Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality
Objectives: This study aimed to diversify the spectrum of PRKAG2 variants and explore its clinical features in a Chinese Han population with hypertrophic cardiomyopathy (HCM). Methods: Whole-exome sequencing was performed on 200 patients diagnosed with HCM, and four causative PRKAG2 variants were id...
| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Wolters Kluwer Health/LWW
2021-01-01
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| coleção: | Cardiology Plus |
| Assuntos: | |
| Acesso em linha: | http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Li |
| _version_ | 1829456293927059456 |
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| author | Xue-Jie Li Nian-Wei Zhou Hui-Lin Xie Wen Liu Cui-Zhen Pan Xian-Hong Shu |
| author_facet | Xue-Jie Li Nian-Wei Zhou Hui-Lin Xie Wen Liu Cui-Zhen Pan Xian-Hong Shu |
| author_sort | Xue-Jie Li |
| collection | DOAJ |
| description | Objectives: This study aimed to diversify the spectrum of PRKAG2 variants and explore its clinical features in a Chinese Han population with hypertrophic cardiomyopathy (HCM). Methods: Whole-exome sequencing was performed on 200 patients diagnosed with HCM, and four causative PRKAG2 variants were identified in the probands and their relatives using Sanger sequencing. Their clinical manifestations, laboratory examinations, therapeutic methods, and outcomes were documented and analyzed. Results: Four variants were identified in six probands and seven of their relatives. Left ventricular hypertrophy was present in all probands. Five probands had sinus bradycardia, three had implanted pacemakers (PM), one developed heart failure, two had ventricular preexcitation, and one had atrial fibrillation. Conclusions: PRKAG2 cardiac syndrome (PCS) is a rare autosomal dominant disease characterized by ventricular hypertrophy, preexcitation, and progressive conduction defects, resulting in a high incidence of PM implantation. Genetic testing provides robust information for distinguishing PCS from sarcomeric HCM, which will be beneficial in guiding therapy and improving prognosis. |
| first_indexed | 2024-04-11T08:46:15Z |
| format | Article |
| id | doaj.art-3dc5f89ce25e4fb486a3bd67b51f23f1 |
| institution | Directory Open Access Journal |
| issn | 2470-7511 2470-752X |
| language | English |
| last_indexed | 2024-04-11T08:46:15Z |
| publishDate | 2021-01-01 |
| publisher | Wolters Kluwer Health/LWW |
| record_format | Article |
| series | Cardiology Plus |
| spelling | doaj.art-3dc5f89ce25e4fb486a3bd67b51f23f12022-12-22T04:33:58ZengWolters Kluwer Health/LWWCardiology Plus2470-75112470-752X2021-01-016213214010.4103/2470-7511.320319Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationalityXue-Jie LiNian-Wei ZhouHui-Lin XieWen LiuCui-Zhen PanXian-Hong ShuObjectives: This study aimed to diversify the spectrum of PRKAG2 variants and explore its clinical features in a Chinese Han population with hypertrophic cardiomyopathy (HCM). Methods: Whole-exome sequencing was performed on 200 patients diagnosed with HCM, and four causative PRKAG2 variants were identified in the probands and their relatives using Sanger sequencing. Their clinical manifestations, laboratory examinations, therapeutic methods, and outcomes were documented and analyzed. Results: Four variants were identified in six probands and seven of their relatives. Left ventricular hypertrophy was present in all probands. Five probands had sinus bradycardia, three had implanted pacemakers (PM), one developed heart failure, two had ventricular preexcitation, and one had atrial fibrillation. Conclusions: PRKAG2 cardiac syndrome (PCS) is a rare autosomal dominant disease characterized by ventricular hypertrophy, preexcitation, and progressive conduction defects, resulting in a high incidence of PM implantation. Genetic testing provides robust information for distinguishing PCS from sarcomeric HCM, which will be beneficial in guiding therapy and improving prognosis.http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Lihypertrophic cardiomyopathy; prkag2 protein; whole-exome sequencing |
| spellingShingle | Xue-Jie Li Nian-Wei Zhou Hui-Lin Xie Wen Liu Cui-Zhen Pan Xian-Hong Shu Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality Cardiology Plus hypertrophic cardiomyopathy; prkag2 protein; whole-exome sequencing |
| title | Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| title_full | Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| title_fullStr | Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| title_full_unstemmed | Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| title_short | Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| title_sort | differential diagnosis of prkag2 cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality |
| topic | hypertrophic cardiomyopathy; prkag2 protein; whole-exome sequencing |
| url | http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Li |
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