Contents

Search

Eisenmenger's syndrome

A congenital anomaly consisting of left to right cardiac shunt, pulmonary hypertension, & right ventricular hypertrophy. Etiology: 1) patent ductus arteriosus 2) ventricular septal defect 3) atrial septal defect (pulmonary hypertension infrequent) [3] Pathology: 1) large left to right cardiac shunt producing pulmonary hypertension & irreversible pulmonary vascular disease 2) pulmonary hypertension causes left to right shunt to reverse so that blood flows from right to left, resulting in cyanotic heart disease 3) compensatory erythrocytosis develops 4) death commonly occurs in 3rd or 4th decade of life Clinical manifestations: 1) symptoms develop during the 1st few years of life 2) cyanosis of lower extremities 3) clubbing of toes 4) dyspnea 5) exercise induced syncope 6) arrhythmia 7) systolic murmur heard best at 4th left intercostal space - initially loud, but diminishes in intensity when shunt reverses from left->right to right->left 8) accentuated P2 heart sound 9) ejection click 10) accentuated precordial thrust of right ventricle Laboratory: 1) complete blood count a) erythrocytosis b) normal blood hemoglobin in patients with cyanotic heart disease is 18-20 g/dL c) normal hematocrit is 60-65% 2) iron studies if relative anemia - iron deficiency if repetitively phlebomotomized - menorrhagia can also result in iron deficiency Special laboratory: 1) electrocardiogram: a) right axis deviation b) right ventricular hypertrophy c) right atrial enlargement 2) cardiac catheterization Radiology: 1) chest X-ray a) enlarged pulmonary arteries b) decreased pulmonary vascularity c) right ventricular enlargement 2) echocardiography Complications: - right heart failure - hemoptysis - stroke Management: 1) phlebotomy a) avoid phlebotomy if possible b) leads to iron deficiency c) iron-deficient erythrocytes are more rigid increasing risk of stroke d) phlebotomy may be necessary in patients with hemoglobin > 20 g/dL & hematocrit > 65% with symptoms of hyperviscosity) - correct volume depletion prior to decision for phlebotomy - replace fluid concomittantly with phlebomtomy - hypotension or syncope may be fatal 2) treat iron deficiency with short course of iron until serum ferritin & transferrin saturation normalize [3,5] 3) no proven benefit to increasing supplemental oxygen in patients with cyanotic heart disease [8] 2) pulmonary vasodilation therapy (see pulmonary hypertension) - bosentan 3) surgery - large VSD with left to right shunt & pulmonary hypertension should not be surgically closed - clinical deterioration will result - heart or heart-lung transplantation [3] - patients are generally not surgical candidates 4) avoid pregnancy: a) peripartum maternal mortality is high b) right of maternal mortality is 30-50% [3] 5) intravenous access - use air filters to prevent paradoxical air embolism* [3] 6) special considerations for air travel - pressurized cabin - consider supplemental oxygen - pulse oximetry - hypoxia altitude simulation ting * patients with cardiac right to left shunt at risk for paradoxical air embolism [3]

Related

atrial septal defect (ASD) patent ductus arteriosus ventricular septal defect

General

congenital heart disease; congenital cyanotic heart disease syndrome

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 388. 881
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 46-47
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018.
  4. Dimopoulos K, Inuzuka R, Goletto S et al Improved survival among patients with Eisenmenger syndrome receiving advanced therapy for pulmonary arterial hypertension. Circulation. 2010 Jan 5;121(1):20-5 PMID: 20026774
  5. Tay EL, Peset A, Papaphylactou M et al Replacement therapy for iron deficiency improves exercise capacity and quality of life in patients with cyanotic congenital heart disease and/or the Eisenmenger syndrome. Int J Cardiol. 2011 Sep 15;151(3):307-12 PMID: 20580108
  6. Srinivas SK, Manjunath CN. Differential clubbing and cyanosis: classic signs of patent ductus arteriosus with Eisenmenger syndrome. Mayo Clin Proc. 2013 Sep;88(9):e105-6. PMID: 24001503
  7. D'Alto M1, Romeo E, Argiento P et al Bosentan-sildenafil association in patients with congenital heart disease-related pulmonary arterial hypertension and Eisenmenger physiology. Int J Cardiol. 2012 Mar 22;155(3):378-82 PMID: 21081251
  8. NEJM Knowledge+