Genetic and Clinical Study on a Family with Becker's Muscular Dystrophy Combined with Phenotype of Severe Cardiac Involvement

Junting Huo1, Linggen Gao2, Bin Wang2, Ying Pan2 and Xianliang Zhou3*

1Department of Neurology, Chui Yang Liu Hospital Affiliated to Tsinghua University, China
2Department of Comprehensive Surgery, General Hospital of Chinese People's Liberation Army ＆National Clinical Research Center for Geriatric Disease, China
3Department of Cardiology, Fu Wai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, China

^*Correspondance to: Xianliang Zhou, 

 PDF  Full Text DOI: 10.25107/2474-1647.3367

Abstract

Dystrophy (DMD). Different types of mutations have been reported in patients with DMD and BMD. In the present study, we identify the dystrophin gene mutation and explore the management of BMD combined with severe cardiac involvement. Methods: We screened a patient with severe congestive heart failure who was clinically diagnosed with BMD for mutations in the dystrophin gene. We also screened for these mutations in his family members and in 100 controls. Results: The proband, a 45-yr-old man, was diagnosed with BMD by the identification of a novel mutation c.4998_5000Del GCA, p.1667del) in the exon 35 of the dystrophin gene. Six females and three males in this family carried the same mutation in the dystrophin gene. The proband underwent heart transplantation due to severe heart failure and recovered well after surgery. Conclusion: We have detected a novel mutation that causes BMD. This confirms the diagnosis and helps to guide effective therapy for this patient and his affected relatives. Cardiac transplantation is an effective treatment for the patient with BMD combined with phenotype of severe heart failure.

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Cite the article

Huo J, Gao L, Wang B, Pan Y, Zhou X. Genetic and Clinical Study on a Family with Becker's Muscular Dystrophy Combined with Phenotype of Severe Cardiac Involvement. Clin Surg. 2021; 6: 3367.