Biesenbach E, Nia A, Caglayan E, Er F, Gassanov N
Klinik III für Innere Medizin, Herzzentrum der Universität zu Köln.
Dtsch Med Wochenschr. 2012 Jun;137(25-26):1356-9. doi: 10.1055/s-0032-1305071. Epub 2012 Jun 12.
A 51-year-old woman was referred for kidney transplant evaluation. An HIV infection had been diagnosed ten years ago, viral load being negative at present. Renal type AA-amyloidosis was demonstrated by kidney biopsies. The patient had no symptoms. Clinical examination revealed no significant abnormalities with exception of a systolic murmur. A 12-channel electrocardiogram demonstrated peripheral low voltage. Echocardiography showed severe diastolic dysfunction, ventricular hypertrophy and biatrial dilatation. In addition, the aortic valve displayed a calcified mass.
Treatment with an ACE-inhibitor for diastolic heart failure was continued, and the patient was included into the renal transplantation program.
Amyloidosis is characterized by an abnormal folding of certain proteins and their extracellular deposition in several organs. This leads to corresponding dysfunction and can result in organ failure. Cardiac involvement is usually associated with immunoglobulin-light-chain (AL) - or familial transthyretin-associated (ATTR) - amyloidosis and indicates a poor prognosis. This report demonstrates a rare case of pronounced cardiac manifestation of the amyloid protein A (AA) - amyloidosis.
一名51岁女性因肾移植评估前来就诊。10年前诊断出感染HIV，目前病毒载量为阴性。肾活检显示为肾型AA淀粉样变性。患者无症状。临床检查除收缩期杂音外无明显异常。12导联心电图显示外周低电压。超声心动图显示严重舒张功能障碍、心室肥厚和双房扩大。此外，主动脉瓣有钙化团块。
继续使用ACE抑制剂治疗舒张性心力衰竭，患者被纳入肾移植计划。
淀粉样变性的特征是某些蛋白质异常折叠并在多个器官细胞外沉积。这会导致相应功能障碍并可能导致器官衰竭。心脏受累通常与免疫球蛋白轻链（AL）淀粉样变性或家族性转甲状腺素蛋白相关（ATTR）淀粉样变性有关，提示预后不良。本报告展示了一例罕见的AA淀粉样变性显著心脏表现的病例。
