Heart transplantation in patients with Inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle

Cardiac involvement in patients with inherited myopathies is well described in the literature. In dystrophinopathies (Duchenne muscular dystrophy [DMD], Becker muscular dystrophy [BMD], and DMD/BMD carriers), dilated cardiomyopathy (DCM) has been reported in association with muscular dystrophy. In addition, in cases with particularly mild skeletal muscle involvement,3 cardiomyopathy may be the primary clinical feature and the main clinical problem. In mitochondrial myopathies, cardiac conduction defects have been described in many patients, whereas both hypertrophic (HCM) and DCM have been reported infrequently. In desminopathies, cardiomyopathy with conduction abnormalities is frequently associated with myopathy and may predominate.9 Up to now, end-stage cardiomyopathy resulting from dystrophinopathies, desminopathies, and mitochondrial myopathies have been accepted for heart transplantation (HTx) with reluctance because of a high perioperative risk caused by physical disability and restrictive respiratory failure. Moreover, a suspected rapid onset of cardiomyopathy of the transplanted heart is a further concern.10 Here we report five cases of end-stage cardiomyopathy with mild to moderate myopathies, who successfully underwent heart transplantation and were followed up for 72 months after surgery.