Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis
Jihye You1, Mi Jin Kim2, Seulgi Cha2
1Department of Pediatrics, Jeonbuk National University Children's Hospital, Jeonju, Korea.
Insights
Becker muscular dystrophy (BMD) patients show early cardiac dysfunction. Echocardiography can detect subclinical heart changes in young BMD patients, aiding timely intervention.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Becker muscular dystrophy (BMD) is a genetic disorder caused by dystrophin gene mutations.
- Cardiac involvement is a common and significant manifestation in BMD patients.
- The precise onset of cardiac dysfunction in pediatric BMD is not well-defined.
Purpose of the Study:
- To investigate early cardiac functional abnormalities in pediatric patients with BMD.
- To compare echocardiographic parameters between BMD patients and age/sex-matched controls.
- To determine the influence of age on cardiac alterations in BMD.
Main Methods:
- Retrospective analysis of echocardiographic data from 17 pediatric BMD patients.
- Comparison with 17 age- and sex-matched healthy controls.
- Evaluation of standard and deformation echocardiographic parameters.
Main Results:
- BMD patients exhibited significantly reduced echocardiographic measures, particularly deformation parameters, compared to controls.
- Age was found to influence the observed cardiac alterations.
- Subclinical cardiac dysfunction was evident in the BMD cohort.
Conclusions:
- Early echocardiographic monitoring is crucial for identifying subclinical cardiac dysfunction in pediatric BMD.
- Younger patients (<10 years) with BMD may benefit from targeted cardiac screening.
- Prompt detection can facilitate timely management of cardiac complications in BMD.
Abstract:
Becker muscular dystrophy is an infrequent genetic disorder that results from dystrophin gene mutations. Cardiac involvement is a primary manifestation. The time of onset of underlying cardiac functional abnormalities remains largely undefined. This study involved 17 pediatric patients with Becker muscular dystrophy who visited our hospital between January 1, 2002, and December 31, 2018, and underwent echocardiographic imaging analysis. Another set of 17 controls matched for age and sex to the patient cohort was chosen for comparison. Patients with Becker muscular dystrophy demonstrated a decline in echocardiographic measures, especially deformation parameters, compared with the control group. This alteration is influenced by age. Our findings suggest that early echocardiographic monitoring may help identify subclinical cardiac dysfunction, particularly in younger patients (<10 years of age).
