hypertrophic cardiomyopathy

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

SHOC2 is a scaffold protein mediating RAS-promoted activation of mitogen-activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities. A second mutation (p.Met173Ile) supposed to cause loss-of-function was more recently identified in two individuals with milder phenotypes.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Background: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers
of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of
morbidity and mortality in patients with molecularly confirmed RASopathy.
Methods: A multicentric, observational, retrospective study was conducted in seven European cardiac centres
participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed

A rare case report of hypertrophic cardiomyopathy induced by catecholamine-producing tumor

RATIONALE: Catecholamine-producing tumors are rare, occurring in less than 0.2% of patients with hypertension, but can have relevant cardiovascular morbidity and mortality.