Duchenne muscular dystrophy: an overview to the cardiologist

ABSTRACT

Introduction

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, affecting approximately one in 3,500–5,000 liveborn boys. The main signs and symptoms include gait disturbances beginning in early childhood, with later onset of respiratory and cardiac function disorders, both directly affecting the prognosis.

Areas covered

The recent improvement of mechanical ventilation increased the mean DMD survival age; however, there has been little progress in the treatment and prevention of cardiac complications, which currently predominantly impact survival. Cardiological evaluation with imaging methods, such as echocardiography and magnetic resonance imaging, can improve the understanding and detect changes in cardiac function early.

Expert opinion

Close monitoring by the cardiologists and early treatment, with adequate heart disease stratification, may be the key to prolong the lives of these patients until more promising therapies are available and can predict DMD prognosis and progression more accurately. The objective of this brief review is to update the cardiologists by highlighting the most relevant aspects of treatment and follow-up, in a practical and concise way.

KEYWORDS:

• Duchenne muscular dystrophy
• dilated cardiomyopathy
• muscular dystrophy
• cardiac evaluation

Article highlights

• We examined the use of cardiological evaluation in Duchenne muscular dystrophy.

• There is evidence for the use of pharmacological treatment.

• Early treatment and follow-up are important.

• We outline the perspectives in gene therapy and advanced research.

Acknowledgments

The authors thank Professor Maria do Carmo Valente de Crasto for the countless years of dedication to DMD patients monitored at the Gaffrée and Guinle University Hospital.

Declaration of interest

A. P. Nucera received compensation for classes and participation in events sponsored by Sarepta Therapeutics. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose. 

Additional information

Funding

This paper was not funded.