Fonseca C, Cardim N, Morais H, Ferreira T, Pereira A T, Luís M L, Luís A S, Ceia F, Correia J M
Serviço de Cardiologia do Hospital Pulido Valente.
Rev Port Cardiol. 2000 Apr;19(4):477-81.
TTR Met30 Familial Amyloidotic Polyneuropathy of the Portuguese type (FAP) is an incapacitating and lethal hereditary disorder that affects predominantly young adults of both genders. Portuguese type FAP patients have sensory, motor and autonomic polyneuropathy. The generalised systemic amyloid infiltration involves the heart, leading to the characteristic granular bright sparkling echocardiographic pattern. LV wall thickening occurs in the late phases of the disease. LV diastolic dysfunction has been reported in the absence of systolic dysfunction; an abnormal diastolic transmitral flow pattern assessed by pulsed wave Doppler (PW) was described. PW is very much dependent on load conditions. Tissue Doppler imaging (TDI) has been used as a more reliable method to assess long axis diastolic function.
1--To identify the incremental value of TDI in the assessment of diastolic function in FAP. 2--To correlate diastolic pattern abnormalities and left ventricular mass index (LVMI) in FAP patients.
We performed a prospective evaluation of 24 consecutive FAP patients and selected 14 (sinus rhythm, age < 45 years). Diastolic function was assessed by PW and classified as normal (GI-E/A > 1) or abnormal (GII-E/A < 1). TDI was performed in 4 sites of the mitral annulus (septum, lateral, inferior, anterior). Velocities of the rapid filling wave (E') and atrial contraction wave (A') were measured and E'/A' calculated. In each site we considered the TDI as normal (E'/A' > 1) or abnormal (E'/A' < 1). The LVMI was calculated by Devereux's formula.
Age, gender and heart rate were similar in both groups. TDI at the septal mitral annulus was normal in all of the GI patients (E'/A': 1.29 +/- 0.19) and suggestive of abnormal LV relaxation in all of the GII patients (E'/A': 0.82 +/- 0.11, p < 0.0001). TDI revealed abnormal diastolic pattern when a restricted number of sites of the mitral annulus were assessed, even in GI patients and before PW abnormalities occurred. Fractional shortening (FS) and LVMI were similar in GI and GII (FS-GI: 45.5 +/- 5.3, GII 43.5 +/- 8.1%, p: NS; LVMI--GI: 66 +/- 9.3, GII: 67 +/- 3.0 g/m2 p: NS).
The assessment of mitral annulus motion has introduced new data in the study of diastolic function of FAP patients. An abnormal LV relaxation pattern occurred early in the evolution of the disease in patients with normal LVMI and systolic function.
转甲状腺素蛋白（TTR）Met30型葡萄牙型家族性淀粉样多神经病（FAP）是一种使人丧失能力且致命的遗传性疾病，主要影响年轻的成年男女。葡萄牙型FAP患者存在感觉、运动和自主神经多神经病。全身性淀粉样蛋白浸润累及心脏，导致特征性的颗粒状明亮闪烁超声心动图表现。左心室壁增厚发生在疾病晚期。已有报道称在无收缩功能障碍的情况下存在左心室舒张功能障碍；描述了通过脉冲波多普勒（PW）评估的异常舒张期二尖瓣血流模式。PW非常依赖负荷条件。组织多普勒成像（TDI）已被用作评估长轴舒张功能的更可靠方法。
我们对24例连续的FAP患者进行了前瞻性评估，并选择了14例（窦性心律，年龄<45岁）。通过PW评估舒张功能并分类为正常（GI-E/A>1）或异常（GII-E/A<1）。在二尖瓣环的4个部位（间隔、侧壁、下壁、前壁）进行TDI。测量快速充盈波（E'）和心房收缩波（A'）的速度并计算E'/A'。在每个部位，我们将TDI视为正常（E'/A'>1）或异常（E'/A'<1）。通过Devereux公式计算LVMI。
两组患者的年龄、性别和心率相似。所有GI组患者二尖瓣环间隔处的TDI均正常（E'/A'：1.29±0.19），所有GII组患者均提示左心室舒张异常（E'/A'：0.82±0.11，p<0.0001）。即使在GI组患者中以及PW异常出现之前，当评估二尖瓣环的部位数量有限时，TDI也显示出舒张模式异常。GI组和GII组的缩短分数（FS）和LVMI相似（FS-GI：45.5±5.3，GII 43.5±8.1%，p：无显著性差异；LVMI-GI：66±9.3，GII：67±3.0 g/m2，p：无显著性差异）。
二尖瓣环运动的评估为FAP患者舒张功能的研究引入了新的数据。在LVMI和收缩功能正常的患者中，疾病进展早期就出现了左心室舒张模式异常。
