Sep 19, 2019

Clinical utility of exome sequencing in infantile heart failure

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Alyssa RitterRebecca C Ahrens-Nicklas


Pediatric cardiomyopathy is rare, has a broad differential diagnosis, results in high morbidity and mortality, and has suboptimal diagnostic yield using next-generation sequencing panels. Exome sequencing has reported diagnostic yields ranging from 30% to 57% for neonates in intensive care units. We aimed to characterize the clinical utility of exome sequencing in infantile heart failure. Infants diagnosed with acute heart failure prior to 1 year old over a period of 34 months at a large tertiary children's hospital were recruited. Demographic and diagnostic information was obtained from medical records. Fifteen eligible patients were enrolled. Dilated cardiomyopathy was the predominant cardiac diagnosis, seen in 60% of patients. A molecular diagnosis was identified in 66.7% of patients (10/15). Of those diagnoses, 70% would not have been detected using multigene next-generation sequencing panels focused on cardiomyopathy or arrhythmia disease genes. Genetic testing changed medical decision-making in 53% of all cases and 80% of positive cases, and was especially beneficial when testing was expedited. Given the broad differential diagnosis and critical status of infants with heart failure, rapid exome sequencing provides timely ...Continue Reading

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Mentioned in this Paper

Hospitals, Pediatric
Laboratory Procedures
Decision Making
Medication Management
Procedure on Heart
Whole Exome Sequencing
Intensive Care Unit
Massively-Parallel Sequencing

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