Key result
Pathogenic sarcomeric and non-sarcomeric mutations are linked to familial restrictive cardiomyopathy and severe diastolic dysfunction.
Why the study?
Identifying genotype-phenotype associations in restrictive cardiomyopathy is important to guide clinical diagnosis and treatment given the poor prognosis and high risk of sudden cardiac death.
This review summarizes the genotype-phenotype associations in familial restrictive cardiomyopathy, highlighting the central role of sarcomeric and non-sarcomeric gene mutations in disease presentation and prognosis.
May guide genetic evaluation in suspected familial cases; leaves open prospective validation of genotype-phenotype links.
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.
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Yang et al. (2022) conducted a review in Restrictive Cardiomyopathy. Pathogenic genetic mutations was evaluated. Pathogenic mutations in sarcomeric and non-sarcomeric genes are associated with the development of familial restrictive cardiomyopathy, leading to severe diastolic dysfunction and varying clinical phenotypes.
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