Gene-Echocardiography: Refining Genotype-Phenotype Correlations in Hypertrophic Cardiomyopathy.

Nianwei ZhouHaobo WengWeipeng ZhaoLu TangZhendan GeFangyan TianFangmin MengCuizhen PanXianhong Shu

Published in: European heart journal. Cardiovascular Imaging (2023)

Our findings underscore a strong link between hypertrophic patterns and genetic variants in HCM, providing a foundation for more accurate genetic testing and personalized management of HCM patients. The novel concept of "gene-echocardiography" may enhance the precision and efficiency of genetic counseling and testing in HCM.

Keyphrases

hypertrophic cardiomyopathy
left ventricular
genome wide
copy number
end stage renal disease
computed tomography
ejection fraction
newly diagnosed
heart failure
dna methylation
gene expression
high resolution
genome wide identification
mass spectrometry
hiv infected
patient reported