Sultan Ambreen, Fayaz Mohammad
Department of Human Genetics, Newcastle General Hospital and University of Newcastle Upon Tyne.
J Ayub Med Coll Abbottabad. 2008 Apr-Jun;20(2):7-13.
Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy.
It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments.
The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram.
Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years.
在英国北部地区,杜氏肌营养不良(DMD)和贝克型肌营养不良(BMD)患者未进行常规心脏评估,而此时关于这些患者进行性心肌病的证据正在不断积累。我们想了解杜氏和贝克型肌营养不良患者心脏受累的患病率、进展情况及临床特征。
这是一项对临床、心电图和超声心动图评估的回顾性研究。
对52例杜氏和贝克型肌营养不良患者的病历进行了回顾,其中32例为DMD,6例为中间型肌营养不良(IMD),14例为BMD。DMD和BMD患者临床前期和临床明显心脏受累的患病率为88.4%。69%的患者有临床明显心脏受累,但只有4例患者有心悸形式的心脏症状,其中2例是由于呼吸功能障碍,其他是由于心力衰竭。其余所有患者的临床检查均无异常。88.4%的患者心电图异常。19.4%的患者发现传导缺陷。80.7%的患者超声心动图异常,但所有患者的回声质量均较差,包括那些超声心动图正常的患者。
虽然大多数患者无症状,但有很高比例的患者有临床前期和临床明显心脏受累的证据。因此,对于所有Xp21连锁肌营养不良患者,应在10岁时进行常规基线心脏评估,并在1至2年后进行复查。