• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left
ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants …

Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder
characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of …

Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiomyopathy world-wide,
affecting approximately 1 in 500 individuals. Current therapeutic interventions comprise …

A polygenic risk score (PRS) is derived from a genome-wide association study and
represents an aggregate of thousands of single-nucleotide polymorphisms that provide a …

Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain
(myosin-7), has attracted considerable interest as a result of its fundamental functions in …

Transthyretin is a transport protein whose misfolding has been implicated in the
development of cardiac amyloidosis. Here, we examine the clinical correlates of …

Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic
loci involved. The application of advanced molecular tools, such as Next Generation …