The clinical application of combined cardiac magnetic resonance phenotype and genotype in pediatric patients with suspected cardiomyopathy

Motivation: There are very limited data on the incremental value of combined CMR phenotype and genotype in pediatric patients with suspected cardiomyopathy. Goal(s): To evaluate the impact of CMR and genetic testing in clinical practice with respect to diagnostic rate improvement and prognostic value. Approach: 74 pediatric patients with suspected cardiomyopathy who underwent CMR and whole-exome sequencing (WES) were retrospectively enrolled in the study. Results: In patients with suspected cardiomyopathy, combined CMR and genetic testing increase diagnostic yield. Combined genetic variant positive and late gadolinium enhancement indicate a poor prognosis. Impact: Combined cardiac magnetic resonance phenotype and genotype increase the diagnostic yield and predict prognosis in pediatric patients with suspected cardiomyopathy. The study provide evidence about the use of CMR and genetic testing in children.