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Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia
Author(s) -
Tomás RipollVera,
Jorge Álvarez-Rubio
Publication year - 2018
Publication title -
global cardiology science and practice
Language(s) - English
Resource type - Journals
ISSN - 2305-7823
DOI - 10.21542/gcsp.2018.26
Subject(s) - hypertrophic cardiomyopathy , medicine , sudden cardiac death , disease , sudden death , natural history , phenotype , mutation , cardiology , cardiomyopathy , muscle hypertrophy , gene , heart failure , genetics , biology
[first paragraph of article] Hypertrophic cardiomyopathy (HCM) is an inherited autosomal-dominant disease with a heterogeneous clinical presentation and natural history , and is a frequent cause of sudden cardiac death (SCD) in young people . It is associated with mutations in genes coding for sarcomere proteins . In the literature, debate surrounds the genotype-phenotype correlation of individual mutations concerning establishing a prognosis according to the mutation present, which could help stratify the disease and allow appropriate genetic counselling to families.

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