Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.

Autor:	Mehaney DA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Next Generation Sequencing Laboratory, Cairo University Children Hospital, Egypt., Haghighi A; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA., Embaby AK; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Zeyada RA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Darwish RK; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Next Generation Sequencing Laboratory, Cairo University Children Hospital, Egypt., Elfeel NS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Abouelhoda M; Systems and Biomedical Engineering Department, Faculty of Engineering, Cairo University, Cairo, Egypt., El-Saiedi SA; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Gohar NA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Seliem ZS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Jazyk:	angličtina
Zdroj:	Cardiology in the young [Cardiol Young] 2022 Feb; Vol. 32 (2), pp. 295-300. Date of Electronic Publication: 2021 May 26.
DOI:	10.1017/S1047951121002055
Abstrakt:	Background: Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy. Aim: The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children. Methods: This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing. Results: Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients. Conclusions: The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.
Databáze:	MEDLINE
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