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

Cardiomyopathies are among the major triggers of heart failure, but their clinical and genetic
complexity have hampered our understanding of these disorders and delayed the …

Background Cardiomyopathy is a clinically and genetically heterogeneous heart condition
that can lead to heart failure and sudden cardiac death in childhood. While it has a strong …

Background Cardiovascular disease continues to be the leading cause of death globally.
Clinical practice guidelines aimed at improving disease management and positively …

With the advent of next-generation whole genome sequencing, many variants of uncertain
significance (VUS) have been identified in individuals suffering from inheritable hypertrophic …

Advances in the field of human genetics have led to an accumulating understanding of the
genetic basis of distinct nonischemic cardiomyopathies associated with ventricular …

Aims During the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF),
next-generation sequencing panels can be considered to identify genotypes associated with …

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease
associated with morbidity and mortality at any age. As studies in recent decades have …

It was previously suggested that increasing the number of genes on diagnostic gene panels
could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored …

Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-
function (GOF) mutations result in an inborn error of immunity characterized by chronic …