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

Area of Science:

• Genetics
• Pediatric Cardiology
• Medical Diagnostics

Background:

• Pediatric cardiomyopathy in acute heart failure is challenging to diagnose.
• Limited data exists on the impact of rapid exome sequencing (ES) in urgent pediatric settings.
• Early diagnosis is crucial for effective management and improved outcomes.

Purpose of the Study:

• To evaluate the impact of rapid singleton exome sequencing (ES) in pediatric patients with acute heart failure and cardiomyopathy or myocarditis.
• To assess the diagnostic yield and clinical utility of rapid ES in this cohort.
• To determine how rapid ES influences medical management and genetic counseling.

Main Methods:

• Retrospective analysis of nine pediatric patients with acute heart failure and cardiomyopathy/myocarditis.
• Utilized rapid singleton exome sequencing (ES) with a turnaround time of 5-14 days.
• Reviewed clinical data, diagnostic yield, and impact on patient management.

Main Results:

• A diagnostic yield of 55.5% (5/9 patients) was achieved, confirming primary cardiomyopathy.
• The majority of identified genetic disorders were dominant, with some occurring de novo.
• In 33.3% of patients, ES results directly influenced immediate medical management, avoiding unnecessary tests and treatments.
• Facilitated genetic counseling and cascade testing for at-risk relatives.

Conclusions:

• Rapid exome sequencing (ES) offers a high diagnostic yield and significant clinical impact in pediatric cardiomyopathy.
• Accelerated diagnosis through ES improves therapeutic approaches and facilitates genetic counseling.
• This approach is valuable for managing pediatric patients with acute heart failure and suspected genetic cardiomyopathy.