Vanessa Connell

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

BACKGROUND Sudden cardiac death among children and young adults is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death among children and young adults. METHODS We prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012. In cases that had no cause identified after a comprehensive autopsy that included toxicologic and histologic studies (unexplained sudden cardiac death), at least 59 cardiac genes were analyzed for a clinically relevant cardiac gene mutation. RESULTS A total of 490 cases of sudden cardiac death were identified. The annual incidence was 1.3 cases per 100,000 persons 1 to 35 years of age; 72% of the cases involved boys or young men. Persons 31 to 35 years of age had the highest incidence of sudden cardiac death (3.2 cases per 100,000 persons per year), and persons 16 to 20 years of age had the highest incidence of unexplained sudden cardiac death (0.8 cases per 100,000 persons per year). The most common explained causes of sudden cardiac death were coronary artery disease (24% of cases) and inherited cardiomyopathies (16% of cases). Unexplained sudden cardiac death (40% of cases) was the predominant finding among persons in all age groups, except for those 31 to 35 years of age, for whom coronary artery disease was the most common finding. Younger age and death at night were independently associated with unexplained sudden cardiac death as compared with explained sudden cardiac death. A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic testing was performed. During follow-up, a clinical diagnosis of an inherited cardiovascular disease was identified in 13% of the families in which an unexplained sudden cardiac death occurred. CONCLUSIONS The addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults. (Funded by the National Health and Medical Research Council of Australia and others.).

Adolescents with implantable cardioverter defibrillators: a patient and parent perspective.

Background:  An implantable cardioverter defibrillator (ICD) is a device used in the treatment of individuals with life‐threatening cardiac conditions. These include genetic disorders such as long QT syndrome, hypertrophic cardiomyopathy, and Brugada syndrome, all of which have the propensity to cause sudden cardiac death. Adults with ICDs consistently report elevated levels of anxiety and depression, as well as negative lifestyle changes associated with the device. Compared to older ICD recipients, young patients face decades of life with the device and the long‐term impact and implications are important to consider. This research explores the experiences of adolescents living with an ICD. Parents of these adolescents were also included to explore the impact on them as the primary caregivers.

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia.

a Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia b Sydney Medical School, University of Sydney, Sydney, Australia c Royal Childrens Hospital, Melbourne, Victoria, Australia d Genetic Health Queensland, Royal Brisbane & Womens Hospital, Brisbane, Queensland, Australia e The Heart Centre for Children, The Childrens Hospital, Westmead, Sydney, NSW, Australia f Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study

Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS.