ABSTRACT
A number of inherited cardiac diseases, such as Long QT syndrome (LQT) and hypertrophic cardiomyopathy (HCM), confer an increased risk of sudden arrhythmicdeath (or sudden cardiac death, also known as SCD). In many cases this increased risk is life long, although often peaking in the adolescent and young adult years. It is anticipated that HCM affects one in 500 of the population. LQT syndrome is less common than HCM, affecting one in 5,000 to 10,000 adolescents. A greater understanding of the molecular basis of these conditions has allowed the development of predictive genetic tests. Establishing an individual’s genetic status can have a number of benefits, such as early treatment if they are a gene carrier, or discharge from further follow-up, if found not to carry the mutant gene. However deciding whether to have a genetic test is not always a straightforward decision, for a number of reasons and this can lead to disagreement between different family members about the best way to proceed Such situations are further complicated when the children are adolescents who are not emerged fully from childhood and yet have not attained the adult status that allows them to make decisions on their own behalf. Disagreement between parent and child questions the scope of a parent’s responsibility and obligations and how these relate to the rights of a child, both legally and ethically. It also raises issues for practice as to whether a genetic test is indicated and where the duty of the clinician or genetic counsellor should lie when there is disagreement in the family.
