Background High throughput sequencing technologies have revolutionized the identification
of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM) …

Electrocardiography is an important method for evaluation and risk stratification of patients
with cardiac hypertrophy. We hypothesized that the recently developed transgenic mouse …

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition
assembles a group of experts to discuss the molecular basis and mechanisms of major …

Introduction In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric
hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric …

Introduction: Cardiomyopathies are disorders of the myocardium that can lead to heart
failure, arrhythmias and sudden death. Heritable forms include dilated, hypertrophic and …

Hypertrophic Cardiomyopathy (HCM) is the most common hereditary disease of the heart (1:
500 individuals), and a cause of sudden cardiac death in young adults and athletes. The …

Inherited cardiomyopathies are a clinically and genetically heterogeneous group of
disorders characterized by the disruption of normal structure and/or function of the …

In this issue of the Journal, Brito et al. present a very interesting work 1 based on data
extracted from the Portuguese Registry of Hypertrophic Cardiomyopathy. 2 Focusing on a …

Введение: Наследственные гиперфенилаланинемии, в том числе фенилкетонурия
(ФКУ)–генетически гетерогенные и генетически полиморфные ферментопатии …