Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations
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 youn...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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IMR Press
2022-05-01
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| Series: | Reviews in Cardiovascular Medicine |
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| Online Access: | https://www.imrpress.com/journal/RCM/23/6/10.31083/j.rcm2306185 |
| _version_ | 1811237498753384448 |
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| author | Zhe Yang Jia Chen Hong Li Yubi Lin |
| author_facet | Zhe Yang Jia Chen Hong Li Yubi Lin |
| author_sort | Zhe Yang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T12:24:32Z |
| format | Article |
| id | doaj.art-8b3bda047b554dd8aa114208769e24d4 |
| institution | Directory Open Access Journal |
| issn | 1530-6550 |
| language | English |
| last_indexed | 2024-04-12T12:24:32Z |
| publishDate | 2022-05-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Reviews in Cardiovascular Medicine |
| spelling | doaj.art-8b3bda047b554dd8aa114208769e24d42022-12-22T03:33:13ZengIMR PressReviews in Cardiovascular Medicine1530-65502022-05-0123618510.31083/j.rcm2306185S1530-6550(22)00533-6Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic MutationsZhe Yang0Jia Chen1Hong Li2Yubi Lin3The First Dongguan Affiliated Hospital, Guangdong Medical University, 523710 Dongguan, Guangdong, ChinaThe Second Department of Cardiology, The Second People's Hospital of Guangdong Province, 510310 Guangzhou, Guangdong, ChinaThe First Dongguan Affiliated Hospital, Guangdong Medical University, 523710 Dongguan, Guangdong, ChinaThe First Dongguan Affiliated Hospital, Guangdong Medical University, 523710 Dongguan, Guangdong, ChinaRestrictive 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.https://www.imrpress.com/journal/RCM/23/6/10.31083/j.rcm2306185restrictive cardiomyopathymutationssarcomeresphenotypegenotype |
| spellingShingle | Zhe Yang Jia Chen Hong Li Yubi Lin Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations Reviews in Cardiovascular Medicine restrictive cardiomyopathy mutations sarcomeres phenotype genotype |
| title | Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations |
| title_full | Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations |
| title_fullStr | Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations |
| title_full_unstemmed | Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations |
| title_short | Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations |
| title_sort | genotype phenotype associations with restrictive cardiomyopathy induced by pathogenic genetic mutations |
| topic | restrictive cardiomyopathy mutations sarcomeres phenotype genotype |
| url | https://www.imrpress.com/journal/RCM/23/6/10.31083/j.rcm2306185 |
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