Overview Snapshot A 32-year-old man who showed exercise intolerance, cyanosis, heart failure, and hemoptysis prior to death is found to have a large congenital cardiac defect on autopsy. Introduction Eisenmenger's syndrome consists of pulmonary hypertension RVH reversal of left-to-right shunt Physiology inability to increase pulmonary blood flow under physiologic stress Epidemiology usually develops before puberty can occur in late adolescence or early adulthood Causes include congenital cardiac defects, left untreated ASD VSD surgically-created extracardiac left-to-right shunts Presentation Symptoms commonly presents with exercise intolerance shortness of breath fatigue/lethargy presyncope/syncope accompanied by other heart failure symptoms less common symptoms include erythrocytosis easy bleeding cholelithiasis nephrolithiasis Physical exam ischemia central cyanosis clubbing heart ascultation right ventricular heave single, palpable S2 high-pitched early diastolic murmur indicative of pulmonary insufficiency right-sided S4 may not have discernable ASD or VSD murmurs fade as shunt reverses other signs include tachypnea bruising bleeding jaundice joint effusions gout conjunctival injection retinal hyperviscosity Evaluation Imaging Echocardiogram is diagnostic locates the cardiac defect responsible for the shunt visualizes the left-to-right blood flow via color Doppler imaging CXR right-sided enlargement signs of pulmonary hypertension dilated pulmonary artery increased hilar vascular markings pruned peripheral vessels EKG right heart hypertrophy right QRS axis deviation tall, monophasic R wave iin V1 deep S-wave in V6 Laboratory ABG reduced resting PaCO2 reduced PaO2 mixed respiratory and metabolic acidosis CBC increased hematocrit/hemoglobin decreased MCV CHEM conjugated hyperbilirubinemia increased uric acid increased urea increased creatinine Iron studies decreased Fe reduced serum ferritin elevated TIBC Differential Primary pulmonary hypertension, other forms of secondary pulmonary hypertension, tetralogy of Fallot Treatment Pharmacologic Pulmonary vasodilatory therapy Operative Heart-Lung transplant indicated when repair of underlying cardiac defect is not possible Corrective surgery indicated in cases of significant degree of left-to-right shunt when responsiveness to pulmonary vasodilatory therapy has been demonstrated correcting underlying cardiac defect not recommended otherwise Bilateral lung transplant indicated when cardiac defect is small and operable Manage erythrocytosis Endocarditis prophylaxis Manage thrombotic and bleeding complications Prognosis, Prevention, and Complications Prognosis poor often irreversible Prevention only possible prior to development of shunt reversal correct the underlying cardiac defect (VSD, ASD, tetralogy of Fallot) Complications Significant changes in fluid balance can exacerbate symptoms especially pregnancy repeated phlebotomy can lead to further iron deficiency