RT Book, Section A1 Arbustini, Eloisa A1 Di Toro, Alessandro A1 Giuliani, Lorenzo A1 Dec, G. William A1 Narula, Jagat A2 Fuster, Valentin A2 Narula, Jagat A2 Vaishnava, Prashant A2 Leon, Martin B. A2 Callans, David J. A2 Rumsfeld, John S. A2 Poppas, Athena SR Print(0) ID 1202454401 T1 Restrictive Heart Diseases T2 Fuster and Hurst's The Heart, 15e YR 2022 FD 2022 PB McGraw-Hill Education PP New York, NY SN 9781264257560 LK accesscardiology.mhmedical.com/content.aspx?aid=1202454401 RD 2024/10/13 AB Chapter SummaryThis chapter provides an overview of restrictive heart diseases, conditions characterized by diastolic dysfunction in the presence of elevated left ventricular filling pressures and limited increase in volume. The diastolic dysfunction may be observed in myocardial (restrictive cardiomyopathy [RCM] and phenocopies), endocardial/endomyocardial (fibrosis, elastosis), and pericardial (constriction, effusion) diseases (see Fuster and Hurst’s Central Illustration). Primary RCMs are rare myocardial diseases and are defined by restrictive ventricular physiology in the presence of normal or reduced diastolic volumes of one or both ventricles, normal or reduced systolic volumes, and normal ventricular wall thickness, with significant atrial dilation. They carry a poor prognosis. Familial RCM are usually caused by mutations in genes encoding for sarcomeric proteins and intermediate filaments. Restrictive endomyocardial diseases include endomyocardial fibrosis of right, left, or both ventricles, frequently with involvement of valves, Hedinger syndrome of the right-sided heart valves in patients with neuroendocrine tumors and carcinoid syndrome, as well as endocardial fibroelastosis associated with congenital heart anomalies.