Tetralogy, 54 yr old male
A 54 year old man born with tetralogy of Fallot, "blue" as an infant, was palliated with a left Blalock-Taussig as a child, and a Glenn at age 20. At age 34 he declined complete repair; he was fully functional with mild clubbing, an O2 saturation of 95%, but no Blalock-Taussig shunt murmur. He next saw a cardiologist at age 52 for chest pain. Five months ago he experienced progressive dyspnea on exertion and cyanosis. Orthopnea developed in the weeks preceding admission, with neck fullness and abdominal fullness occurring in the days prior to admission.
Tetralogy in a 54 y.o. male
In CCU, he sat upright, speaking in short phrases. His extremities, nose, and tongue were blue. BP 116/76, RR 28, HR 104, O2 sat 74% on 100% face mask. His neck and head were plethoric, the right upper extremity enlarged. The chest had bilateral scars, and audible rales in the lower lung fields. He had a prominent RV heave, normal S1, a 3/6 harsh systolic murmur at the left base, a loud A2 with a fixed split and soft P2, and a diastolic murmur at the base. Hgb 17.6, plt 56, elevated liver enzymes, PT 20, PTT 34, D-dimers >1.0, fibrinogen 60-90, FSP>40. 100% face mask ABG 7.40/31/36.
Studies
CXR
ECG
Transthoracic echocardiogram
Venogram
Hospital course
IV tPA was initiated but GI and pulmonary bleeding ensued. Renal failure requiring hemodialysis developed. Cyanosis and blood loss persisted, and hemodynamic instability developed. The patient expired on the third hospital day.
Autopsy
Thrombus as seen in venogram as well as old organized thrombus in the hypertrophied RV crossing through the 2 cm subaortic VSD into the LV as well as thrombus in the aneurysmal aorta. The pulmonary valve was dysplastic, patent to a pediatric probe.
Keys to Management
DDx of shortness of breath
1. Pulmonary arteriovenous malformations (AVMs) resulting in hypoxemia can occur after cavo-pulmnonary anastomoses. The prevalence increases with time. Prevalence detected by pulmonary angiography is 20-25% (with echo monitored saline contrast injection into the pulmonary arteries, prevalence is 71%). In the Yale experience, which is the longest follow-up of Glenn shunts, 31% of patients had angiographically visible pulmonary AVMs in the right lower lobe. The etiology is likely related to the exclusion of normal hepatic venous return to the pulmonary vasculature. In Glenn shunts, the effected vasculature is the right lung. Bilateral pulmonary AVMs occur if both lungs are deprived of normal hepatic venous flow. Similar pulmonary AVMs occur with cirrhotic liver disease, with diffuse dilation of pre-capillary vessels.
2. Veno-venous collateral flow may occur in 33% of patients after a bi-directional cavo-pulmonary anastomoses. Bypassing the SVC‹PA path, blood returns via a venous connection to the left heart, causing a right-to-left shunt and varying degrees of deoxygenation. Return may be SVC to IVC or to other veins draining below the diaphragm, then to RV and across the VSD to the LV. SVC-to-pulmonary vein collaterals can develop. The classic Glenn operation involves ligatation of the azygous vein, making SVC to IVC flow and its attendant right to left shunt unlikely.
3. The palliation achieved with the Glenn shunt declines with time. In the Yale experience, 81% of shunts provided some palliation at 10 years, 50% at 20 years. The shunt may fail due to stricture and/or thrombosis.
4. Congestive heart failure: left ventricular function in the repaired patient decreases with rest and exercise over time. Cause of this may be volume load of the systemic‹arterial shunt, intrinsic disease, inadequate myocardial protection during surgery, or acquired heart disease. This applies to both ventricles in the case of unrepaired patients.
The Canadian Consensus Conference on Adult congenital heart disease recommends regular cardiologist follow-up of repaired as well as the rare unrepaired patient. Follow-up should address right and left ventricular size and function, residual or recurrent VSD, pulmonary regurgitation, right ventricular outflow gradient, tricuspid regurgitation, exercise capacity, atrial and ventricular arrhythmia, conduction abnormality, aortic valve regurgitation, aortic dimensions.
This patient did not see a cardiologist for 18 years. Unfortunately, this lack of regular cardiac care is not uncommon. Forty percent of patients after repair of tetralogy of Fallot have no regular medical care.
Hematologic derangements in cyanotic congenital heart disease usually result in spontaneous bleeding (epistaxis, hemoptosis, easy bruising) but potential for thrombosis exists in all patients. The hemostatic derangement usually correlates with the degree of hypoxemia and erythrocytosis. Platelet number and function are diminished. The protime and proactivated partial thromboplastin time are often elevated. Fibrin degradation products are normal or nearly normal.
Given the risk of bleeding and lack of proven efficacy in preventing thrombosis in situ, anticoagulants are not recommended routinely. Thrombosis of cerebral veins in children causing stroke is believed related to dehydration. This patientąs coagulopathy may be due in part to congestive hepatopathy. The superior vena cava thrombosis may have resulted from his coagulopathy and any narrowing or stricture formation at the aging Glenn shunt. The organized ventricular thrombi found at autopsy may have resulted from coagulopathy and cardiomyopathy.
Aortic annular dilation and regurgitation Progress in the unrepaired patient: the unsupported aortic valve cusps prolapse into the sub-aortic VSD; the aorta continues to receive the cardiac output of both ventricles; the aorta and aortic valve may be intrinsically abnormal; endocarditis exacerbates regurgitation. Progressive aortic root dilation and aortic regurgitation may occur in patients after repair, necessitating aortic valve replacement and less commonly aortic aneurysmectomy or graft replacement of the ascending aorta.
Color doppler left parasternal long axis view shows an over-riding aorta with ventricular septal defect and left-to-right shunt.
Short axis view shows absent tissue between aortic valve and RVOT due to the ventricular septal defect where the left-to-right shunt occurs.
Left brachial vein contrast angiogram shows extensive clot filling the superior vena cava anastomosis with the right pulmonary artery.
ECG shows right bundle branch block with RVH indicated by prominent R waves in V2 - V3. This case also has a superior axis, left anterior hemiblock indicative of LVH, though this property is not characteristic of
Tetralogy.
Gross pathology shows the extensive clot in left ventricle and through the VSD