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.