Brychta T, Parenica J, Zatocil T, Manousek J, Tesák M, Schildberger J, Kala P, Semrád B, Brázdil J, Cíhalová M
Interní kardiologická klinika Lékarské fakulty MU a FN Brno.
Vnitr Lek. 2004 Jan;50(1):66-71.
Primary amyloidosis is a rare disease, cardiac involvement occurs in up to 40% of patients. Diffuse amyloid deposits cause an impairment of myocardial systolic and diastolic function. In this paper we are presenting a case of a 54-year-old woman. The woman was admitted because of progressive fatigue, dyspnoea, chest pain, later she experienced hypotension, dyspepsia, and enterorrhagia. ECG showed decrease in QRS amplitude. We have found an echocardiographic evidence of wall hypertrophy. Right cardiac catheterization showed a restrictive situation. Immunobinding of serum and urine revealed monoclonal kappa light chains. The diagnosis was determined by rectal biopsy. Unfortunately, amyloid deposits caused progressive heart failure, hemorrhage, and death just before the diagnosis of primary amyloidosis could be determined on the basis of results of the immunofixations of serum and urine proteins (detection of the monoclonal light chains kappa) and from biopsy specimens taken from rectum (amyloid deposits).
原发性淀粉样变性是一种罕见疾病，高达40%的患者会出现心脏受累。弥漫性淀粉样沉积物会导致心肌收缩和舒张功能受损。在本文中，我们介绍了一名54岁女性的病例。该女性因进行性疲劳、呼吸困难、胸痛入院，随后出现低血压、消化不良和肠出血。心电图显示QRS波幅降低。我们发现了壁肥厚的超声心动图证据。右心导管检查显示为限制性情况。血清和尿液的免疫结合显示单克隆κ轻链。通过直肠活检确定诊断。不幸的是，在根据血清和尿液蛋白免疫固定结果（检测单克隆轻链κ）以及从直肠获取的活检标本（淀粉样沉积物）确定原发性淀粉样变性诊断之前，淀粉样沉积物就已导致进行性心力衰竭、出血和死亡。
