Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS.
Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
タイトル
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
