TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.

Aims: Atrial fibrillation (AF) is a common arrhythmia with an important heritable aspect. The genetic factors underlying AF have not been fully elucidated.

Methods And Results: We screened six candidate genes (CAV1, KCNJ2, KCNQ1, NKX2.

A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation.

Background: Atrial fibrillation (AF) is the most common arrhythmia, and a recent genome-wide association study identified the hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4) as a novel AF susceptibility locus. HCN4 encodes for the cardiac pacemaker channel, and HCN4 mutations are associated with familial sinus bradycardia and AF.

Objective: The purpose of this study was to determine whether novel variants in the coding region of HCN4 contribute to the susceptibility for AF.

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is a leading cause of heart failure and death. The etiology of DCM is genetically heterogeneous.

Objectives: We sought to define the prevalence of mutations in the RNA splicing protein RBM20 in a large cohort with DCM and to determine whether genetic variation in RBM20 is associated with clinical outcomes.

Elevation of parathyroid hormone levels in atrial fibrillation.

Objective: PTH influences atrial fibrillation (AF) risk factors and pathways involved in AF. We therefore sought to determine if PTH levels are altered in patients with AF.

Background: In addition to the traditional role of parathyroid hormone (PTH) as a regulator of calcium homeostasis, PTH also acts as a cardiac hormone, vasodilatory substance, and regulator of smooth muscle proliferation.