Eisenmenger Syndrome with Ventricular Septal Defect

A 43 year old woman presenting with small volume hemoptysis, her third episode in 6 months. No sycope, no chest pain, no dypnea. She had multiple episodes of congestive heart failure as an infant, but improved in childhood. Her fingers were clubbed from earliest memory. She was told not to exercise vigorously as a child and counseled against pregnancy in adulthood. She can climb one flight of stairs but not further without resting. She has never had surgery or percutaneous cardiac interventions. 

This petite woman had reddish-purple discoloration of her fingertips and palms, cheeks and nose. BP 103/66, HR 122, Temp 100.1, O2 saturation on room air 68%, increasing to 79% on 100% non-rebreather mask. Oropharynx deep red-purple. Back without scoliosus. Chest symmetric and clear. Neck veins 6 cm above the sternal angle of Louis at 60 degrees, with prominent 'a' wave. Prominent left and right ventricular impulses. Regular rhythm. Normal S1, persistently split S2 with loud P2 component. 2/6 systolic crescendo-decresendo murmur at left upper sternal border. _ long blowing high intensity diastolic murmur, best heard at the mid left sternal border. Severe clubbing of extremities. Normal creatinine, Hgb 16.8, Hct 50.5, platelets 86, MCV 92. Normal PT,PTT. 


Studies
ECG
CXR
Transthoracic echo: RV syst. press. = 122, PA diast. = 46
TEE
CT
Outcome
She was observed, and had no further hemoptysis. VS stabilized. She is being considered for lung or heart/lung transplantation. 



Keys to clinical management:



1. Congestive heart failure as an infant with subsequent improvement is often the history in patients with a large, non-restrictive, ventricular septal defect (VSD). The magnitude of the left to right flow in patients with a VSD depends on the relative resistances of the pulmonary and systemic vascular beds. In infancy and early childhood pulmonary vascular resistance is low; the shunt flow is left to right and total pulmonary flow is increased. The left ventricle fails due to volume demands. As pulmonary vascular resistance rises, the shunt becomes bi-directional. The volume load on the left ventricle is alleviated, but cyanosis ensues. 
2. Pregnancy in Eisenmenger syndrome is contraindicated. The mortality risk to the mother remains 30 to 50% in experienced centers. Death may occur during pregnancy but the risk is highest from labor and delivery through two weeks postpartum: maternal death occurs a mean of 5 days after delivery. 

3. Hemoptysis occurs between the age of 20 and 40. Hemoptysis in Eisenmenger syndrome is usually caused by thrombosis in situ or embolism from a pulmonary artery thrombus. Small vessels may rupture into a bronchus. Rupture of a pulmonary artery presents with massive hemoptysis and frequently death. A pulmonary artery dissection may rupture into pericardium to cause tamponade.

4. Heart-lung transplantation or lung transplantation with intracardiac repair can be considered for patients with Eisenmenger syndrome. In adults, 1-year survival after heart-lung transplantation is 60%. If the LV and RV function normally and the defect can be repaired, single or bilateral lung transplantation for all patients has a 1-year survival of about 72%. 


Transesophageal 4 chamber view shows the large outflow-tract VSD opposite the mitral valve.

Echo

With peripheral venous injection of 'Optison' contrast media, the transesophageal 4 chamber view shows the right-to-left shunting across the VSD, resulting in cyanosis characteristic of Eisenmenger's syndrome.

Echo

TEE long axis outflow view centered on the aortic valve (with the VSD and the pulmonary outflow tract below it, shows where right-to-left shunting across the VSD can occur.

Echo

With peripheral venous injection of 'Optison' contrast media, the TEE long axis outflow centered on the aortic valve with the VSD below it, shows the right-to-left shunting across the VSD and out the aorta, resulting in cyanosis characteristic of Eisenmenger's syndrome.

Echo

ECG shows a right axis with findings of right ventricular hypertrophy indicated by prominent R waves in the anterior leads V1 - V3. This tracing with its normal p waves, however, lacks the atrial enlargement (p pulmale) sometimes found in Eisenmenger's.

CT scan shows clacifications of the pulmonary artery which may be found in chronic pulmonary hypertension.