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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ebstein anomaly
Comorbidity C1960469|left ventricular noncompaction
Sentences 3
PubMedID- 23794396 ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in myh7.
PubMedID- 20813287 ebstein's anomaly with left ventricular noncompaction and bicuspid aortic valve.
PubMedID- 21127202 An association between ebstein anomaly with left ventricular noncompaction (lvnc) and mutations in myh7 encoding beta-myosin heavy chain has been shown; in this report, we have screened for myh7 mutations in a cohort of probands with ebstein anomaly in a large population-based study.

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