Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …

There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …

The fundamental basis of muscle contraction 'the sliding filament model'(;) and the 'swinging,
tilting crossbridge-sliding filament mechanism'(;) nucleated a field of research that has …

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder,
affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have …

Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for
30%–40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic …

Background International guidelines for variant interpretation in Mendelian disease set
stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive …

Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by
restrictive left ventricular pathophysiology, ie a rapid rise in ventricular pressure with only …

Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique,
supported by 30 years of research into its genetic etiology. Although pathogenic variants are …

With the development and advancement of next-generation sequencing (NGS), genetic
analysis is becoming more accessible. High-throughput genetic studies using NGS have …

Cardiac contraction depends on molecular interactions among sarcomeric proteins
coordinated by the rising and falling intracellular Ca2+ levels. Cardiac thin filament (cTF) …