A middle aged man w/ Downs syndrome, unrepaired complete AV canal defect now w/ Eisenmenger’s syndrome c/b polycythemia presents with one episode of chest pain. Given the congenital abnormalities + polycythemia, the patient was at high risk for PE (embolism or in-situ), coronary artery compression (due to PA enlargement or elevated PA pressures) or coronary emboli – he was ruled out for these as well as ACS and ultimately discharged with a ziopatch to rule out arrhythmia.
*Teaching points
1) If a patient with an unrepaired endocardial cushion defect survives and develops Eisenmenger’s (shunt reversal to R -> L), they may be cyanotic but are at least protected from sudden worsening of R sided pressures and right heart failure. They’ve reached an equilibrium of pressures and are no longer candidates for repair.
2) Patients w/ endocardial cushion defect + shunt reversal have polycythemia/erythrocytosis (to compensate for chronic hypoxia) and thickened pulmonary artery walls.
Because of this pathophysiology, they are at risk for:
embolic complications
-pulmonary embolism
-in-situ pulmonary thrombus
-hemoptysis
-coronary artery emboli
-stroke
-infected cerebral aneurysm/abscess
other complications
-coronary compression (due to enlarged or very high pressure PA)
-atrial arrhythmias
-ventricular arrhythmias*
Kaiser SF Internal Medicine Residency Blog 