5th International Conference on Heart and Cardiovascular Diseases

Genetic cardiovascular disorders including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, familial hypercholesterolaemia, and inherited channelopathies collectively affect millions of individuals worldwide, often manifesting in young adults with sudden cardiac death as the first presentation. The Cardiac Genetics & Inherited Cardiovascular Disorders session examines next-generation sequencing panel applications in clinical cardiac genetics, variant classification frameworks and the challenge of variants of uncertain significance (VUS), cascade family screening protocols, genotype-phenotype correlations guiding device therapy decisions in arrhythmogenic cardiomyopathy and HCM, and the rapid emergence of gene editing and RNA-targeted therapies as disease-modifying strategies in inherited cardiac conditions.

Key Discussion Areas:

• Next-generation sequencing in inherited cardiomyopathy and channelopathy diagnosis
• Variants of uncertain significance (VUS): classification and clinical management
• Cascade family screening in hypertrophic and dilated cardiomyopathy
• Arrhythmogenic cardiomyopathy: genotype-phenotype correlations and SCD risk
• Familial hypercholesterolaemia: genetic diagnosis and cascade screening
• Cardiac gene therapy: AAV, base editing, and RNA interference approaches
• Polygenic risk scores in cardiovascular disease: clinical utility and limitations
• Genetic counselling frameworks in inherited cardiovascular disease

Why Attend This Session?

Cardiologists, clinical geneticists, genetic counsellors, electrophysiologists, and paediatric cardiologists will gain practical frameworks for integrating genomic testing into cardiovascular clinical practice, interpreting genetic results, managing affected families, and understanding the rapidly emerging landscape of gene-based therapeutics.

Related Topics:

• Heart Failure & Cardiomyopathies
• Electrophysiology & Arrhythmia Management
• Preventive Cardiology
• Paediatric Cardiology & Congenital Heart Disease
• AI in Cardiology

Frequently Asked Questions:

1.When should genetic testing be offered in cardiomyopathy?

Genetic testing is recommended in all patients with hypertrophic, dilated, arrhythmogenic, or restrictive cardiomyopathy and their first-degree relatives, as identifying a pathogenic variant enables cascade screening, informs prognosis, guides device therapy decisions, and increasingly identifies candidates for targeted gene-based therapies.

2.What is the clinical significance of a variant of uncertain significance (VUS) in cardiac genetics?

A VUS is a genetic variant whose pathogenicity cannot be confirmed or excluded with current evidence. In cardiac genetics, VUS findings require careful communication to avoid unnecessary anxiety or over-medicalisation. Families should be followed longitudinally as variant reclassification occurs regularly with accumulating population data.