Pethig K, Manz F, Kuhn H
II. Medizinische Klinik, Städtische Krankenanstalten Bielefeld-Mitte.
Z Kardiol. 1995 Jun;84(6):490-5.
A case report is given of a 37-year-old patient suffering from rigid spine syndrome and hypertrophic non-obstructive cardiomyopathy. Clinical-cardiological and neurological findings are discussed. This is the first description of such a case in the German-language region; only two other similar publications are found in the whole literature. Follow-up is documented over a period of 10 years; apart from the early dominating neuro-muscular deficit, we saw only a mild progression of symptoms. Signs of an increasing diastolic dysfunction of the left ventricle without clinical complaints were the main cardiological findings. Because of substantial progress in elucidating the genetics of hypertrophic cardiomyopathies over recent years, case reports about the association of two different type of muscular disorders are thought to be of special interest in terms of a common etiological basis.
报告了一例37岁患有僵硬脊柱综合征和肥厚性非梗阻性心肌病的患者。讨论了临床心脏病学和神经学检查结果。这是德语地区对该病例的首次描述；在全部文献中仅发现另外两篇类似的出版物。记录了10年的随访情况；除了早期占主导的神经肌肉功能缺损外，我们仅观察到症状有轻微进展。左心室舒张功能障碍加重但无临床症状是主要的心脏病学检查结果。由于近年来在肥厚性心肌病遗传学研究方面取得了重大进展，关于两种不同类型肌肉疾病关联的病例报告在共同病因学基础方面被认为具有特殊意义。
