Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock
Abstract
Rapid genetic diagnosis has the potential to guide clinical treatment in critically ill patients leading to improved prognosis and decreased health care costs. 1 Until recently, the turnaround time for whole genome diagnostic testing precluded its integration into critical care decision making (typical rapid whole genome sequencing clinical testing returns results in 5–7 days). Here, we describe a case of a teenager presenting with cardiogenic shock in whom a genetic diagnosis was made in under 12 hours using a new ultra-rapid long read whole genome sequencing assay and workflow. 2, 3 A 13-year-old male previously in good health presented to his primary care provider with a nocturnal dry cough, decreased appetite, intermittent chest pain, and fatigue. Thoracic radiographs showed cardiomegaly leading to echocardiography, which revealed a dilated left ventricle with an ejection fraction of 29%.
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