心脏淀粉样变性、单克隆丙种球蛋白病及一种可能具有误导性的突变。
Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation.
作者信息
Wechalekar Ashutosh D, Offer Mark, Gillmore Julian D, Hawkins Philip N, Lachmann Helen J
机构信息
National Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Department of Medicine (Hampstead Campus), Royal Free and University College Medical School, London, UK.
出版信息
Nat Clin Pract Cardiovasc Med. 2009 Feb;6(2):128-33. doi: 10.1038/ncpcardio1423. Epub 2008 Dec 17.
BACKGROUND
A 46-year-old Afro-Caribbean man presented with progressive dyspnea and recurrent syncope. Clinical examination revealed evidence of biventricular failure.
INVESTIGATIONS
Electrocardiography, echocardiography, cardiac biopsy, measurement of serum levels of free light chain, scintigraphy with radiolabeled serum amyloid P component, transthyretin gene sequencing and immunohistochemistry.
DIAGNOSIS
Cardiac acquired monoclonal immunoglobulin-light-chain amyloidosis with the incidental presence of the amyloidogenic transthyretin Val122Ile mutation.
MANAGEMENT
The patient was referred for consideration of urgent cardiac transplantation and subsequent autologous stem cell transplantation. Unfortunately, he died suddenly within a few weeks of referral.
背景
一名46岁的非洲加勒比裔男性出现进行性呼吸困难和反复晕厥。临床检查发现双心室衰竭的证据。
检查
心电图、超声心动图、心脏活检、血清游离轻链水平测定、放射性标记血清淀粉样蛋白P成分闪烁扫描、转甲状腺素蛋白基因测序和免疫组织化学。
诊断
心脏获得性单克隆免疫球蛋白轻链淀粉样变性，伴有淀粉样变性转甲状腺素蛋白Val122Ile突变。
治疗
该患者被转诊考虑紧急心脏移植及随后的自体干细胞移植。不幸的是，在转诊后的几周内他突然死亡。
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