An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, {KCNH2} and mitochondrial tRNA cysteine

摘要

Abstract We describe a young girl with dilated cardiomyopathy, long {QT} syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial {DNA} analysis that were interpreted as potentially causative. Changes were identified in the {KCNH2} gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of {WES} as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.