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贝克肌营养不良症心脏受累的管理:一例报告

Management of Cardiac Involvement in Becker Muscular Dystrophy: A Case Report.

作者信息

Gishto Taulant, Methoxha Silvia, Shuka Naltin, Preci Rudina, Simoni Leonard

机构信息

Cardiovascular Disease, University Hospital Center "Mother Teresa", Tirana, ALB.

Cardiovascular Medicine, University Hospital Center "Mother Teresa", Tirana, ALB.

出版信息

Cureus. 2024 Nov 5;16(11):e73029. doi: 10.7759/cureus.73029. eCollection 2024 Nov.

Abstract

Becker muscular dystrophy (BMD) is an X-linked recessive neuromuscular disorder caused by a mutation in the dystrophin gene. Cardiac involvement is a frequent finding in BMD, and manifestations may vary from asymptomatic cardiac involvement to developing symptoms of heart failure and severe cardiomyopathy. We presented the case of a 32-year-old wheelchair-dependent BMD patient who came to our cardiology clinic with a two-month history of heart palpitations, rest and nocturnal dyspnea, fatigue, and generalized muscular weakness. Upon evaluation, a 24-hour Holter rhythm showed complex ventricular arrhythmia and 300 polymorphic ventricular extrasystoles with episodes of ventricular bigeminy, while echocardiography revealed a dilated left ventricle with severe systolic dysfunction (left ventricular ejection fraction (LVEF) 23%) and impaired global contractility. An implantable cardioverter defibrillator (ICD) was implanted, and guideline direct medical therapy (GDMT), sacubitril/valsartan, bisoprolol, furosemide, spironolactone, and dapagliflozin were initiated. The patient was discharged five days later, in an improved clinical condition, without dyspnea. A follow-up appointment two weeks after discharge was recommended in order to evaluate the patient's symptoms and the effectiveness of GDMT and a follow-up echocardiography at least three months after discharge to evaluate the heart's systolic and diastolic function.

摘要

贝克肌肉营养不良症(BMD)是一种由肌营养不良蛋白基因突变引起的X连锁隐性神经肌肉疾病。心脏受累在BMD中很常见,其表现可能从无症状的心脏受累到出现心力衰竭和严重心肌病的症状不等。我们报告了一例32岁依赖轮椅的BMD患者,该患者因心悸、静息及夜间呼吸困难、疲劳和全身肌肉无力等症状持续两个月前来我们的心脏病诊所就诊。经评估,24小时动态心电图显示复杂室性心律失常及300次多形性室性早搏,伴有室性二联律发作,而超声心动图显示左心室扩张伴严重收缩功能障碍(左心室射血分数(LVEF)为23%)及整体收缩力受损。植入了植入式心脏复律除颤器(ICD),并开始了指南指导的药物治疗(GDMT),使用了沙库巴曲缬沙坦、比索洛尔、呋塞米、螺内酯和达格列净。患者五天后出院,临床状况有所改善,无呼吸困难。建议出院两周后进行随访预约,以评估患者症状及GDMT的疗效,并在出院至少三个月后进行随访超声心动图检查,以评估心脏的收缩和舒张功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0aad/11618128/e375b832c1ca/cureus-0016-00000073029-i01.jpg

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