Show notes
Eisenmenger syndrome is an end-stage complication of congenital heart disease that occurs when a left to right shunt causes pulmonary over-circulation, leading to vascular remodeling, increased vascular resistance, and ultimately even shunt reversal. Aside from cardiac complications, this pathology has unique complications secondary to chronic cyanosis. In this episode of CardioNerds co-founder Dr. Amit Goyal, ACHD series co-chair Dr. Josh Saef, and Dr. Khaled Tuwairqi (ACHD cardiologist at King Faisal / Elite Hospitals) join Dr. Alexander (Sasha) Optowsky (Director of the Adult Congenital Heart Disease Program at Cincinnati Childrens) to discuss diagnosis and management of Eisenmenger syndrome. Show notes were drafted by Dr. Anna Scandinaro and episode audio was edited by CardioNerds Academy Intern Dr. Akiva Rosenzveig.
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Pearls - Eisenmenger Syndrome
First described in 1897 by Victor Eisenmenger, Eisenmenger syndrome is a long-term complication of unrepaired left to right shunts, resulting from pulmonary vascular remodeling and pulmonary hypertension. This eventually leads to reversal of the shunt, with right to left flow causing cyanosis.
Evaluation for Eisenmenger syndrome should include a comprehensive history, physical exam, ECG, echocardiogram, cardiac catheterization, and laboratory work to identify multi-system complications of cyanosis and secondary erythrocytosis.
The most definitive means to diagnose Eisenmenger syndrome in a patient with a prior left-to-right shunt lesion is with a right heart cardiac catheterization showing right to left shunting (Qp:Qs L shunt causing cyanosis), may mimic Eisenmenger syndrome. Their management and natural history differ from Eisenmenger syndrome and can be reversed with treatment.
3. How should one initiate a workup for Eisenmenger syndrome?
History - ask about symptoms of dyspnea, decreased exercise tolerance, and cyanosis. It is important to establish a detailed surgical history.
Physical exam - specifically assess for the presence (or absence) of a murmur, loud P2 suggestive of pulmonary hypertension, and differential cyanosis (suggestive of PDA – hint see Episode 263 for more information on PDAs and Eisenmenger syndrome). Additional Pearl: take blood pressure on opposite side of a BTT shunt, as a BTT can affect the BP!
EKG - look for evidence of right ventricular hypertrophy: RAD, RVH.
CXR - may show prominent pulmonary trunk.
Laboratory evaluation - should include CBC, iron panel, uric acid, CMP, and BNP to evaluate for signs of secondary erythrocytosis.
Echocardiogram - define the anatomy, calculate right ventricular systolic pressure, pulmonary artery diastolic pressure from pulmonary regurgitation jet, and flow across RVOT and LVOT for estimate of Qp/Qs.
Cardiac cath - measure pressures and saturations, calculate Qp/Qs, assess response to vasodilator challenge, calculate CO by Fick (not thermodilution assumptions for thermodilution are not met with shunts), and rule out mimics.
Remember: You must have had a right heart cardiac catheterization to diagnose someone with Eisenmenger syndrome. When reviewing external data, it is always important to interpret the primary data yourself to ensure the right diagnosis and management.
4. What are some multi-organ complications that can be seen in Eisenmenger syndrome secondary to cyanosis and secondary erythrocytosis (kidney's response to cyanosis)?
Gout due to over production and decreased excretion of uric acid
Bilirubin gallstones due to high RBC turnover
Stroke due to paradoxical emboli
Paraglioma/pheochromocytoma due to mutations in the hypoxia pathway – VHL, succinate dehyrdrogenase, hypoxia inducible factor- curable cause of deterioration, should be investigated for in a patient with Eisenmenger syndrome and hypertension
Thrombophilia
Retinal changes
Hypertrophic osteoarthropathy
Kyphoscolisosis.
5. What is a life-threatening emergency that should be considered if a patient with Eisenmenger syndrome presents with neurologic symptoms? How about hemoptysis?
In a patient with Eisenmenger syndrome presenting with neurologic symptoms there should be a high index of suspicion for cerebral abscess. Chronic hypoxemia leads to secondary erythrocytosis leading to hyperviscosity in the central venous blood, this causes a favorable environment for bacterial growth.
Hemoptysis is not uncommon in this population and is a life threatening complication of Eisenmenger syndrome which requires a broad but direct differential to treat emergent cases quickly. The differential diagnosis includes pulmonary infections (Eisenmenger syndrome can cause decreased immune function), pulmonary vasoocclusive disease, aorto-pulmonary collaterals, as well as pulmonary artery in-situ thrombosis. Obtaining a Chest CTA is a high yield clinical tool to help establish this diagnosis. Interventional colleagues will be instrumental in treatment of many of these complications. Hemoptysis and iatrogenic surgical death used to be a high cause of mortality; this has decreased in recent years.
6. What steps can be taken to minimize operative risk in patients with Eisenmenger syndrome? Do we use routine phlebotomy in this population?
Surgery should be performed with an experienced cardiac anesthesiologist. Operative risk in Eisenmenger syndrome is lower than in pulmonary arterial hypertension as patients with Eisenmenger syndrome are able to increase their cardiac output by increasing right to left shunting at the expense of their oxygenation. Bubble filters should be used as available to minimize risk of air and paradoxical embolism. For non-urgent operations, exchange transfusions before surgery can improve clotting function. Coagulations labs are affected by high hematocrit (less plasma = fewer clotting factors); you will need to adjust citrate in the tube for an accurate PT/PTT.
Routine phlebotomy is no longer used in this population in the absence of moderate to severe hyperviscosity symptoms. Instead, the focus has shifted to iron deficiency. Repleting iron can improves symptoms of hyperviscosity, increases exercise capacity, and reduces stroke risk.
7. What is “Treat to Close” and should it be used in Eisenmenger syndrome?
The new area of “Treat to Close” is an evolving area without much data to support its practice. There is a need for randomized clinical trials and further investigation to clarify its use. Indications for shunt closure can be found in the 2018 AHA/ACC and the 2020 ESC Guidelines for the Management of Adults with Congenital Heart Disease. It is contraindicated to close a shunt when Eisenmenger syndrome has developed.
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