IMR Press / RCM / Volume 23 / Issue 6 / DOI: 10.31083/j.rcm2306185
Open Access Review
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations
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1 The First Dongguan Affiliated Hospital, Guangdong Medical University, 523710 Dongguan, Guangdong, China
2 Department of Endocrinology and Metabolism, Zhuhai Hospital Affiliated to Jinan University; The First Hospital Affiliated to Medical College of Macao University of Science and Technology, 519000 Zhuhai, Guangdong, China
3 The Second Department of Cardiology, The Second People's Hospital of Guangdong Province, 510310 Guangzhou, Guangdong, China
*Correspondence: (Yubi Lin)
Academic Editor: John Lynn Jefferies
Rev. Cardiovasc. Med. 2022, 23(6), 185;
Submitted: 18 January 2022 | Revised: 11 March 2022 | Accepted: 21 March 2022 | Published: 25 May 2022
(This article belongs to the Special Issue Novel Gene Discovery in Cardiomyopathy)
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) is an uncommon cardiac muscle disease characterized by impaired ventricular filling and severe diastolic dysfunction with or without systolic dysfunction. The patients with RCM present poor prognosis and high prevalence of sudden cardiac death, especially in the young. The etiology of RCM may be idiopathic, familial or acquired predispositions from various systemic diseases. The genetic background of familial RCM is often caused by mutations in genes encoding proteins of sarcomeres and a significant minority by mutations in non-sarcomeric proteins and transthyretin proteins. It is important to identify the associations between genotype and phenotype to guide clinical diagnosis and treatment. Here, we have summarized the reported index cases with RCM involving genetic etiology to date and highlighted the most significant phenotype results.

restrictive cardiomyopathy
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