PDF(Pubmed)
Abstract：
UNASSIGNED: Becker muscular dystrophy (BMD) is an inherited X-linked recessive condition resulting from mutations of the DMD gene encoding dystrophin. Left ventricular noncompaction (LVNC) is a rare cardiomyopathy morphologically characterized by abnormal myocardial trabeculae and deep recesses in the left ventricle. LVNC in BMD patients has only rarely been reported.
UNASSIGNED: In the present study, we identified a deletion mutation in exons 10 to 12 (EX10_12 del) of the DMD gene (reference sequence NM_004006.2) in two Chinese siblings with BMD and LVNC by high throughput targeted next-generation sequencing (NGS) and quantitative polymerase chain reaction (qPCR). The proband was a 22-year-old man admitted with dyspnea, abdominal distention, and polyserositis. It is noteworthy that both the proband and his younger brother manifested progressive muscular atrophy and creatine kinase (CK) elevation. Light and electron microscopy examination of muscle biopsies showed the typical features of dystrophinopathies. Cardiac magnetic resonance imaging and echocardiography demonstrated that both brothers had an enlarged left ventricle, LVNC, and reduced left ventricular ejection fraction. Finally, the proband underwent heart transplantation at age 26 with an event-free follow-up over 4 years post-transplantation.
UNASSIGNED: This case further enriches our knowledge of the symptoms, genotype, cardiac performance, management, and prognosis of BMD patients complicated by LVNC. It is recommended that early comprehensive cardiac evaluation should be considered for patients with BMD to exclude LVNC, as this may have a significant impact on their prognosis.
UNASSIGNED: In the present study, we identified a deletion mutation in exons 10 to 12 (EX10_12 del) of the DMD gene (reference sequence NM_004006.2) in two Chinese siblings with BMD and LVNC by high throughput targeted next-generation sequencing (NGS) and quantitative polymerase chain reaction (qPCR). The proband was a 22-year-old man admitted with dyspnea, abdominal distention, and polyserositis. It is noteworthy that both the proband and his younger brother manifested progressive muscular atrophy and creatine kinase (CK) elevation. Light and electron microscopy examination of muscle biopsies showed the typical features of dystrophinopathies. Cardiac magnetic resonance imaging and echocardiography demonstrated that both brothers had an enlarged left ventricle, LVNC, and reduced left ventricular ejection fraction. Finally, the proband underwent heart transplantation at age 26 with an event-free follow-up over 4 years post-transplantation.
UNASSIGNED: This case further enriches our knowledge of the symptoms, genotype, cardiac performance, management, and prognosis of BMD patients complicated by LVNC. It is recommended that early comprehensive cardiac evaluation should be considered for patients with BMD to exclude LVNC, as this may have a significant impact on their prognosis.
摘要：
■贝克尔肌营养不良症(BMD)是由编码肌营养不良蛋白的DMD基因的突变引起的遗传X连锁隐性病症。左心室致密化不全（LVNC）是一种罕见的心肌病，其形态学特征是心肌小梁异常和左心室深凹。BMD患者的LVNC很少有报道。
■在本研究中，我们通过高通量靶向下一代测序(NGS)和定量聚合酶链反应(qPCR),在两名患有BMD和LVNC的中国同胞中,鉴定出DMD基因(参考序列NM_004006.2)外显子10~12(EX10_12del)的缺失突变.先证者是一名二十二岁男子因呼吸困难入院,腹胀,和多发性浆膜炎。值得注意的是，先证者和他的弟弟都表现出进行性肌萎缩和肌酸激酶（CK）升高。肌肉活检的光学和电子显微镜检查显示了肌营养不良蛋白病的典型特征。心脏磁共振成像和超声心动图显示，这两个兄弟都有左心室扩大，LVNC,左心室射血分数降低。最后,先证者在26岁时接受了心脏移植,移植后4年无事件随访.
■这个病例进一步丰富了我们对症状的认识,基因型，心脏性能，管理,BMD并发LVNC患者的预后。建议BMD患者应考虑早期综合心脏评估以排除LVNC。因为这可能对他们的预后有重大影响。
■在本研究中，我们通过高通量靶向下一代测序(NGS)和定量聚合酶链反应(qPCR),在两名患有BMD和LVNC的中国同胞中,鉴定出DMD基因(参考序列NM_004006.2)外显子10~12(EX10_12del)的缺失突变.先证者是一名二十二岁男子因呼吸困难入院,腹胀,和多发性浆膜炎。值得注意的是，先证者和他的弟弟都表现出进行性肌萎缩和肌酸激酶（CK）升高。肌肉活检的光学和电子显微镜检查显示了肌营养不良蛋白病的典型特征。心脏磁共振成像和超声心动图显示，这两个兄弟都有左心室扩大，LVNC,左心室射血分数降低。最后,先证者在26岁时接受了心脏移植,移植后4年无事件随访.
■这个病例进一步丰富了我们对症状的认识,基因型，心脏性能，管理,BMD并发LVNC患者的预后。建议BMD患者应考虑早期综合心脏评估以排除LVNC。因为这可能对他们的预后有重大影响。
