Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder
characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac …

Background Type 3 long QT syndrome (LQT3) is the third most common form of LQT
syndrome and is characterized by QT-interval prolongation resulting from a gain-of-function …

Background Electrophysiological, imaging, and pathological studies have reported the
presence of subtle structural abnormalities in hearts from patients with Brugada syndrome …

Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is
necessary to periodically measure their strengths and weaknesses before transfer to …

Inherited cardiac conditions (ICCs) are characterised by marked genetic and allelic
heterogeneity and require extensive sequencing for genetic characterisation. We iteratively …

Blood group genotyping has many advantages over conventional phenotyping for both
blood donors and patients, and a number of high-throughput methods have now been …

A unique myocardial characteristic is its ability to grow/remodel in order to adapt; this is
determined partly by genes and partly by the environment and the milieu intérieur. In the …

Background Familial hypercholesterolaemia (FH) is a common Mendelian condition which,
untreated, results in premature coronary heart disease. An estimated 88% of FH cases are …

Purpose: Familial hypercholesterolemia is a common Mendelian disorder associated with
early-onset coronary heart disease that can be treated by cholesterol-lowering drugs. The …

Hypertrophic cardiomyopathy is a relatively frequent disease with a prevalence of 0.2%
worldwide and a remarkable genetic heterogeneity, with more than 30 causative genes …