# Learning objectives

• Cases of Systemic diseases with echocardiographic changes
  伴超声心动图改变的系统性疾病病例
• Recognise echocardiographic features of systemic diseases
  识别系统性疾病的超声心动图特征
• Systemic diseases that mimic each other on echocardiography
  超声心动图表现上相似的系统性疾病

# Echocardiography in Systemic Diseases

• Systemic diseases with secondary cardiac involvement are uncommon
  继发心脏受累的系统性疾病并不常见

• BUT Echocardiography can identify unique, characteristic features and echo may be the first clue to the underlying systemic illness
  但是超声心动图可以识别独特的特征，可能是发现潜在全身性疾病的第一个线索

• Cardiac Involvement in Systemic Diseases 系统性疾病中的心脏损害

  • Autoimmune 自身免疫性疾病
  • Endocrine 内分泌疾病
  • Neurological 神经病学疾病
  • Malignancy 恶性疾病
  • Amyloid / Infiltrative Disease 淀粉样变 / 浸润性疾病

# Hypereosinophilic Syndrome HES 嗜酸性粒细胞增多综合征

# Case

• 27-year-old female with 6 months dyspnoea, chest pains and fatigue.
  27 岁的女性，有 6 个月的呼吸困难、胸痛和疲劳。

• 心超如下：
  • Diastolic Function 舒张功能
    
    • Shown is the characteristic mitral Doppler inflow pattern of a restrictive cardiomyopathy pattern (A, left). ^[1]
      所示为限制性心肌病的典型二尖瓣血流频谱 (A，左)。
    • The mitral valve deceleration time is 105 ms, with a peak early inflow velocity of 1.1 m/s.
      MV Dec Time = 105 msec
      MV Emax = 1.1 m/sec
      二尖瓣减速时间为 105ms，早期峰值血流速度为 1.1m/s。
    • The mitral annular tissue Doppler (B, right) also demonstrates classic findings of a restrictive cardiomyopathy with a markedly reduced early diastolic longitudinal relaxation velocity (0.04 m/s).
      二尖瓣环状组织多普勒 (B，右) 也显示限制性心肌病的典型表现，舒张期早期纵向松弛速度显著减慢 (0.04m/s)。
      e' = 0.04 m/sec
      E/e' ≈ 28

# Cardiac Manifestations 心脏表现

• Persistent increase in eosinophil count: eosinophil count > 150 cells/mm³ or 1.5 x 10⁹/L
  嗜酸细胞计数持续增加：嗜酸细胞数 >150 /mm³ 或 1.5 x 10⁹/L

• chronic heart failure, CHF (dyspnoea)
  慢性心衰（呼吸困难）

  • Restrictive cardiomyopathy
    限制性心肌病
  • Mitral regurgitation
    二尖瓣反流

• Systemic embolisation
  全身栓塞

• Four stages 四个阶段

  1. Acute inflammatory myocarditis
     急性炎症性心肌炎
  2. Eosinophil rich thrombus deposition due to injury
     损伤引起富含嗜酸性粒细胞的血栓沉积
  3. Endocardial thickening:
     心内膜增厚
     • Valve involvement
       瓣膜受累
  4. Fibrosis
     纤维化

• 癌症、恶性肿瘤、自身免疫性疾病或寄生虫感染引起的过敏反应都可能引发这种综合征。

• 但也有很多其他疾病有类似的心超表现

• 配合其他检查：

• Hypereosinophilic Syndrome (HES) Cardiac involvement: 40-60% of patients
  40%-60% 的 HES 患者有心脏改变

• 2-D Echo & Doppler Findings
  • LV > RV inflow apical thrombo - obliteration, endocardial thickening
    LV > RV 流入端心尖出现血栓，闭塞，心内膜增厚
  • Restrictive diastolic dysfunction
    限制性舒张期功能障碍
  • Subvalvular thrombosis, leaflet entrapment MV > TV Leaflets; MR&TR
    瓣膜下血栓形成，瓣叶夹闭、MV > TV 瓣叶；二尖瓣三尖瓣反流

# Treatment 治疗

• Medical therapy
  药物治疗
  • Corticosteroids
    皮质类固醇激素
  • Hydroxyurea/Interferon
    羟基脲 / 干扰素
  • Heart failure medication
    心力衰竭药物治疗

# Echo differential diagnosis 超声鉴别诊断

• Apical HCM 心尖肥厚
• LV Non-compaction 左室心肌致密化不全
• LV tumour 左室肿瘤
  • Myxoma 粘液瘤
  • Papillary fibroelastoma 乳头状纤维母细胞瘤
• Ischaemic LV dysfunction with apical thrombus
  缺血性左心功能不全伴心尖血栓

# Systemic Lupus Erythematosus SLE 系统性红斑狼疮

# Case

• 33-year-old with multiple strokes.
  33 岁，多次中风
• ANA positive and Antiphospholipid antibodies present
  ANA 阳性和抗磷脂抗体存在
• Libman-Sacks endocarditis
  Libman-Sacks 心内膜炎，赘生物

# Disease 疾病

• SLE is a chronic, inflammatory disease with circulating Autoantibodies; activated T cells; immune complexes and inflammatory Cytokines.
  系统性红斑狼疮是一种慢性炎症性疾病，可累及多脏器，循环自身抗体、激活的 T 细胞、免疫复合体和炎性细胞因子。
• In China, prevalence 50-100 per 100, 000 (x2 European and North American countries).
  在中国，患病率为每 10 万人中有 50-100 人 (欧洲和北美国家的两倍)。
• All “layers" of the heart can be involved.
  可影响心脏的所有 “层”
• Pulmonary hypertension can also be a feature.
  肺动脉高压也是一种特征

# Cardiac Involvement 心脏受累

• Pericarditis (fluid ANA+)
  心包炎 (体液 ANA 阳性)
• Conduction abnormalities
  传导异常
• Myocarditis
  心肌炎
• Coronary arteritis
  冠状动脉炎
• Libman-Sacks (Marantic) vegetation
• Neonatal Lupus syndrome (congenital heart block).
  新生儿狼疮综合征（先天性心脏传导阻滞）

# Diagnosis 诊断

• Requirements: ≥ 4 criteria (at least 1 clinical and 1 laboratory criteria)
  要求：≥ 4 项标准（至少 1 项临床标准和 1 项实验室标准）
• OR biopsy-proven lupus nephritis with positive ANA or Anti-DNA
  或活检证实为 ANA 或抗 DNA 阳性的狼疮性肾炎

# Carcinoid Heart Disease 类癌样心脏病

# Case

• 39-year-old male with diarrhoea, flushing and weight loss.
  男，39 岁，有腹泻、面色潮红、体重减轻等症状。

# Echo Features

累及右心瓣膜

• Tricuspid Valve 三尖瓣
  • Thickened leaflets 瓣叶增厚
  • Retracted leaflets 瓣叶回缩受限
  • Fixed semi-open position. 固定半开放位置

• Pulmonary Valve 肺动脉瓣
  • Thickened cusps 瓣尖增厚
  • Retracted and rigid 回缩受限，僵硬

# Carcinoid Tumours

• Arise from the GI tract
  起源于胃肠道
• Slowly growing
  发展缓慢
• Produce vasoactive substances:
  产生血管活性物质
  - Bradykinin 缓激肽
  - Histamine 组胺
  - Serotonin 5 - 羟色胺
  - 5-HIAA 5 - 羟基吲哚乙酸，5 - 羟色胺的主要代谢物
  - Catecholamines 儿茶酚胺
  - Prostaglandins 前列腺素

• Over 50% of patients with Carcinoid Syndrome develop cardiac involvement
  超过 50% 的类癌综合征患者发生心脏损害

• Carcinoid Heart Disease: treatment of tumour does not cause regression of valve disease
  有效的肿瘤治疗并不会导致瓣膜疾病消退

• Echo findings

  • Thickening and retraction of immobile tricuspid valve leaflets
    三尖瓣瓣叶不活动，增厚、回缩
  • Severe tricuspid valve regurgitation
    重度三尖瓣反流
  • May have similar findings in pulmonic valve
    肺动脉瓣可能有类似的发现
  • Only 10-15% of cases involve left-sided valves.
    只有 10-15% 的病例涉及左侧瓣膜

# Friedreich's Ataxia 弗里德里希共济失调

# Case

• 19-year-old man with an abnormal gait, cerebellar dysarthria and areflexia.
  19 岁男性，步态异常，小脑构音障碍和反射障碍。

# Disease 疾病

• Rare Autosomal Recessive neurodegenerative disorder
  罕见的常染色体隐性神经退行性疾病
  • 1:50, 000
• Ataxia, cerebellar dysarthria, areflexia
  共济失调、小脑构音障碍、反射障碍
• Onset <20 years, relentless course
  发病年龄 < 20 岁，病程不短

# Echo features

• Symmetrical hypertrophied LV
  对称性左室肥厚
• Prominent papillary muscles
  乳头肌突出
• Absence of SAM.
  缺乏 SAM 征

# Thalassaemia 地中海贫血

# Case

• 28-year-old female requiring regular blood transfusions.
  28 岁女性，需要定期输血。

# Disease 疾病

• Think of this when you see impaired LV function or dilated chambers in patients with anaemia
  当看到贫血患者的左心功能受损或心腔扩张时，想想这一点

• Thalassemia major is a rare, genetic disease that causes severe anemia due to the inadequate production of hemoglobin.
  地中海贫血是一种罕见的遗传病，由于血红蛋白的产生不足而导致严重的贫血。
• In the absence of medical intervention, thalassemia results in death during childhood.
  在没有医疗干预的情况下，地中海贫血会导致儿童时期死亡。
• Children who are afflicted with thalassemia major require lifelong blood transfusions if they are to grow and develop to adulthood.
  患有重型地中海贫血的儿童如果要成长和发育到成年，需要终身输血。
• The unfortunate consequence of the transfusions is an inevitable progressive increase in body iron load.
  输血的不幸后果是体内铁负荷不可避免地逐渐增加。
• As there is no natural means for the body to eliminate the excessive iron, these patients inexorably develop a clinically worsening hemosiderosis.
  由于体内没有自然的方法来清除过量的铁，这些患者不可避免地发展为临床上恶化的含铁血黄素沉着症。
• The excessive iron is deposited mainly in the liver and spleen, leading to liver fibrosis and cirrhosis.
  过量的铁主要沉积在肝脏和脾脏，导致肝纤维化和肝硬化。
• The excessive iron is also deposited in the endocrine glands and the heart, resulting in diabetes, heart failure and premature death.
  过量的铁还沉积在内分泌腺和心脏中，导致糖尿病，心力衰竭和过早死亡。
• Death ultimately occurs, mainly due to cardiac hemosiderosis.
  死亡最终会发生，主要是由于心脏含铁血黄素沉着症。

• Number of deaths of patients with thalassaemia major in the UK by intervals. 英国不同时期的重型地中海贫血患者死亡人数。
  • Iron overload replaced anaemia as the commonest cause of death after 1970, when adequate transfusion schemes became the norm.
    1970 年后，铁超负荷取代贫血成为最常见的死亡原因，当时足量输血的治疗方案成为常态。
  • Iron chelation therapy by subcutaneous infusion of deferoxamine was standard practice after 1980.
    通过皮下输注去铁胺进行铁螯合治疗是 1980 年后的标准做法。
  • In 1999, T2* CMR was introduced in the UK, and doctors caring for thalassemia patients were informed of the high cardiac death rate and new options for iron chelation therapy.
    1999 年，英国引入了 T2 * CMR，告知医生地中海贫血患者的高心源性死亡率和铁螯合疗法的新选择。
  • There has been a 71% reduction in the annualized death-rate from iron overload since 2000.
    自 2000 年以来，铁超载导致的年化死亡率下降了 71%。

• Diagnosis is critical as REVERSIBLE with chelation therapy:
  诊断至关重要，因为使用螯合疗法，疾病是可逆的：
  • 20, 000 Thalassaemia births in China per year
    中国每年有 2 万名地中海贫血症新生儿出生
  • Most common hereditary red blood cell disease in China
    中国最常见的遗传性红细胞疾病
  • CMR with T2* able to quantify accurately myocardial iron content
    具有 T2 * 的 CMR 心脏磁共振能够准确量化心肌铁含量
  • Ferritin levels inaccurate
    铁蛋白水平不准确
• Normal wall thickness
  室壁厚度正常
• Arrhythmias, conduction abnormalities
  可有心律失常，传导异常

血色病

# Treatment

# Amyloidosis 淀粉样变

# Case

• 75-year-old male with dyspnoea and peripheral oedema.
  75 岁男性，伴有呼吸困难和外周水肿。

# Mimickers of Amyloid 类似淀粉样变

• 淀粉样变的超声表现可见于
  • Friedrich's Ataxia 弗里德里希共济失调
  • Fabry's Disease 法布里病
  • Hypertrophic Cardiomyopathy 肥厚型心肌病
  • Renal Failure 肾衰竭
  • Hydroxychloroquine-induced Cardiotoxicity
    羟氯喹引发的心脏毒性