Key result
Mutations in the sarcomere protein gene MYH7 are associated with a specific subtype of Ebstein's anomaly that includes left ventricular noncompaction and follows an autosomal dominant inheritance.
Identification of MYH7 mutations in patients with Ebstein's anomaly and LVNC suggests a genetic subtype, emphasizing the need for clinical evaluation for LVNC and subsequent genetic counseling.
May inform targeted genetic counseling in Ebstein's anomaly with LVNC; leaves open broader screening utility pending prospective validation.
Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β-myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members.
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Engelen et al. (2011) conducted a review in Ebstein's anomaly and left ventricular noncompaction. MYH7 mutations was evaluated. Mutations in the sarcomere protein gene MYH7 are associated with a specific subtype of Ebstein's anomaly that includes left ventricular noncompaction and follows an autosomal dominant inheritance.
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