Updated: 2/25/2018

Eisenmenger Syndrome

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Snapshot
  • A 26-year-old man presents to his cardiologist for exercise intolerance and blue discoloration of the lips and fingernails. He also reports occasionally coughing up blood. He reports having been diagnosed with a congenital heart defect when he was young but was lost to follow-up after moving cities. A Doppler echocardiogram shows a ventricular septal defect, right ventricular hypertrophy, and elevated pulmonary vascular resistance.
Introduction
  • Clinical definition
    • uncorrected left-to-right shunting, often caused by a congenital heart defect, leading to pulmonary arterial hypertension (PAH) and right ventricular hypertrophy (RVH)
  • Epidemiology
    • risk factors
      • congenital heart defect
  • Etiology
    • ventricular septal defect
    • atrial septal defect
    • patent ductus arteriosus
  • Pathogenesis
    • left-to-right shunting from a congenital heart defect can cause increased pulmonary blood flow
      • irreversible changes in the pulmonary vasculature → PAH
        • normal pulmonary artery pressures are 10-14 mm Hg
        • pulmonary hypertension occurs when pressures are > 25 mmHg
    • RVH develops in compensation → shunting reverses to become right-to-left → cyanosis and respiratory distress
    • clinically, this results in secondary erythrocytosis, thrombocytopenia, and immune dysfunction
  • Prognosis
    • age of onset depends on type and severity of the defect
    • can present as early as childhood
    • death can result from decompensated cor pulmonale
Presentation
  • Symptoms
    • shortness of breath
    • syncope
    • chest pain
    • hemoptysis
    • exercise intolerance
  • Physical exam
    • edema
    • cyanosis of lips, oral mucosa, or extremities
    • cardiac exam
      • high-pitched early diastolic murmur
        • pulmonary insufficiency
      • jugular venous distension
      • loud pulmonary component of S2 sound
    • clubbing of extremities
    • peripheral edema
Imaging
  • Radiography
    • indication
      • performed to exclude lung diseases
    • views
      • chest
    • findings
      • right ventricular enlargement
      • dilated pulmonary arteries
      • loss of peripheral blood vessels
      • increased hilar vasculature markings
  • Doppler echocardiography
    • indications
      • for all patients
      • to estimate pulmonary pressures
    • findings
      • visualization of shunt
Studies
  • Labs
    • complete blood count
      • ↑ hematocrit and hemoglobin
      • ↓ MCV
    • iron studies
      • ↑ TIBC
      • ↓ serum ferritin
      • ↓ Fe2+
  • Electrocardiogram (ECG)
    • findings
      • right heart hypertrophy
  • Right heart catheterization
    • indication
      • to confirm the diagnosis
    • findings
      • mean pulmonary arterial pressure at least 25 mmHg at rest
  • Making the diagnosis
    • based on clinical presentation and imaging
Differential
  • Interstitial lung disease causing pulmonary hypertension
    • distinguishing factor
      • chest radiograph typically shows signs of interstitial fibrosis, such as a honeycomb or cystic appearance
Treatment
  • Management approach
    • includes pulmonary vasodilatory therapy, management of erythrocytosis, and management of complications
  • Conservative
    • avoid overexertion with physical activities
      • indication
        • all patients
  • Medical
    • diuretics
      • indication
        • patients with signs of right heart failure and fluid retention
    • vasodilatory therapies
      • indication
        • for patients with PAH
      • drugs
        • endothelin receptor antagonists
          • bosentan
          • ambrisentan
        • phosphodiesterase inhibitors
          • tadalafil
          • sildenafil
  • Operative
    • lung and heart transplant
      • indication
        • end-stage disease refractory to medical management
Complications
  • Heart failure
  • End-organ damage from hyperviscosity of erythrocytosis
 

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Questions (1)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
Calculator

(M1.CV.116) A 27-year-old woman with a history of a "heart murmur since childhood" presents following a series of syncopal episodes over the past several months. She also complains of worsening fatigue over this time period, and notes that her lips have begun to take on a bluish tinge, for which she has been using a brighter shade of lipstick. You do a careful examination, and detect a right ventricular heave, clubbing of the fingers, and 2+ pitting edema bilaterally to the shins. Despite your patient insisting that every doctor she has ever seen has commented on her murmur, you do not hear one. Transthoracic echocardiography would most likely detect which of the following? Review Topic

QID: 100632
1

Aortic stenosis

0%

(0/7)

2

Mitral insufficiency

0%

(0/7)

3

Positive bubble study

71%

(5/7)

4

Ventricular aneurysm

0%

(0/7)

5

Dynamic left ventricular outflow tract obstruction

29%

(2/7)

M1

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