Paediatric evaluation for inherited conditions: how do we investigate?

摘要

The importance of cardiological evaluation of families following sudden unexplained death (SUD) or diagnosis of an inherited cardiac condition (ICC) has been long established. The additional value of genetic testing, in the context of a likely ICC, is also recognized. Tomaske et al. report on their experience of paediatric investigation for ICCs. Their study cohort consists of a heterogeneous population referred consecutively to a tertiary centre over a 5-year period. Paediatric blood relatives with known familial ICC or SUD were included. The authors devised an inves-tigational protocol, with an electrocardiogram (ECG), 24 h Holter monitoring, and echocardiogram in the first instance, followed by signal-averaged ECG, an event recorder, and cardiac magnetic resonance imaging as required. Mutation analysis followed upon the demonstration of a cardiac channelopathy phenotype. This offers an opportunity to compare diagnostic yields in evaluation focused on paediatric subjects with that of previously reported predominantly adult groups.