Laboratory diagnosis plays one of the key roles in the diagnosis of many diseases, including
cardiovascular diseases (CVD). The methods underlying the in vitro study of many CVD …

In 1956, Blankerhorn and Gall (1) proposed the term myocarditis for inflammatory heart
muscle disease, and myocardiosis for other heart muscle diseases. A year thereafter …

Kardiomiopatie definiuje się jako strukturalne oraz funkcjonalne nieprawidłowości mięśnia
komór, które nie wynikają z niedokrwienia na skutek choroby wieńcowej czy …

Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …

Background The genetic basis of familial hypertrophic cardiomyopathy (HCM) is well
described, but the relation between genotype and clinical phenotype is still poorly …

Background Hypertrophic cardiomyopathy (HCM) is the most common genetic
cardiovascular disease, which goes along with increased risk for sudden cardiac death …

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

Over the past 2 decades, investigators in the field of cardiac genetics have evolved a
complex understanding of the pathophysiological basis of inherited cardiac diseases, which …

Background: Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic
phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament …