Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia

Tomas Ripoll-Vera, Jorge Alvarez-Rubio

Abstract


[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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DOI: http://dx.doi.org/10.21542/gcsp.2018.26

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Copyright (c) 2018 Tomas Ripoll-Vera, Jorge Alvarez-Rubio

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