Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Hypertrophic cardiomyopathy (HCM) is the most common familial heart disease with vast
genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes …

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

Aim Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until
now technological limitations have hindered elucidation of the contribution of all clinically …

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

Abstract In 2008, The ESC Working Group on Myocardial and Pericardial Diseases
proposed an updated classification of cardiomyopathies based on morphological and …

Abstract Knowledge of “actionable” somatic genomic alterations present in each tumor (eg,
point mutations, small insertions/deletions, and copy-number alterations that direct …

Aims Routine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality
using Next-Generation Sequencing. Several studies have explored the relationship between …

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

Lynch syndrome (hereditary nonpolyposis colon cancer) and adenomatous polyposis
syndromes frequently have overlapping clinical features. Current approaches for molecular …