Cardiomiopatia nelle sarcoglicanopatie: Aspetti clinici polimorfici

Sarcoglycanopathies are autosomal recessive limb-girdle dystrophies caused by a deficit of one of the four proteins (α, β, γ, δ SG) that constitute the sarcoglycan complex. Cardiac impairment (dilatative cardiomyopathy) has been reported in sporadic cases. In our study we have considered seven patients previously diagnosed as sarcoglycanopathies and we focused our attention on cardiac aspects. In four patients we found a polymorphic cardiac involvement (see text for details). Cardiac impairment in sarcoglycanopathies seems more common and polymorphic than previously reported independently by the primary deficit.