Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.

Urgent rWES for isolated pediatric cardiomyopathy or myocarditis → impact on immediate management

9 pediatric patients in acute heart failure from isolated cardiomyopathy or myocarditis underwent rapid exome sequencing (median turnaround 9 days). Diagnostic yield was 55.5% (5/9), mostly dominant disorders (ACTC1, MYBPC3, TNNI3, NKX2-5) with 2 de novo variants. In 3 rapidly deteriorating patients, exome results had a major impact on immediate management. Diagnosis avoided unnecessary additional workup in most patients.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Despite the small cohort (9 patients), the 55.5% yield and impact on emergency management perfectly illustrate the value of rWES in acute pediatric cardiology. These data contribute to a growing body of evidence supporting rapid sequencing as a first-line tool in pediatric intensive care — including cardiomyopathies, often overlooked in rWES protocols.

Clinical impact: 3/3 · Evidence strength: 1/3 · Novelty: 1/2 · Sample size: 0/1 · Publication status: 0/1 → Total: 5/10