Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases
Abstract Background Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although different mechanisms underlie the various types of cardiomyopathies, a pr...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-02-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12920-019-0478-7 |
| _version_ | 1818443608035950592 |
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| author | Marwan M. Refaat Sylvana Hassanieh Jad A. Ballout Patrick Zakka Mostafa Hotait Athar Khalil Fadi Bitar Mariam Arabi Samir Arnaout Hadi Skouri Antoine Abchee Bernard Abi-Saleh Maurice Khoury Andreas Massouras Georges Nemer |
| author_facet | Marwan M. Refaat Sylvana Hassanieh Jad A. Ballout Patrick Zakka Mostafa Hotait Athar Khalil Fadi Bitar Mariam Arabi Samir Arnaout Hadi Skouri Antoine Abchee Bernard Abi-Saleh Maurice Khoury Andreas Massouras Georges Nemer |
| author_sort | Marwan M. Refaat |
| collection | DOAJ |
| description | Abstract Background Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although different mechanisms underlie the various types of cardiomyopathies, a principal pathology is common to all and is usually at the level of the cardiac muscle. With a relatively high incidence rate in most countries, and a subsequent major health burden on both the families and governments, cardiomyopathies are gaining more attention by researchers and pharmaceutical companies as well as health government bodies. In Lebanon, there is no official data about the spectrum of the diseases in terms of their respective prevalence, clinical, or genetic profiles. Methods We used exome sequencing to unravel the genetic basis of idiopathic cases of cardiomyopathies in Lebanon, a relatively small country with high rates of consanguineous marriages. Results Five cases were diagnosed with different forms of cardiomyopathies, and exome sequencing revealed the presence of already documented or novel mutations in known genes in three cases: LMNA for an Emery Dreifuss Muscular Dystrophy case, PKP2 for an arrhythmogenic right ventricle dysplasia case, and MYPN for a dilated cardiomyopathy case. Interestingly two brothers with hypertrophic cardiomyopathy have a novel missense variation in NPR1, the gene encoding the natriuretic peptides receptor type I, not reported previously to be causing cardiomyopathies. Conclusion Our results unravel novel mutations in known genes implicated in cardiomyopathies in Lebanon. Changes in clinical management however, require genetic profiling of a larger cohort of patients. |
| first_indexed | 2024-12-14T19:02:44Z |
| format | Article |
| id | doaj.art-714bffd2095d4d429574eb50cab5284a |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-14T19:02:44Z |
| publishDate | 2019-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-714bffd2095d4d429574eb50cab5284a2022-12-21T22:50:55ZengBMCBMC Medical Genomics1755-87942019-02-0112111110.1186/s12920-019-0478-7Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic casesMarwan M. Refaat0Sylvana Hassanieh1Jad A. Ballout2Patrick Zakka3Mostafa Hotait4Athar Khalil5Fadi Bitar6Mariam Arabi7Samir Arnaout8Hadi Skouri9Antoine Abchee10Bernard Abi-Saleh11Maurice Khoury12Andreas Massouras13Georges Nemer14Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Pediatrics and Adolescent Medicine, American University of BeirutDepartment of Pediatrics and Adolescent Medicine, American University of BeirutDepartment of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Department of Internal Medicine, Cardiology Division, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Saphetor S.A.Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center (AUBMC)Abstract Background Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although different mechanisms underlie the various types of cardiomyopathies, a principal pathology is common to all and is usually at the level of the cardiac muscle. With a relatively high incidence rate in most countries, and a subsequent major health burden on both the families and governments, cardiomyopathies are gaining more attention by researchers and pharmaceutical companies as well as health government bodies. In Lebanon, there is no official data about the spectrum of the diseases in terms of their respective prevalence, clinical, or genetic profiles. Methods We used exome sequencing to unravel the genetic basis of idiopathic cases of cardiomyopathies in Lebanon, a relatively small country with high rates of consanguineous marriages. Results Five cases were diagnosed with different forms of cardiomyopathies, and exome sequencing revealed the presence of already documented or novel mutations in known genes in three cases: LMNA for an Emery Dreifuss Muscular Dystrophy case, PKP2 for an arrhythmogenic right ventricle dysplasia case, and MYPN for a dilated cardiomyopathy case. Interestingly two brothers with hypertrophic cardiomyopathy have a novel missense variation in NPR1, the gene encoding the natriuretic peptides receptor type I, not reported previously to be causing cardiomyopathies. Conclusion Our results unravel novel mutations in known genes implicated in cardiomyopathies in Lebanon. Changes in clinical management however, require genetic profiling of a larger cohort of patients.http://link.springer.com/article/10.1186/s12920-019-0478-7CardiomyopathyGeneticsWhole exome sequencingNatriuretic peptide receptor |
| spellingShingle | Marwan M. Refaat Sylvana Hassanieh Jad A. Ballout Patrick Zakka Mostafa Hotait Athar Khalil Fadi Bitar Mariam Arabi Samir Arnaout Hadi Skouri Antoine Abchee Bernard Abi-Saleh Maurice Khoury Andreas Massouras Georges Nemer Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases BMC Medical Genomics Cardiomyopathy Genetics Whole exome sequencing Natriuretic peptide receptor |
| title | Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases |
| title_full | Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases |
| title_fullStr | Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases |
| title_full_unstemmed | Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases |
| title_short | Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases |
| title_sort | non familial cardiomyopathies in lebanon exome sequencing results for five idiopathic cases |
| topic | Cardiomyopathy Genetics Whole exome sequencing Natriuretic peptide receptor |
| url | http://link.springer.com/article/10.1186/s12920-019-0478-7 |
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