Cardiac evaluation in a group of pediatric female carriers of dystrophinopathy

Abstract EN

Objective : to evaluate the cardiac status among a group of female carriers of Duchenne and Becker muscular dystrophy under the age of 16 years and to determine the frequency of cardiac abnormalities.

Methods : Eight female carriers were identified within the register of the Newcastle Muscle Centre (mean age 11.9 + 4 years ; range 5-16).

Clinical examination, ECG, 2-dimensional echocardiography and Doppler studies were performed for all cases.

This study was conducted during the period between January 2001 till July 2008.

Results : Four (50 %) were carriers of Duchenne and four (50 %) of Becker muscular dystrophy mutations.

All had normal cardiac examination.

No one had any of the typical electrocardiographic changes seen in affected males with cardiac dystrophinopathy.

No one had echocardiographic changes suggestive of cardiomyopathy.

Heart dimensions were normal in all subjects.

None had evidence of left ventricular impairment or regional wall motion abnormalities.

Conclusion : Cardiac involvements in female carriers of Duchenne and Becker muscular dystrophy are unlikely to occur in the pediatric age group under the age of 16 years.

Cardiac surveillance is justified after the age of 16 years.