Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Purpose: Copy-number variant (CNV) analysis is increasingly performed in genetic diagnostics. We leveraged recent gene curation efforts and technical standards for interpretation and reporting of CNVs to characterize clinically relevant CNVs in patients with inherited heart disease and sudden cardiac death.

Methods: Exome sequencing data were analyzed for CNVs using eXome-Hidden Markov Model tool in 48 established disease genes.

Detection of sudden death syndromes in New Zealand.

Aim: To investigate regional variations in the detection of sudden death syndromes across New Zealand by assessing registrations in the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).

Methods: The CIDRNZ has been a national entity since 2009, with a hub in Auckland and locally funded regional coordinators (Midland, Central) linked with multidisciplinary cardiac genetic teams. Registration is consent-based and voluntary, and involves the collection of clinical/genetic information and permits genetic testing and research.

Pediatric & Congenital Electrophysiology Society: building an international paediatric electrophysiology organisation.

The Pediatric and Congenital Electrophysiology Society (PACES) is a non-profit organisation comprised of individuals dedicated to improving the care of children and young adults with cardiac rhythm disturbances. Although PACES is a predominantly North American-centric organisation, international members have been a part of PACES for the last two decades. This year, PACES expanded its North American framework into a broadly expansive international role.

Pediatric & Congenital Electrophysiology Society: building an international paediatric electrophysiology organisation.

The Pediatric and Congenital Electrophysiology Society (PACES) is a non-profit organisation comprised of individuals dedicated to improving the care of children and young adults with cardiac rhythm disturbances. Although PACES is a predominantly North American-centric organisation, international members have been a part of PACES for the last two decades. This year, PACES expanded its North American framework into a broadly expansive international role.

Computational cardiology and risk stratification for sudden cardiac death: one of the grand challenges for cardiology in the 21st century.

Risk stratification in the context of sudden cardiac death has been acknowledged as one of the major challenges facing cardiology for the past four decades. In recent years, the advent of high performance computing has facilitated organ-level simulation of the heart, meaning we can now examine the causes, mechanisms and impact of cardiac dysfunction in silico. As a result, computational cardiology, largely driven by the Physiome project, now stands at the threshold of clinical utility in regards to risk stratification and treatment of patients at risk of sudden cardiac death.

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.

End-of-life transitions among nursing home residents with cognitive issues.

Background: Health care transitions in the last months of life can be burdensome and potentially of limited clinical benefit for patients with advanced cognitive and functional impairment.

Methods: To examine health care transitions among Medicare decedents with advanced cognitive and functional impairment who were nursing home residents 120 days before death, we linked nationwide data from the Medicare Minimum Data Set and claims files from 2000 through 2007. We defined patterns of transition as burdensome if they occurred in the last 3 days of life, if there was a lack of continuity in nursing homes after hospitalization in the last 90 days of life, or if there were multiple hospitalizations in the last 90 days of life.

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.

Background: It is often reported that clinical symptoms are useful in differentiating cardiac from non-cardiac syncope. Studies in the young are rare. This study was designed to capture the symptoms and signs reported by patients with cardiac syncope before the patients or their attending clinicians knew the final diagnosis.

Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative.

Best-practice guidelines mandate a full postmortem examination in these deaths to identify genetic causes and allow potentially life-saving interventions in the victim's relatives.

Does retrograde diastolic flow in the descending aorta signify impaired systemic perfusion in preterm infants?

High-volume systemic-to-pulmonary ductal shunting occurs frequently in preterm infants and is indicated by diastolic flow reversal in the descending aorta (DAo). We studied the relationship between ductal diameter, diastolic DAo reversal, and left ventricular output (LVO); and superior vena caval (SVC) flow (upper body perfusion) and DAo flow (lower body perfusion) in preterm (<31 wk) infants. Echocardiographic assessments were performed at 5, 12, 24, and 48 h postnatal age (80 infants, median gestation 28 wk, 1060 g).

Digital implantable loop recorders in the investigation of syncope in children: benefits and limitations.

Background: Conventional diagnostic methods for detecting arrhythmogenic causes of syncope in children are poor. Digital implantable loop recorders are of proven value in adults.

Objectives: The purpose of this study was to evaluate digital implantable loop recorders in the investigation of syncope in children.