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The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer heart defects. Mutations of the cardiac transcription factor  NKX2-5  cause cardiac malformations, including muscular VSDs. We describe here a genetic interaction between  Nkx2 - 5  and  Sarcospan (Sspn ) that affects the risk of muscular VSD in mice.  Sspn  encodes a protein in the dystrophin-glycoprotein complex.  Sspn  knockout ( Sspn  KO ) mice do not have heart defects, but  Nkx2-5  +/− / Sspn  KO  mutants have a higher incidence of muscular VSD than  Nkx2 - 5  +/−  mice. Myofibers in the ventricular septum follow a stereotypical pattern that is disrupted around a muscular VSD. Subendocardial myofibers normally run in parallel along the left ventricular outflow tract, but in the  Nkx2-5  +/− / Sspn  KO  mutant they commonly deviate into the septum even in the absence of a muscular VSD. Thus,  Nkx2-5  and  Sspn  act in a pathway that affects the alignment of myofibers during the development of the ventricular septum. The malalignment may be a consequence of a defect in the coalescence of trabeculae into the developing ventricular septum, which has been hypothesized to be the mechanistic basis of muscular VSDs.

Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart