Eisenmenger Syndrome

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Contents

General Epidemiology about Birth Defects

  • About 120,000 babies (1 in 33) in the United States are born each year with birth defects (most common is Down’s syndrome)
  • ~ 1% (8 / 1000) live births have Congenital heart disease
  • > 1 million American adults
  • > 1 million American children

Different types of Congenital Heart Disease

  • VSD (most common anomaly: 20-25% of all Congenital heart disease
  • ASD: 5-10% (most common adult lesion)
    • Ostium primum: lower part of atria: closer to the valves (usu MV)
    • Ostium secundum
    • Sinus venosus
  • Patent Ductus Arteriosus (PDA) - 10% of all Congenital heart disease [PDA is a connection between the aorta and the pulmonary artery: (Normally this closes within a few hours of birth)]
  • Atrioventricular canal defect (AV canal) - a complex heart problem that involves several abnormalities of structures inside the heart, including an ASD, VSD, and improperly formed mitral and/or tricuspid valves.
  • Total or partial anomalous pulm venous return
  • Truncus arterious (only one artery arises from the heart and forms the aorta and pulmonary artery)
  • Single ventricle
  • Transposition of the great arteries (1900 / year): 4%
  • Tetralogy of Fallot: is characterized by VSD, overriding aorta, RVH, pulmonary stenosis (6%)
  • Coarctation of the aorta: 7%
  • Aortic Stenosis: 6%

Background

  • In 1897, Dr Victor Eisenmenger (Austrian) reported the case of a 32-yo ♂: exercise intolerance, cyanosis, HF, and hemoptysis prior to death.
  • Autopsy showed a large VSD and overriding aorta.
  • This was the first description of a link between a large congenital cardiac shunt defect and the development of pulmonary hypertension.

Pathophysiology

  1. An underlying heart defect that allows blood to pass between the left and right sides of the heart.
  2. Pulmonary hypertension
  3. Polycythemia
  4. Reversal of the shunt

(Eisenmenger syndrome constituted 8% of all congenital heart disease in 1950’s, but because of early detection and treatment of cardiac defects, its incidence dropped down to 4%.


Sequence of events in Eisenmenger syndrome

  1. Congenital left to Right shunt
  2. Increased flow and pressure in the pulm vasculature
  3. Pulmonary capillary destruction / scarring and pulmonary arteries thickening and endothelial dysfunction
  4. Increased pulm artery pressure
  5. RV hypertrphy (…ischemia / arrhythmia)
  6. Increased RV pressure à more than LV pressure
  7. Reversal of shunt from Rt à Lt…… Cyanosis …Polycythemia …..hyperviscosity …. CVA / PE

Morphologic changes of pulmonary artery vasculature include:

  • Initial morphologic alterations (potentially reversible) are:
    • Medial hypertrophy
    • Intimal proliferation and fibrosis
    • Occlusion of cappilaries and small arterioles
  • Advanced irreversible changes:
    • Plexiform lesions
    • Necrotizing arteritis
  • Result = obliteration of much of the pulmonary vascular bed  ↑ Pulmonary vascular resistance

Symptoms

  • Dyspnea on exertion (most common symptom)
  • Palpitations:
    • Afib / flutter: 35%
    • V-tach 10%
  • Fluid overload
  • Chest pain, syncope (due to ↓ Cardiac output or arrhythmia), fatigue
  • Cyanosis
  • Erythrocytosis (2˚ to hypoxia)  hyperviscosity (fatigue, h/a, visual disturbances, dizziness, and paresthesias)
  • Hemoptysis (due to pulmonary infarction or rupture of dilated pulmonary vessels)
  • Cholelithiasis, nephrolithiasis
  • Hypertrophic arthropathy
  • Slowed mentation / Decreased alertness
  • Irritability

Physical exam

  • Cyanosis
  • Clubbing
  • Arterial pulses are small in volume
  • Jugular venous pulse wave may be A-wave dominant. However, with tricuspid regurgitation, the V wave may be prominent.
  • Precordial palpation reveals a right ventricular heave and, frequently, a palpable S2.
  • Loud P2
  • High-pitched early diastolic murmur of pulmonic insufficiency
  • Right-sided fourth heart sound
  • Pulmonary ejection click
  • A fixed, widely split S2 is characteristic of an ASD pansystolic murmur of tricuspid regurgitation.
  • The murmur of ASD or VSD, and the continuous murmur of a PDA disappear when Eisenmenger physiology develops; a short systolic murmur may remain audible
  • Respiratory signs include cyanosis and tachypnea. (usu clear lungs)
  • Hematologic signs include bruising and bleeding; funduscopic abnormalities related to erythrocytosis include engorged vessels, papilledema, microaneurysms, and blot hemorrhages.
  • Abdominal signs include jaundice, right upper quadrant tenderness, and positive Murphy sign (acute cholecystitis).
  • Vascular signs include postural hypotension and focal ischaemia (paradoxical embolus).
  • Musculoskeletal signs include clubbing, tenderness over the metacarpal or metatarsal joints (hypertrophic osteoarthropathy), and joint effusions.

EKG

  • Peaked P waves
  • RVH
  • RAD
  • +/- atrial arrhythmias

Diagnosis

  • Echo with Doppler ultrasound can diagnose the direction of the shunt
  • Cardiac catheterization with ‘step up’ oxygen measurements

Therapy

  • In early childhood, surgical intervention can repair the heart defect, preventing most of the pathogenesis of Eisenmenger's syndrome.
  • If treatment has not taken place, heart-lung transplant is required to fully treat the syndrome.
  • If this option is not available, then Eisenmenger syndrome is treated just like any other pulmonary arterial (aka primary or pre-capillary) hypertension. This treatment is usually includes prostacyclines (prototype is Epoprostenol), endothelin recptor antagonists ( Bosentan or Ambrisentan), PDE5 inhibitors (prototype is sildenafil), in addition to anticoagulation.
  • Antibiotic prophylaxis to prevent endocarditis and phlebotomy to treat polycythemia may also indicated.Antibiotic prophylaxis to prevent endocarditis and phlebotomy to treat polycythemia may also indicated.

Causes of death

  • Sudden Cardiac Death (30%)
  • Heart failuire (25%)
  • Hemoptysis (15%)
  • Pregnancy, peri-op, & infections (brain abscess or endocarditis): (~25-30%)

Take home message

  • Best tx is detection of shunt early, and prevention of reversal of shunt.
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