Eisenmenger Syndrome Workup
- Author: Mikhael F El-Chami, MD; Chief Editor: Park W Willis IV, MD more...
Laboratory studies used in the diagnosis of Eisenmenger syndrome include complete blood count (CBC), biochemical profiles, and iron studies, in addition to blood gas assessments. Imaging studies can reveal cardiac structural defects and pulmonary changes, including irreversible alterations in the pulmonary system. Electrocardiography can also reveal signs of underlying cardiac defect and of right ventricular hypertrophy, while histologic findings can be used to determine the stage of pulmonary vascular pathology.
If the pulmonary artery pressures do not fall with inhalation of 100% oxygen or nitric oxide, the pulmonary hypertension is considered irreversible, and the patient is not a candidate for surgical repair.
Pulmonary angiography can reveal structural alterations in the pulmonary vascular bed. Irreversible changes (consistent with Heath-Edwards III severity) can be visualized and may include loss of normal arborization, as well as tortuosity, narrowing, or cut-off of small pulmonary arteries.
Complete blood count (CBC) findings include the following:
Erythrocytosis increases hematocrit and hemoglobin concentration
Phlebotomy-related iron deficiency decreases the mean corpuscular volume and mean corpuscular hemoglobin concentration
The red cell mass is increased with erythrocytosis
Bleeding time is prolonged by platelet dysfunction
Biochemical profile findings include the following:
Increased conjugated bilirubin
Increased uric acid
Urea and creatinine are sometimes elevated
Urinary biochemical analysis reveals proteinuria
Erythrocytic hypoglycemia is an artifactually low blood glucose level caused by increased in vitro glycolysis in the setting of increased red cell mass.
Iron study findings include the following:
Reduced serum ferritin due to phlebotomy-related iron store reduction
Increased total iron binding capacity
Additional findings include the following:
Pulse oximetry - Cyanosis and decreased saturations may be present
Arterial blood gas (ABG) - Reduced resting partial pressure of carbon dioxide (PaCO 2) due to resting tachypnea and reduced partial pressure of oxygen (PaO 2) due to right-to-left shunting; mixed respiratory and metabolic acidosis
Brain natriuretic peptide (BNP) - BNP may be a marker for prognosis in pulmonary arterial hypertension (PAH) [22, 14]
Chest Radiography and MRI
In the early stages, chest radiography reveals a typical appearance of increased pulmonary flow with right ventricular or biventricular enlargement, right atrial or biatrial enlargement, pulmonary vascular plethora, and an enlarged main pulmonary artery. (See the image below.)
Advancing pulmonary vascular disease appears as a normal cardiac silhouette with dilated main and branch pulmonary arteries without evidence of pulmonary overcirculation.
In patients with severe pulmonary vascular disease, radiography reveals a normal-sized heart, pruning of the pulmonary vasculature (ie, diminished distal/peripheral pulmonary vascularity), pulmonary infarction, and/or calcification of a patent ductus arteriosus (PDA).
Magnetic resonance imaging
Magnetic resonance imaging (MRI) can be used for the following:
Estimation of the magnitude of the right-to-left shunt
Anatomical definition (in some cases)
Two-dimensional (2-D) transthoracic imaging can reveal the particular features of the structural cardiac defect responsible for the shunt. Coexistent structural abnormalities can also be identified. (See the image below.)
Color-flow Doppler interrogation is useful for demonstrating the direction of intracardiac blood flow. (See the images below.)
Pulsed and continuous wave Doppler measurements permit quantification of the intracardiac shunt, right ventricular pressures, and estimation of pulmonary artery systolic/diastolic and mean pressures by means of the modified Bernoulli equation.[24, 25] Echocardiography can also be used to identify surgical systemic-to-pulmonary shunts. The addition of supine bicycle ergometry can demonstrate increased right-to-left shunting with exercise.
Transesophageal echocardiography is useful for imaging posterior structures, including the atria and pulmonary veins. (See the image below.)
Electrocardiographic findings are almost always abnormal in Eisenmenger syndrome. They include the following:
Signs of right heart hypertrophy, in addition to abnormalities associated with the underlying defect
Frontal plane QRS right axis deviation
Tall monophasic R wave in V 1, deep S wave in V 6, ± ST and T wave abnormalities
Six-minute walk test versus cardiopulmonary exercise test
The 6-minute walk test (6MWT), which requires minimal equipment and subspecialty experience, is simpler than the more formal and involved traditional cardiopulmonary exercise test (CPET).
Moreover, the 6MWT is better tolerated in younger children, who often will not comply with the multiple leads, facemask, or other equipment needed for a CPET.
The 6MWT may be effective in patients with a walk distance of less than 300 m. In patients above the 300-m threshold, however, a CPET should be considered.
Cardiac catheterization can be of value, after collecting clinical and noninvasive data, to confirm and/or demonstrate the following:
Severity of PAH
Conduit patency and pressure gradient
Coexisting coronary artery anomalies (rare)
Degree of shunting
Cardiac catheterization permits the examination of the intracardiac structure and exclusion of potentially reversible causes of pulmonary hypertension, as well as assessment of ventricular function (systolic and diastolic), examination of the intracardiac shunt, determination of pulmonary artery pressure and flow, and calculation of pulmonary vascular resistance (PVR).
In severe pulmonary vascular disease, histologic analysis reveals abnormal extension of muscle into small peripheral arteries, severe medial smooth muscle hypertrophy of existing muscular arteries, plexiform lesions and increased intercellular material, and a reduction in the overall concentration and size of arteries.
In 1958, Heath and Edwards proposed a histologic grading of pulmonary vascular disease that corresponds to the duration and severity of injury caused by increased pressure and volume load. This grading is a histopathologic classification derived from biopsies taken from isolated portions of the lung.
A biopsy of various segments of the lung could possibly be performed at the same time, yielding different histologic grades. Currently, performing lung biopsies is rarely necessary. The combination of pulmonary angiography and measurement of pulmonary vascular hemodynamics is usually sufficient to guide therapy.
Stages of pulmonary vascular pathology, according to the histopathologic criteria of Heath and Edwards, are as follows :
Stage I - Medial hypertrophy (reversible)
Stage II - Cellular intimal hyperplasia in an abnormally muscular artery (reversible)
Stage III - Lumen occlusion from intimal hyperplasia of fibroelastic tissue (partially reversible)
Stage IV - Arteriolar dilation and medial thinning (irreversible)
Stage V - Plexiform lesion, which is an angiomatoid formation (terminal and irreversible)
Stage VI - Fibrinoid/necrotizing arteritis (terminal and irreversible)
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