Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

The Notch signaling pathway has a key role in shaping the developing heart. Guillermo Luxan et al. identify two human mutations in the gene encoding the Notch pathway protein MIB1 that cause a type of cardiomyopathy, left ventricular noncompaction. The authors show that mice lacking Mib1 in the myocardium have a similar type of cardiomyopathy and analyze how MIB1 deficiency leads to defective ventricular development.