Finsterer Josef, Stöllberger Claudia, Gencik Martin, Höftberger Romana, Rahimi Jasmin, Mokocki Johannes
Kar Vienna, Vienna, Austria.
Kar Vienna, Vienna, Austria.
Rev Port Cardiol. 2015 May;34(5):361.e1-4. doi: 10.1016/j.repc.2014.11.018. Epub 2015 May 7.
Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50-100 repeats have not been reported.
In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, and hyperCKemia, 70 CTG repeats were detected in the DMPK gene. Her brother had presented atypical clinical, electromyographic, and muscle biopsy features since the age of 35 but had been diagnosed with MD1 after he later developed typical distal myotonia. He died suddenly during an episode of syncope at the age of 53. A sister with clinical myotonia died suddenly during sleep at the age of 45 and a second sister with quadriparesis died from complications of intestinal rupture at age 52. A third sister committed suicide at age 40 after developing recurrent syncopes, while a fourth sister had hyperCKemia and foot-extensor weakness. The mother of these five affected children died suddenly from myocardial rupture.
MD1 with <100 CTG repeats may exclusively manifest cardiologically. Family screening for MD1 is important even in asymptomatic patients. MD1 may initially manifest without typical features, while muscle biopsy may be misleading and indicate glycogenosis. Close cardiac follow-up is important if MD1 manifests cardiologically to prevent syncope or sudden cardiac death.
尚未有因50 - 100次重复的CTG扩增导致的1型强直性肌营养不良（MD1）仅以晕厥和心悸作为初始表现的报道。
一名55岁女性，有MD1家族史，有单次晕厥、心悸和高肌酸激酶血症个人史，在DMPK基因中检测到70次CTG重复。她的哥哥自35岁起出现非典型临床、肌电图和肌肉活检特征，但后来出现典型远端肌强直后被诊断为MD1。他在53岁时晕厥发作期间突然死亡。一名有临床肌强直的姐姐在45岁睡眠中突然死亡，另一名四肢瘫痪的姐姐在52岁时死于肠破裂并发症。第三名姐姐在出现反复晕厥后于40岁自杀，而第四名姐姐有高肌酸激酶血症和足部伸肌无力。这五名患病子女的母亲因心肌破裂突然死亡。
CTG重复次数<100次的MD1可能仅在心脏方面表现出来。即使是无症状患者，对MD1进行家族筛查也很重要。MD1最初可能无典型特征表现，而肌肉活检可能产生误导并提示糖原贮积症。如果MD1在心脏方面表现出来，密切的心脏随访对于预防晕厥或心源性猝死很重要。
