von zur Mühlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimers C D
Department of Cardiology, Georg-August-University, Göttingen, Germany.
Heart. 1998 Jun;79(6):619-21. doi: 10.1136/hrt.79.6.619.
Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.
近端肌强直性肌病（PROMM）是一种最近被描述的常染色体显性遗传疾病，可导致近端肌肉无力、肌强直和白内障。已有少数心脏受累（窦性心动过缓、室上性二联律、传导异常）的患者报道。本文报道了3例患有PROMM的亲属（颈屈肌和近端肢体肌肉无力、小腿肥大、肌强直、白内障）：一名54岁男性、他73岁的母亲和66岁的阿姨。三人均出现传导异常，其中一人有反复发作、危及生命的持续性单形性室性心动过速。这表明PROMM可能会出现严重的心脏受累。
