Restrictive cardiomyopathy is an uncommon heart muscle disorder
characterized by reduced diastolic volume and an impaired ventricular filling in the
presence of a normal systolic function and normal or near normal myocardial thickness
(progressive symptoms of heart failure) with various gene mutations having been
identified in cardiac genes (desmin, α-actin, troponin I and troponin T). It is a clinically
challenging type of cardiomyopathy due to it is diverse etiopathogenesis, and a
heterogeneous group of myocardial diseases which usually result from an increased
myocardial stiffness leading to impaired ventricular filling with an often-poor
prognosis in infants, and children. Despite advances in resynchronization and
pharmacological therapy, many patients progress to end-stage heart failure as
congestive heart failure continue to remain a severe burden even in the Western World
with patients been either candidate for a heart transplant or a left ventricular assist
device therapy. This chapter will focus primarily on clinical practice for primary care
physicians and pediatric heart failure cardiologist. It will also go further to highlight the
clinical and functional characteristics of restrictive cardiomyopathy linked mutations
within the troponin complex, as well as address both clinical and reported functional
studies for known troponin mutations associated with restrictive cardiomyopathy.
Keywords: Adolescents, Cardiomyopathies, Children, Diagnosis, Diastolic
dysfunction, Genetic diseases, Heart failure, Infants, Outcome, Prognosis,
Pulmonary hypertension, Restrictive cardiomyopathy, Syncope, Surgery, Sudden
cardiac death, Structural and functional changes, Transplantation, Treatment,
Ventricular assist device.
