lnternutionrrl Journal of Cardiology. 34 (1992) 297- 305 $3 1992 Elsevier Science Publishers B.V. All rights resewed 0167.5273/92/$0.5.00 297 CARD10 01398 The cardiomyopathy of Duchenne/ Becker consultands L.I. Comi, G. Nigro, L. Politano and V.R. Petretta ” Flui ‘iano M agrassi ” Department of Clinical and Experimental Medicine, Naples I/nil ser.sity, Naples. Ita!\ (Received 21 October 1990; revision accepted 10 October 1991) Corni LI, Nigro G, Politano L, Petretta VR. The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol 1992;34:297-305. zyxwvutsrqponmlkjihgfedcbaZYXWVUTSRQPONMLKJIHGFEDCBA Clinical, electrocardiographic, echocardiographic and other instrumental examinations were per- formed on 233 persons primarily seeking genetic advice about the Duchenne/ Becker gene in order to reveal the incidence of dystrophic cardiomyopathy in a population of females with a close relationship with patients suffering from Duchenne or Becker muscular dystrophy. Among these consultands, 210 were Duchenne and 23 Becker. Eight five (40.4%) Duchenne and 8 (34.8%) Becker consultands showed a normal cardiac status; 35 (16.6%) Duchenne and 6 (26.1%) Becker had clinically evident cardiomyopathy; 90 (43%) Duchenne and 9 (39.1%) Becker showed minor signs of myocardial involvement. The link between myocardial involvement and the Duchenne /Becker carrier condition was demon- strated through the observation that the percentage of cases showing pre-clinical or clinically evident cardiomyopathy was higher in the consultands with pathological values of serum creatine kinase activity (obligatory carriers) and/or an estimated genetic risk higher than 70% than in the consultands showing a normal value of serum creatine kinase activity ( < 80 U/I) and/or a genetic risk lower than 70%. Key words: Duchenne muscular dystrophy; Becker muscular dystrophy; Dystrophic cardiomyopathy; Cardiomyopathy in Duchenne/Becker carrier Introduction The presumption expressed by us in previous papers [l-3] that myocardial damage in X-linked muscular dystrophies must be considered primary is no longer a presumption. In fact, the anomalies of the gene product, dystrophin, both in my- ocardium and in skeletal muscle confirm at an Correspondence to: Prof. L.I. Comi. Viale dei Pini 101, 80131 Napoli. Italy. ultrastructural level what was possible to assert on the grounds of clinical data and results of non-invasive instrumental examination [4-151. In a recent paper [4] our work group reported the results of studies performed on Duchenne and Becker patients with respect to the inci- dence, evolution and clinical features of dys- trophic cardiomyopathy. In the same paper pre- liminary data were also presented of the observa- tions made on a group of Duchenne obligatory carriers. Those observations allowed us to note a very similar behaviour of cardiovascular features