The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium of researchers has now identified new mutations in this gene, thus adding to the knowledge of the disease, and has also developed an animal model.
- These new mutations in integrin a-7 were identified in two families with a total of five members being followed for arrhythmogenic heart disease and left ventricular dysfunction starting in the thirties.
- Respiratory impairment was also noted but at a later stage.
- The knock-out mice for the gene coding for integrin a-7 show a cardiac phenotype superimposed on the human disease.
The authors conclude that all patients with integrin a-7 deficient CMD should be monitored for cardiac disease.
