Sudden Cardiac Death in Young Athletes

Sudden cardiovascular death in young athletes is a rare event. However, when it does occur, it is devastating. An understanding of potentially worrisome history and physical examination elements, including symptoms of syncope, near syncope, dizziness, or shortness of breath with exercise, is important in the determination of risk for potentially lethal anatomical and functional cardiac defects. In active children and adolescents, HCM is the most common cardiac condition causing sudden death. Most often, HCM is clinically silent. The best tool for diagnosing HCM is 2-dimensional echocardiography. However, the use of this as a screening tool is prohibitively expensive. Any child presenting to the ED with exertional chest pain, syncope, near syncope, and/or shortness of breath should be evaluated further to rule out cardiac conditions as the cause.     

Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy

Post-mortem investigation of sudden death in young people frequently reveals no overt cause for the death. Full investigation is hampered if tissue or blood is not retained for DNA analysis. We report a post mortem molecular diagnosis of long QT syndrome in a 12-year-old boy diagnosed with epilepsy who died suddenly playing sport. The DNA was extracted from an archived blood spot on his newborn screening ('Guthrie') card, which had been taken from him at 6 days of age. A missense mutation was detected in exon 5 of the KCNQ1 gene; R243C (835C > T), associated with long QT type 1. The same mutation was found in the mother (who now takes effective preventative therapy), but not in the sib who has now been reassured that she is not at risk of sudden death.     

Sudden Death in Childhood Due to Right Ventricular Dysplasia: Report of Two Cases

Two cases of sudden death due to arrhythmogenic right ventricular dysplasia (ARVD) occurring in the pediatric age group are described. One of the subjects, at the age of 7 years, is believed to be the youngest child in whom ARVD has been diagnosed at autopsy. The clinical and pathological characteristics of ARVD are discussed.