Fonseca C, Ceia F, Nogueira J S, Alves M, Carvalho M, Luís M de L, Luís A S
Centro de Estudos Egas Moniz, Faculdade de Medicina de Lisboa.
Rev Port Cardiol. 1991 Dec;10(12):909-16.
To assess the cardiac involvement of familial amyloidotic polyneuropathy--Portuguese type (FAP) in a prospective study.
FAP is a sensitive, motor and autonomic familial polyneuropathy, due to amyloid deposits on nerve and vascular structures, related to abnormal transthyretin synthesis. FAP is a progressive systemic disease. The associated cardiomyopathy is well characterized in the Japanese form, but studies on FAP--Portuguese type cardiomyopathy remains controversial, regarding its occurrence and clinical and morphofunctional aspects.
The Authors studied 60 Portuguese caucasoid patients, belonging to 55 different families: 23 women from 27 to 67 years old (m = 40.78 +/- 18.4) and 37 men, from 31 to 60 years old (m = 40.8 +/- 12.8). The diagnosis was established by characteristic clinical aspects, electromyograms and nerve or gut biopsies, positive for amyloid. Patients were classified in phases from I to VI according to the severity of neurological involvement and disability.
All the patients carried out clinical evaluation, thorax X-Ray, conventional EKG, Holter EKG (20-24 hours), M + 2D echocardiography and phonocardiography. Morphological and functional data were obtained from 85 echocardiographic recordings; special attention was paid to the evidence of structural abnormalities, evaluation of internal chamber dimension, left ventricular mass and systolic function indexes (left ventricular fractional shortening, left ventricular ejection fraction, left ventricular end-systolic stress index and Vcf).
Suggestive aspects of pericardial and myocardial amyloid infiltration were found even in the earliest phases of the disease; all the records of patients in advanced phases (III to VI) were abnormal. The most frequent abnormalities founded were: a bright sparkling pericardial and myocardial echo pattern and increased ventricular wall thickness, with increased left ventricular mass index in 85% of patients in phases III to VI. Vcf was abnormally increased when plotted together with left ventricular end-systolic stress index, which was normal or decreased, probably reflecting "excessive" inotropism, in 1/3 of patients in phases III to VI. Systolic function was never depressed; no cardiac chamber enlarged. So, this study points out the presence of an infiltrative and/or hypertrophic cardiomyopathy in FAP--Portuguese type; suggestive aspects of diastolic dysfunction and decrease in systolic function were recorded. However, in the clinical setting of FAP, symptoms and signs like dyspnea, fatigue, oedema, may not be diagnosis of congestive heart disease.
在一项前瞻性研究中评估葡萄牙型家族性淀粉样多神经病（FAP）的心脏受累情况。
FAP是一种累及感觉、运动及自主神经的家族性多神经病，由淀粉样物质沉积于神经和血管结构所致，与转甲状腺素蛋白合成异常有关。FAP是一种进行性全身性疾病。日本型FAP相关的心肌病特征明确，但关于葡萄牙型FAP心肌病的发生及其临床和形态功能方面的研究仍存在争议。
作者研究了60名葡萄牙白种人患者，分属55个不同家庭：23名女性，年龄在27至67岁之间（平均年龄40.78±18.4岁）；37名男性，年龄在31至60岁之间（平均年龄40.8±12.8岁）。根据典型的临床症状、肌电图以及神经或肠道活检淀粉样物质呈阳性来确诊。根据神经受累的严重程度和残疾情况，将患者分为I至VI期。
所有患者均进行了临床评估、胸部X线检查、常规心电图、动态心电图（20 - 24小时）、M + 2D超声心动图和心音图检查。从85份超声心动图记录中获取形态学和功能数据；特别关注结构异常的证据、心腔内径评估、左心室质量以及收缩功能指标（左心室缩短分数、左心室射血分数、左心室收缩末期应力指数和Vcf）。
即使在疾病的最早阶段也发现了心包和心肌淀粉样浸润的提示性表现；晚期（III至VI期）患者的所有记录均异常。最常见的异常表现为：心包和心肌回声呈明亮闪烁状以及心室壁厚度增加，III至VI期85%的患者左心室质量指数增加。当Vcf与正常或降低的左心室收缩末期应力指数一起绘制时，Vcf异常增加，这可能反映了III至VI期三分之一患者存在“过度”的变力性，收缩功能从未降低，心腔也未扩大。因此，本研究指出葡萄牙型FAP存在浸润性和/或肥厚性心肌病；记录到舒张功能障碍和收缩功能降低的提示性表现。然而，在FAP的临床情况下，呼吸困难、疲劳、水肿等症状和体征可能并非充血性心脏病的诊断依据。
