Echocardiographic findings in subjects with an amyloidogenic apolipoprotein A1 pathogenic variant,Amyloid

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Echocardiographic findings in subjects with an amyloidogenic apolipoprotein A1 pathogenic variant
Amyloid ( IF 5.5 ) Pub Date : 2023-03-29 , DOI: 10.1080/13506129.2023.2190003
Daniela Tomasoni _{1,

2} , Alberto Aimo _{3,

4} , Marianna Adamo _{1,

2} , Matilde Nardi _{1,

2} , Carlo Mario Lombardi _{1,

2} , Valentina Regazzoni ₅ , Maria Grazia De Angelis _{1,

2} , Iacopo Fabiani _{1,

2} , Giampaolo Merlini ₆ , Roberta Mussinelli ₆ , Laura Obici ₆ , Giorgia Panichella ₃ , Giuseppe Vergaro _{3,

4} , Claudio Passino _{3,

4} , Francesco Scolari ₇ , Stefano Perlini ₆ , Michele Emdin _{3,

4} , Marco Metra _{1,

2}

Affiliation

Abstract

Background

Very small case series of patients with apolipoprotein A1 (ApoA1) amyloidosis are available.

Methods

We described the clinical and echocardiographic characteristics of individuals with the pathogenic APOA1 variant Leu75Pro (p. Leu99Pro), referred for cardiac screening.

Results

We enrolled 189 subjects, 54% men, median age 55 years (interquartile range 42–67), 39% with concomitant renal disease and 31% with liver disease. Median left ventricular ejection fraction was 60% (55–66). Overall, these subjects did not show overt diastolic dysfunction nor left ventricular (LV) hypertrophy. Age correlated with interventricular septal (IVS) thickness (r = 0.484), LV mass index (r = 0.459), E/e’ (r = 0.501), and right ventricular free wall thickness (r = 0.594) (all p < 0.001). Some individuals displayed red flags for cardiac amyloidosis (CA), and 14% met non-invasive criteria for CA. Twenty-nine subjects died over 5.8 years (4.1–8.0), with 10 deaths for cardiovascular causes. Individuals meeting echocardiographic criteria for CA had a much higher risk of all-cause death (p = 0.009), cardiovascular death (p = 0.001), cardiovascular death or heart failure (HF) hospitalisation (p < 0.001). Subjects with both renal and liver involvement had a more prominent cardiac involvement, and shortest survival.

Conclusions

Subjects with the APOA1 Leu75Pro variant displayed minor echocardiographic signs of cardiac involvement, but 14% met echocardiographic criteria for CA. Subjects with suspected CA had a worse outcome.

中文翻译：

具有淀粉样变性载脂蛋白 A1 致病性变异的受试者的超声心动图检查结果

摘要

背景

载脂蛋白 A1 (ApoA1) 淀粉样变性患者的病例系列非常少。

方法

我们描述了携带致病性APOA1变异 Leu75Pro (p. Leu99Pro) 的个体的临床和超声心动图特征，这些个体被转介进行心脏筛查。

结果

我们招募了 189 名受试者，其中 54% 为男性，中位年龄 55 岁（四分位距 42-67），39% 患有肾脏疾病，31% 患有肝脏疾病。左心室射血分数中位数为 60% (55–66)。总体而言，这些受试者没有表现出明显的舒张功能障碍或左心室（LV）肥厚。年龄与室间隔 (IVS) 厚度 ( r = 0.484)、左心室质量指数 ( r = 0.459)、E/e' ( r = 0.501) 和右心室游离壁厚度 ( r = 0.594) 相关（所有p < 0.001 ）。一些人表现出心脏淀粉样变性 (CA) 的危险信号，14% 的人符合 CA 的非侵入性标准。29 名受试者在 5.8 年（4.1-8.0）内死亡，其中 10 名受试者死于心血管原因。符合 CA 超声心动图标准的个体全因死亡 ( p = 0.009)、心血管死亡 ( p = 0.001)、心血管死亡或心力衰竭 (HF) 住院 ( p < 0.001)的风险要高得多。肾脏和肝脏同时受累的受试者心脏受累更明显，且生存期最短。