Case reportTOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

- Expanding the phenotype of TOR1AIP1.
- TOR1AIP1 associated with severe cardiac failure requiring transplantations in addition to limb-girdle muscular dystrophy.
- Absence of TOR1AIP1 protein expression in cardiac and skeletal muscle.

TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular dystrophy. We demonstrate an absence of TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings. We expand the phenotype of this gene to demonstrate the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1AIP1.