Restrictive Cardiomyopathy: A Comprehensive Literature Review

Cardiomyopathy refers to a spectrum of diseases affecting the heart, impairing the organ’s ability to effectively pump blood to the rest of the body. The notion encompasses a wide array of conditions, including dilated, hypertrophic, and restrictive cardiomyopathy (RCM) among many others. RCM is the least common and least understood subtype of cardiomyopathies. It is characterized by ventricular stiffening and diastolic dysfunction, eventually leading to pulmonary and circulatory congestion. Symptoms such as dyspnea and exercise intolerance develop gradually, often culminating in fatal arrhythmias and heart failure, thus eventually requiring cardiac transplantation as the only currently available curative option. RCM can be classified as primary or secondary, and the etiology of RCM falls under three main categories: genetic, nonheritable, and idiopathic. While recent research has significantly advanced our knowledge of RCM, its genetic basis remains poorly understood. This review focuses on the pathophysiology, clinical manifestation, prognosis and diagnosis, molecular genetics, and management of RCM including related challenges. Through critically examining new genetic insights, novel diagnostic strategies, and gaps in the treatment approaches, this review provides a valuable resource for cardiologists and molecular geneticists to further understand this intricate group of cardiac disorders.