FREQUENCY OF CARDIAC AFFECTION IN DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND CARRIERS IN AIN SHAMS UNIVERSITY HOSPITALS

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is considered the most common inherited
neuromuscular disorder that shows an X-linked recessive pattern of inheritance. Cardiac manifestations are
the most common causes of death in DMD patients.[1,2] Several studies discussed the effect of the genetic
diagnosis on the progression of cardiomyopathy. There is a conflict regarding specific mutations as being
either cardioprotective or being risk factor for development of cardiomyopathy.
Methodology: In this study, 30 genetically diagnosed patients and 26 genetically diagnosed carriers were
subjected to history taking, clinical examination, ECG and echocardiography.
Results: DMD patients with exon 65 mutation appeared to have a better LV EF compared to patients who
don’t have this mutation. Female carriers of DMD mutations located 3-6 had larger LV dimensions
compared to patients who don’t have these mutations.
Conclusion: There is still a conflict regarding relation between different exon mutations and cardiac
affection. Exon 65 appeared to have a cardioprotective effect in DMD patients. Female carriers with
mutations in exon 3-6 tended to have larger LV internal dimensions.