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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Related Experiment Video

Updated: Jan 15, 2026

Quantitative Whole-mount Immunofluorescence Analysis of Cardiac Progenitor Populations in Mouse Embryos

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Published on: October 12, 2017

New Genetic Loci Implicated in Cardiac Morphology and Function Using Three-Dimensional Population Phenotyping.

Chang Lu¹, Kathryn A McGurk^1,2,3, Sean L Zheng^1,2,4

¹Medical Research Council Laboratory of Medical Sciences, Hammersmith Hospital Campus (C.L., K.A.M., S.L.Z., A.d.M., P.I., J.S.W., D.P.O.), Imperial College London, United Kingdom.

Circulation. Genomic and Precision Medicine

|October 7, 2025

Summary

This study reveals 42 genetic loci influencing heart structure and function, highlighting the role of cardiomyopathy genes in spatial cardiac remodeling. These findings offer insights into heart development and adaptation to stress.

Keywords:

cardiomyopathies genome-wide association study heart ventricles hypertrophy ventricular dysfunction

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Last Updated: Jan 15, 2026

Quantitative Whole-mount Immunofluorescence Analysis of Cardiac Progenitor Populations in Mouse Embryos

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Published on: October 12, 2017

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Published on: November 2, 2020

Area of Science:

Cardiovascular genetics
Cardiac imaging
Molecular biology

Background:

Cardiac remodeling is a complex adaptation process in the mature heart, influenced by early life factors.
Understanding the regulation of heart geometry, motion, and stress adaptation is crucial.

Purpose of the Study:

To identify genetic loci associated with cardiac structure and contractility using spatially resolved phenotyping.
To investigate the role of cardiomyopathy-associated genes in spatial left ventricular remodeling.
To explore causal relationships between blood pressure and cardiac traits.

Main Methods:

Machine learning analysis of cardiac magnetic resonance imaging in UK Biobank participants.
Genome-wide and exome-wide association studies to identify genetic variants.
Integration with GTEx transcriptomic data and pathway enrichment analysis.
Mendelian randomization to assess causal effects of blood pressure on cardiac traits.

Main Results:

Identified 42 loci associated with cardiac structure and contractility, revealing spatial organization patterns.
Discovered 3 additional variants via whole-exome sequencing, including in CSRP3.
Found that newly discovered loci are predominantly in cardiomyopathy-associated genes, regulating spatial left ventricular remodeling.
Demonstrated regional blood pressure modulation of cardiac wall thickness and strain.

Conclusions:

The study provides a comprehensive overview of pathways governing heart development and remodeling.
Highlights the significant role of cardiomyopathy-associated genes in regulating spatial cardiac adaptations, even in individuals without diagnosed disease.