Case report: A rare case of left ventricular noncompaction in two Chinese siblings with becker muscular dystrophy caused by deletion of exons 10 to 12 in the DMD gene

Background Becker muscular dystrophy (BMD) is an inherited X-linked recessive condition resulting from mutations of the DMD gene encoding dystrophin. Left ventricular noncompaction (LVNC) a rare cardiomyopathy morphologically characterized by abnormal myocardial trabeculae and deep recesses in left ventricle. LVNC BMD patients has only rarely been reported. Case report In present study, we identified deletion mutation exons 10 to 12 (EX10_12 del) (reference sequence NM_004006.2) two Chinese siblings with high throughput targeted next-generation sequencing (NGS) quantitative polymerase chain reaction (qPCR). The proband was 22-year-old man admitted dyspnea, abdominal distention, polyserositis. It noteworthy that both his younger brother manifested progressive atrophy creatine kinase (CK) elevation. Light electron microscopy examination muscle biopsies showed typical features dystrophinopathies. Cardiac magnetic resonance imaging echocardiography demonstrated brothers had enlarged ventricle, LVNC, reduced ejection fraction. Finally, underwent heart transplantation at age 26 event-free follow-up over 4 years post-transplantation. Conclusion This case further enriches our knowledge symptoms, genotype, cardiac performance, management, prognosis complicated LVNC. recommended early comprehensive evaluation should be considered for exclude as this may have significant impact on their prognosis.