Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Abstract Purpose of Review The pace of identifying cardiomyopathy-associated mutations
and advances in our understanding of sarcomere function that underlies many …

Fundamentally, the heart needs to generate sufficient force and power output to dynamically
meet the needs of the body. Cardiomyocytes contain specialized structures referred to as …

Background: The complex genetics underlying human cardiac disease is evidenced by its
heterogenous manifestation, multigenic basis, and sporadic occurrence. These features …

Genetic variation in genes regulating metabolism may be advantageous in some settings
but not others. The non-failing adult heart relies heavily on fatty acids as a fuel substrate and …

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and a major indicator for
heart transplant. Human genetic studies have identified over a thousand causal mutations …

BACKGROUND: There is growing evidence that pathogenic mutations do not fully explain
hypertrophic (HCM) or dilated (DCM) cardiomyopathy phenotypes. We hypothesized that if a …

Heart failure is a highly heterogeneous disease, and genetic testing may allow phenotypic
distinctions that are incremental to those obtainable from imaging. Advances in genetic …

Обзор посвящен анализу вариабельности клинических проявлений неоднократно
зарегистрированного у пациентов с гипертрофической кардиомиопатией (ГКМП) …

Heart failure (HF) remains a major cause of mortality and morbidity worldwide.
Understanding the genetic basis of HF allows for the development of disease-modifying …