Article
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Molecular diagnosis & therapy - 1 May 2021
Janin Alexandre, Januel Louis, Cazeneuve Cécile, Delinière Antoine, Chevalier Philippe, Millat Gilles
Abstract excerpt
BACKGROUND AND OBJECTIVE: Molecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical heterogeneity. We present a detailed molecular investigation of a cohort of 4185 patients with referrals for inherited cardiac diseases. METHODS: Patients suffering from cardiomyopathies (3235 probands), arrhythmia syndromes (760 probands), or unexplained sudden cardiac arrest...
Topics
- Arrhythmias, Cardiac
- Cardiomyopathies
- DNA Copy Number Variations
- Death, Sudden, Cardiac
- Genetic Predisposition to Disease
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation
- Pathology, Molecular