DPD闪烁成像对转甲状腺素V30M心脏淀粉样变性的诊断和预后作用。

IF 5.2 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Maria C Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Susana Gonçalves, Nelson Cunha, Tiago Rodrigues, Laura Santos, Isabel Conceição, João Agostinho, Fausto J Pinto
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引用次数: 0

摘要

背景:心脏转甲状腺素淀粉样变性的早期诊断和预后分层至关重要。虽然 99mTc 3,3-二磷酸-1,2-丙二羧酸(DPD)闪烁扫描是非侵入性诊断的首选方法,但其准确性在经蝶呤淀粉样变性蛋白(ATTR)V30M 突变中似乎受到限制。此外,这种突变的预后价值尚不清楚。本研究调查了DPD闪烁成像对检测V30M突变的ATTR心肌病的诊断价值,并探讨了其对死亡率的预后价值:方法:共招募了288名ATTR V30M突变携带者(中位年龄:46岁;49%为男性),他们均无其他原因导致的心肌增厚(定义为室间隔厚度≥13mm),并接受了DPD闪烁扫描。ATTR心肌病的定义是室间隔厚度≥13毫米,且至少有一项标准:晚期心-纵隔(H/M)123I-甲碘苄胍(MIBG)摄取比值 结果:41例(14.2%)患者发现了ATTR心肌病,34例(11.8%)患者发现了心脏DPD摄取。在平均 33.6 ± 1.2 个月的随访期间,16 名患者死亡(5.6%)。ATTR心肌病患者的死亡率是其他患者的14倍,DPD摄取患者的死亡率是其他患者的13倍,晚期H/M MIBG患者的死亡率是其他患者的10倍:DPD 闪烁扫描有助于对 ATTR V30M 突变携带者进行预后分层。与有任何心脏受累迹象的患者相比,无室间隔增厚且无 DPD 摄取的患者预后最好。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnostic and prognostic contribution of DPD scintigraphy in transthyretin V30M cardiac amyloidosis.

Background: Early diagnosis and prognostic stratification of cardiac transthyretin amyloidosis are crucial. Although 99mTc 3,3-diphosphono-1,2-propanedicarboxylic acid (DPD) scintigraphy is the preferred method for the non-invasive diagnosis, its accuracy appears to be limited in transthyretin amyloidosis protein (ATTR) V30M mutation. Furthermore, its prognostic value in this mutation is unknown. This study investigated the diagnostic value of DPD scintigraphy to detect ATTR cardiomyopathy in V30M mutation and explored its prognostic value regarding mortality.

Methods: A total of 288 ATTR V30M mutation carriers (median age: 46 years; 49% males) without myocardial thickening (defined as septal thickness ≥13mm) attributable to other causes and who underwent DPD scintigraphy were enrolled. ATTR cardiomyopathy was defined by septal thickness ≥13mm and at least one of the criteria: late heart-to-mediastinum (H/M) 123I-metaiodobenzylguanidine (MIBG) uptake ratio <1.60; electrical heart disease or biopsy-documented amyloidosis.

Results: ATTR cardiomyopathy was identified in 41 (14.2%) patients and cardiac DPD uptake in 34 (11.8%). During a mean follow-up of 33.6 ± 1.2 months, 16 patients died (5.6%). Mortality was 14 times higher in patients with ATTR cardiomyopathy, 13 times higher in those with DPD uptake and 10 times higher in those with late H/M MIBG <1.60. The combined assessment of septal thickness and cardiac DPD uptake improved risk stratification: patients without septal thickening and without DPD retention had an excellent prognosis while those who presented either or both of them had a significantly worse prognosis, with 5-year mortality rates ranging from 39.9 to 53.3%.

Conclusions: DPD scintigraphy is useful for prognostic stratification of ATTR V30M mutation carriers. Patients without septal thickening and no DPD uptake present the best prognosis compared to those with any signs of cardiac involvement.

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来源期刊
Amyloid-Journal of Protein Folding Disorders
Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学
CiteScore
10.60
自引率
10.90%
发文量
48
审稿时长
6-12 weeks
期刊介绍: Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.
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