Academic Editors: Sophie Mavrogeni and Robert C Hendel
Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle
disorder, is characterized by diastolic dysfunction due to abnormal muscle
relaxation and myocardial stiffness resulting in restrictive filling of the
ventricles. Diastolic dysfunction is often accompanied by left atrial or
bi-atrial enlargement and normal ventricular size and systolic function. RCM is
the rarest form of cardiomyopathy, accounting for 2–5% of pediatric
cardiomyopathy cases, however, survival rates have been reported to be 82%,
80%, and 68% at 1-, 2-, and 5-years after diagnosis, respectively. RCM can be
idiopathic, familial, or secondary to a systemic disorder, such as amyloidosis,
sarcoidosis, and hereditary hemochromatosis. Approximately 30% of cases are
familial RCM, and the genes that have been linked to RCM are cTnT,
cTnI, MyBP-C, MYH7, MYL2, MYL3,
DES, MYPN, TTN, BAG3, DCBLD2,
LNMA, and FLNC. Increased Ca