The sudden death of a parent or sibling is a great tragedy for a child, with many consequences. In the case of proven or suspected sudden cardiac death, one obvious question is whether the same disease is present in the child. There are many causes of sudden cardiac death, only some of which may present a risk to other family members. Identification of pre-symptomatic disease presents the opportunity for a risk assessment and preventative treatment. Confirmation of the absence of the same disease leads to appropriate reassurance.

In the event of sudden death there is a responsibility to offer assessment to other family members—in most cases first degree relatives. It is important to obtain an accurate and complete pedigree to identify individuals likely to benefit from screening. The best approach is to use a stepwise assessment and only to extend screening through the family if other key individuals are identified. It is not appropriate to start with distant relatives—it is common for parents to ask for their children to be screened when they have not been assessed themselves.

The assessment of the family depends fundamentally on the diagnosis of the cause of sudden death. An autopsy will usually provide confirmation of familial diseases such as hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and aortic rupture in Marfan syndrome, and will also identify non-familial abnormalities such as coronary artery malformations. In the past routine coroners’ autopsies were probably less reliable. The ideal is for the examination to be performed by a specialist cardiac pathologist with appropriate samples being taken for histological and genetic analysis. The autopsy will be unhelpful in primary electrical diagnoses such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome, etc.¹

HYPERTROPHIC CARDIOMYOPATHY

Hypertrophic cardiomyopathy is an important cause of sudden death in the young. …