Why the study?
The genetic cause of infantile-onset cardiomyopathy is rarely investigated.
Does whole exome and mitochondrial DNA sequencing identify genetic variants in patients with infantile-onset cardiomyopathy?
Design
Case series
Key result
Whole exome and mitochondrial DNA sequencing identified genetic variants in 100% (8 of 8) of patients with infantile-onset cardiomyopathy, including 4 pathogenic or likely-pathogenic variants.
Authors
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May support genetic evaluation in infantile cardiomyopathy; leaves open routine adoption without larger validation.
Observational (n=8)
Does whole exome and mitochondrial DNA sequencing identify genetic variants in patients with infantile-onset cardiomyopathy?
Whole exome and mitochondrial DNA sequencing can identify genetic variants in a high proportion of patients with infantile-onset cardiomyopathy.
Park et al. (2021) conducted an observational in Infantile-onset cardiomyopathy (n=8). Whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing was evaluated on Identification of genetic variations. Whole exome and mitochondrial DNA sequencing identified genetic variants in 100% (8 of 8) of patients with infantile-onset cardiomyopathy, including 4 pathogenic or likely-pathogenic variants.