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1 Introduction Dilated cardiomyopathy (DCM) is defined as left ventricular dilatation and contractile hypokinesia. When diagnosed in childhood, DCM is a rare disease with an estimated prevalence of one in 100,000 living children (Ware 2018). It is a leading cause of childhood heart failure, frequently requiring cardiac transplantation, with a cumulative incidence of sudden cardiac death at 15 years of 5% (Bharucha et al. 2015).
Abstract Observing phenotyping practices from an international cohort of 1,686 cases revealed heterogeneity of phenotype reporting among clinicians. Heterogeneity limited their exploitation for diagnosis as only 43% of symptom-gene associations in the cohort were available in public databases. We developed a symptom interaction model that summarized 16,600 terms into 390 groups of interacting symptoms and detected 3,222,053 novel symptom-gene associations.
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