IMR Press / RCM / Volume 23 / Issue 3 / DOI: 10.31083/j.rcm2303108
Open Access Review
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling
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1 College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38103, USA
2 Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA
3 Children’s Foundation Research Institute, Le Bonheur Children’s Hospital, Memphis, TN 38103, USA
4 Pediatric Cardiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA
*Correspondence: (Michelle Chintanaphol); (Enkhsaikhan Purevjav)
Academic Editors: Sophie Mavrogeni and Robert C Hendel
Rev. Cardiovasc. Med. 2022, 23(3), 108;
Submitted: 18 August 2021 | Revised: 8 October 2021 | Accepted: 25 October 2021 | Published: 17 March 2022
(This article belongs to the Special Issue State-of-the-Art Cardiovascular Medicine in the USA 2022)
Copyright: © 2022 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

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 Ca2+ sensitivity, sarcomere disruption, and protein aggregates are some of the few mechanisms of pathogenesis that have been revealed by studies utilizing cell lines and animal models. Additional exploration into the pathogenesis of RCM is necessary to create novel therapeutic strategies to reverse restrictive cardiomyopathic phenotypes.

restrictive cardiomyopathy
restrictive physiology
Fig. 1.
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