Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

Epidemiology of Sudden Cardiac Death: Clinical and Research Implications

“…In the Minnesota study, there was a family history of sudden cardiac death in only 3 of 18 cases (17%) -indicating that family history may be a reliable predictor of clinical risk for only a minority of SUD cases in the general population. Similar to overall sudden cardiac death, SUD seems to be more common in males (mean age range 24-32 years), with published autopsy series reporting 63-68% of affected subjects as males (23,24). However, given the lower overall sudden cardiac death rates in females, SUD cases are likely to comprise a higher proportion of sudden cardiac death cases in women compared to men, particularly among younger adults.…”

“…Subjects with sudden unexplained death have also been termed as having idiopathic ventricular fibrillation or sudden arrhythmic death syndromes (6,9,10,15). It is possible that some proportion of these patients had heritable monogenic disorders such as the long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia (6,(20)(21)(22)(23)(24). Defects in the SCN5A gene, also causing long QT syndrome 3 and the Brugada syndrome, have been reported in some cases of the sudden infant death syndrome (25,26).…”

The role of genetic testing in unexplained sudden death

“…103 Inherited cardiac disease, mainly LQTS, was diagnosed in 22% of families although testing of the LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) did not contribute to any of the clinical diagnoses. A followup study of 57 families used more comprehensive clinical assessment and targeted genetic evaluation.…”

Preventing sudden cardiac death in the young: Is electrocardiogram screening the most effective means?

“…Myocarditis is implicated in the majority of autopsy series, and is usually clinically unsuspected. Previously unsuspected genetic arrhythmias such as congenital long QT syndrome (LQTS), Viewpoint catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome are causes that may account for as many as 40% of patients with a normal heart at autopsy (17)(18)(19). Although important, commotio cordis (nonpenetrating blunt trauma to the anterior thorax causing arrhythmia) is an acute event and will not be discussed further in the context of ECG screening (20).…”