
- Association Between AGT M235T and Left Ventricular Mass in Vietnamese Patients Diagnosed With Essential Hypertension. Frontiers in Cardiovascular Medicine (2021).
- Left Ventricular Systolic Function Has Strong Independent Genetic Background from Diastolic Function: A Classical Twin Study. Medicina (2021).
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