Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study
Background: Dilated Cardiomyopathy (DCM) is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF) less than 40%. Our st...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-01-01
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| Series: | Journal of the Practice of Cardiovascular Sciences |
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| Online Access: | http://www.j-pcs.org/article.asp?issn=2395-5414;year=2015;volume=1;issue=1;spage=30;epage=34;aulast=Das |
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| author | Soumi Das Amitabh Biswas Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi R Rao |
| author_facet | Soumi Das Amitabh Biswas Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi R Rao |
| author_sort | Soumi Das |
| collection | DOAJ |
| description | Background: Dilated Cardiomyopathy (DCM) is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF) less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF) ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF). Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C) and a rare variant MYH7 (c.2769 C>T) in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future. |
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| format | Article |
| id | doaj.art-799e9f65e3094e4e863a9b84ee5c7780 |
| institution | Directory Open Access Journal |
| issn | 2395-5414 2454-2830 |
| language | English |
| last_indexed | 2024-12-20T09:18:59Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of the Practice of Cardiovascular Sciences |
| spelling | doaj.art-799e9f65e3094e4e863a9b84ee5c77802022-12-21T19:45:21ZengWolters Kluwer Medknow PublicationsJournal of the Practice of Cardiovascular Sciences2395-54142454-28302015-01-0111303410.4103/2395-5414.157562Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D studySoumi DasAmitabh BiswasMitali KapoorSandeep SethBalram BhargavaVadlamudi R RaoBackground: Dilated Cardiomyopathy (DCM) is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF) less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF) ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF). Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C) and a rare variant MYH7 (c.2769 C>T) in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.http://www.j-pcs.org/article.asp?issn=2395-5414;year=2015;volume=1;issue=1;spage=30;epage=34;aulast=DasDilated cardiomyopathyepidemiologyIndiagenetics |
| spellingShingle | Soumi Das Amitabh Biswas Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi R Rao Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study Journal of the Practice of Cardiovascular Sciences Dilated cardiomyopathy epidemiology India genetics |
| title | Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study |
| title_full | Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study |
| title_fullStr | Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study |
| title_full_unstemmed | Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study |
| title_short | Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study |
| title_sort | epidemiology of cardiomyopathy a clinical and genetic study of dilated cardiomyopathy the epoch d study |
| topic | Dilated cardiomyopathy epidemiology India genetics |
| url | http://www.j-pcs.org/article.asp?issn=2395-5414;year=2015;volume=1;issue=1;spage=30;epage=34;aulast=Das |
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