Rapid exome sequencing had a diagnostic yield of 55.5% and significantly impacted medical management in 33.3% of pediatric patients with acute heart failure and cardiomyopathy.
Does rapid exome sequencing improve clinical management and diagnostic yield in pediatric patients with acute heart failure and isolated cardiomyopathy or myocarditis?
Rapid exome sequencing in pediatric patients with acute heart failure and isolated cardiomyopathy provides a high diagnostic yield and significantly impacts immediate clinical management, including the avoidance of unnecessary investigations.
Tasa de eventos absoluta: 0% vs 0%
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center. A total of nine patients were included; age range: 5 days–11 years (median 42 days). Eight patients (88.8%) presented in the first year of life. The turnaround time for the ES results was 5–14 days (median 9 days). The diagnostic yield was 5/9 (55.5%), confirming primary cardiomyopathy. The majority had dominant disorders ( ACTC1, MYBCP3, TNNI3 , and NKX2‐5 ), with two (22.2%) occurring de novo. One patient had a recessive condition ( MYBPC3) . In three patients (33.3%) who rapidly deteriorated during hospitalization, ES results had a major impact on immediate medical management. In most patients, the diagnosis led to the avoidance of further metabolic workup, cardiac magnetic imaging and vitamin treatment. In two families with no prior history of cardiomyopathy, at‐risk relatives were advised to initiate cardiac surveillance. Overall the results show high clinical impact due to a shorter time to diagnosis, a high diagnostic yield, an improved therapeutic approach, in addition to the facilitation of genetic counseling for family planning and cascade testing of relatives at risk.
Moady et al. (Thu,) reported a other. Rapid exome sequencing had a diagnostic yield of 55.5% and significantly impacted medical management in 33.3% of pediatric patients with acute heart failure and cardiomyopathy.