Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Hypertrophic obstructive cardiomyopathy is an inherited myocardial disease defined by
cardiac hypertrophy (wall thickness≥ 15 mm) that is not explained by abnormal loading …

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

Aims Increased left ventricular wall thickness (LVWT) is a common finding in cardiology. It is
not known how often hereditary transthyretin-related familial amyloid cardiomyopathy (mTTR …

The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key
structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

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

Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

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

Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading
indication for heart transplantation. DCM is often familial, and the most common genetic …