Why the study?
Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children, but its genetic aetiology remains poorly characterised.
What is the genetic background of cardiomyopathy in Egyptian children using targeted next-generation sequencing?
Population
68 Egyptian children with cardiomyopathy (58 dilated and 10 left ventricular noncompaction cardiomyopathy)
Design
Hospital-based study
Loading...
Low detection rate with targeted NGS warrants caution in Egyptian children with cardiomyopathy; leaves open genome-wide testing for novel genes in consanguineous populations.
What is the genetic background of cardiomyopathy in Egyptian children using targeted next-generation sequencing?
Targeted next-generation sequencing yielded a low genetic detection rate (2.9%) in Egyptian children with cardiomyopathy, suggesting the need for genome-wide testing to identify novel genes in this highly consanguineous population.
A 2021 study studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: