Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

ABSTRACT:

Background

Hereditary cardiovascular diseases comprise several different entities. In this study, we focused on cardiomyopathies (i.e., hypertrophic, dilated, arrhythmogenic, and left ventricular non-compaction), channelopathies (i.e., Brugada syndrome and long QT syndrome), and aortopathies and pulmonary arterial hypertension (i.e., thoracic/abdominal aortic aneurysm and pulmonary arterial hypertension), and genetically characterized 200 Italian patients affected by these diseases.

Methods

We employed whole-exome sequencing (WES), focused on four in silico gene panels, and the MLPA method for hypertrophic and arrhythmogenic right ventricular cardiomyopathy cases.

Results

Cardiomyopathies affected 87.5% of analyzed patients, channelopathies 7%, and aortopathies and pu

SUBMITTER: Lenarduzzi S 

PROVIDER: S-EPMC10178800 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature