Genetics of hypertrophic cardiomyopathy: A review of current state

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2018-01, Vol.93 (1), p.3-14
Main Authors: Sabater‐Molina, M., Pérez‐Sánchez, I., Hernández del Rincón, J.P., Gimeno, J.R.
Format: Article
Language:English
Subjects:
Cardiomyopathy
Cardiomyopathy, Hypertrophic - complications
Cardiomyopathy, Hypertrophic - diagnosis
Cardiomyopathy, Hypertrophic - genetics
Death, Sudden, Cardiac - etiology
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genetic screening
Genetic Testing
genetics
Genotype & phenotype
Heart diseases
Humans
hypertrophy
miRNA
Mutation
Sarcomeres - genetics
sudden death
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in 1 of 8 sarcomere protein genes, mainly non‐sense MYBPC3 and missense MYH7 variants. Young patients with severe phenotype and other clinical features are included in proposed scores for prediction of high positive genetic result. The number of genes reported as disease‐causing has increased in the last few years, in some cases without robust evidence. Currently available in silico tools are not always useful for differentiation between benign and deleterious variants. There is enough information on genotype‐phenotype correlations to start understanding the mechanisms of the disease. Genetic and environmental modifiers have been explored with some interesting insights from miRNA studies with potential as biomarkers and therapeutic agents. There is an additional value of genetic testing in HCM for prognosis. Knowledge about genetics and functional studies are the basis of near future therapies.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13027