Article
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.
Heart failure clinics - 1 Apr 2018
Calcagni Giulio, Adorisio Rachele, Martinelli Simone, Grutter Giorgia, Baban Anwar, Versacci Paolo, Digilio Maria Cristina, Drago Fabrizio, Gelb Bruce D, Tartaglia Marco, Marino Bruno
Abstract excerpt
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has...
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