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Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era

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Abstract

Becker muscular dystrophy (BMD) is an X-linked recessive disorder responsible for mild skeletal muscle involvement and variable degree of cardiomyopathy. The characteristics of cardiac phenotype of BMD in childhood remain elusive. Clinical manifestations, genotype, serum biomarkers, and echocardiogram were retrospectively reviewed in BMD patients. Cardiac phenotype was classified into acute progressive (AP), chronic persistent (CP), and latent (L) groups based upon symptoms and echocardiographic findings. Twenty-five BMD patients were studied over 9.5 ± 2.5 years. Sixteen patients presented initially with variable degree of muscle weakness whereas 9 were asymptomatic. Three patients developed medically refractory heart failure by age 18 with progressive dilated cardiomyopathy (DCM) (AP). Six patients developed mild to moderate left ventricular (LV) systolic dysfunction with LV dilatation but remained asymptomatic (CP). Although 16 patients continued to show normal LV function (L), they demonstrated variable degrees of skeletal muscle involvement. The AP groups presented with significantly larger LV size and LV mass index (LVMI) at the initial encounter than groups CP or L, suggesting early myocardial remodeling predicts rapid disease progression. None presented with atrophic myocardial phenotype commonly observed in Duchenne muscular dystrophy (DMD). Wide availability of genetic testing has changed the scope of clinical presentation of BMD. Cardiomyopathy in BMD presents with a diverse clinical spectrum with variable progression of DCM where larger LV dimension and mass at the time of diagnosis may predict the progressiveness of cardiomyopathy.

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Acknowledgements

The Authors thank Ms. Amy Stoddart for obtaining genotype information for the patients included in this study and Ms. Kimberly Eissemann for editing the manuscript text.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Author notes

  1. Priya Nigam

    Present address: Children’s Heart Program, University of Maryland Medical Center, Baltimore, MD, 21201, USA

Authors and Affiliations

  1. Nemours Cardiac Center, Nemours Children’s Hospital Delaware, 1600 Rockland Rd, Wilmington, DE, 19803, USA

    Priya Nigam, Kristi K. Fitzgerald & Takeshi Tsuda

  2. Division of Neurology, Nemours Children’s Hospital Delaware, 1600 Rockland Rd, Wilmington, DE, 19803, USA

    Mena Scavina

  3. Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, 1015 Walnut St, Philadelphia, PA, 19107, USA

    Takeshi Tsuda

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Contributions

TT conceptualized the study. Both PN and TT collected the data and created tables and figures. KF organized the genetic data. MS who runs Neuromuscular clinic provided important advice to the study. Both PN and TT wrote a manuscript which was read and approved by all authors.

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Correspondence to Takeshi Tsuda.

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Nigam, P., Fitzgerald, K.K., Scavina, M. et al. Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era. Pediatr Cardiol (2024). https://doi.org/10.1007/s00246-023-03382-9

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