The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.

Background: Brugada Syndrome (BrS) is an inherited arrhythmia syndrome in which mutations in the cardiac sodium channel (Na1.5) account for approximately 20% of cases. Mutations in sodium channel-modifying genes may account for additional BrS cases, though BrS may be polygenic given common SNPs associated with BrS have been identified.

Health Outcomes Associated With Clinician-initiated Delivery for Hypertensive Disorders at 34-38 Weeks' Gestation.

Background: Clinicians caring for the nearly 10% of patients in the United States with nonsevere hypertensive disorders in late pregnancy need better evidence to balance risks and benefits of clinician-initiated delivery.

Methods: We conducted a record-based cohort study of maternal and infant health outcomes among deliveries from 2002-2013 at Women & Infants Hospital of Rhode Island. Participants had gestational hypertension or nonsevere preeclampsia before 39 weeks' gestation (N=4,295).

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.

Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls.

IDENTIFYING NEW SUDDEN DEATH GENES.

Inherited conditions that lead to cardiac arrhythmias and sudden cardiac death remain an important cause of morbidity and mortality. Identifying the genes responsible for these rare conditions can provide insights into the more common and heritable forms of sudden cardiac death seen in patients with structural heart disease. We and others have used candidate gene approaches and positional cloning in large families to show that mutations in ion channels and ion channel related proteins cause familial arrhythmia syndromes including long QT and Brugada syndromes.