Age: 36 years
Gender: Female
Occupation and lifestyle information: Clerk and frequent traveler
Working diagnosis: Patent ductus arteriosus and Eisenmenger syndrome
HISTORY
The patient was diagnosed with a PDA after she experienced cardiac and pulmonary problems during infancy. At age 5 years, the continuous murmur disappeared and the clinical findings were consistent with PAH. Further investigations were recommended but not performed. There were no follow-up visits.
At age 13, the patient had symptomatic thoracolumbar scoliosis and was considered for surgery. She complained of dyspnea on exertion. Preoperative clinical assessment and heart catheterization confirmed PAH. Pulmonary vascular resistance was at systemic level with no response to vasodilators. Angiograms showed a dilated left pulmonary artery and a hypoplastic right pulmonary artery. In addition, the right lower lobe was fed by an aortopulmonary collateral arising from the abdominal aorta. There was no pulmonary sequestration. With these findings understood, orthopedic surgery was performed. The vertebral column was stabilized with two Harrington rods extending from the distal thoracic into the lumbar region. The perioperative course was uneventful.
At age 32 the patient was diagnosed with restrictive pulmonary disease (forced vital capacity [FVC] 2.0 L, 60% predicted; inspiratory vital capacity 2.0 L, 60% predicted; total lung capacity 3.2 L, 68% predicted; RV 1.2 L, 86% predicted) and moderately reduced CO diffusing capacity (DLCO 4.7 mmol/kPa/min, 54% predicted). Obstructive lung disease was mild (FEV1/FVC 71% predicted).
A 6-minute walk test (6MWT) was performed 2 years later. She walked 450 m. Her oxygen saturation (right fingers) was 90% at rest but fell to 63% after the test. She remained active without noticeable limitation.
Recently, after completing an uneventful 12-hour-long intercontinental flight, the patient felt a “crackling” in her right chest and experienced rapidly progressive, severe dyspnea associated with cough and minor hemoptysis. Intravenous heparin (bolus injection of 5000 units, followed by a continuous infusion of 25,000 units per 24 hours) was administered in a regional hospital. D-dimers were negative. She was treated with 10 L/min supplemental oxygen and 10 mg intravenous furosemide before referral to a tertiary care center for further investigation and therapy.
There was no history of bleeding events, thromboembolic complications, hyperviscosity symptoms, or gouty arthritis. The patient was not a smoker.
Comments: The medical history is characteristic for a patient with an isolated large PDA. Nonrestrictive PDAs are rare in adults living in the developed countries because most nonrestrictive PDAs are diagnosed and closed during childhood. PDAs are more common in females. As neonatal pulmonary vascular resistance falls after birth, the left-to-right shunt increases. The affected child may present with left heart failure before the age of 3 months. Congestive heart failure and recurrent pulmonary infections may occur during infancy. In the setting of a nonrestrictive PDA, endothelial injury triggers a cascade of events initiating progressive pulmonary vascular disease. As pulmonary vascular disease progresses and pulmonary vascular resistance increases after the first year of life, the systemic-to-pulmonary shunt decreases. The continuous murmur disappears when pulmonary arterial hypertension is established. The disappearance of this murmur can be misinterpreted as spontaneous PDA closure.
Thoracic deformities (mainly scoliosis and kyphoscoliosis) often cause restrictive pulmonary disease in congenital heart patients. A ventilation–perfusion mismatch may further reduce oxygenation and contribute to symptoms and reduced exercise capacity in these patients.
Patients with Eisenmenger PDA are less symptomatic and have a better long-term outcome than other Eisenmenger patients, especially those with severe pulmonary hypertension and complex disease (truncus arteriosus, atrioventricular septal defect, univentricular connection, transposition complexes, etc.). After left heart failure resolves during infancy, right heart failure may develop during adulthood because of severe PAH. Our patient did not present with right heart failure symptoms or infective endocarditis.
Pulmonary emboli and/or intrapulmonary hemorrhage are the major diagnostic considerations in this setting. On the basis of the medical history, heart failure or pulmonary infection causing dyspnea and hemoptysis is less likely.
CURRENT MEDICATIONS
Minulet (oral contraceptive containing 0.075 mg gestoden and 0.03 mg ethinylestradiol)
Heparin 25,000 U intravenously every 24 hours
Comments: A reliable method of contraception is essential in a female with Eisenmenger syndrome. The benefits of oral contraceptives must be balanced against the risks including systemic hypertension, venous thrombosis, and fluid retention. The patient has been taking this oral contraceptive for many years without any complication. Some ACHD experts would not have supported the use of oral contraceptives in a patient like this. There were case reports of oral contraceptive use being associated with accelerated pulmonary hypertension in the 1960s, but the lower dose preparations used today may not be contraindicated.
Anticoagulation is the therapy of choice in the setting of confirmed pulmonary emboli but is contraindicated in the presence of intrapulmonary hemorrhage.
PHYSICAL EXAMINATION
BP 130/95 mm Hg, HR 106 bpm, RR 22/min, oxygen saturation at rest 86% (right hand), on room air 80% (feet), increasing to 94% on 10 L/min supplemental oxygen
Height 158 cm, weight 55 kg, BSA 1.55 m 2
Surgical scars: Surgical scar on the back
Neck veins: JVP was not elevated (2 cm above sternal angle), with normal A- and V-waves. The hepatojugular reflex was negative.
Lungs/chest: There was moderate kyphoscoliosis and hypoplasia of the right chest. Crackles were present in the right lung. The left lung was clear.
Heart: The heart rhythm was regular (106 bpm). The apex was located in the right sixth intercostal space and was laterally displaced. There was a right ventricular lift. No thrill was present. The first heart sound was normal. The second heart sound was narrowly split with a loud pulmonary component; there was no clear variation with respiration. There was neither a diastolic murmur nor a continuous murmur. Peripheral pulses were normal.
Abdomen: No hepatomegaly
Extremities: Differential cyanosis was present. Toe clubbing was present. There was no edema.
Comments: The demonstration of differential cyanosis is diagnostic of an Eisenmenger PDA (see Fig. 73-8 ).
There is no evidence of right heart failure.
Location of the apex in the right chest suggests dextrocardia.
The second heart sound is typically single in patients with Eisenmenger VSD, because both ventricles act as single ventricle due to the large interventricular communication. The second heart sound is narrowly split with a loud pulmonary component in patients with Eisenmenger PDA.
In general, the second heart sound becomes widely split when RV function is depressed and ejection time prolonged; this phenomenon results from delayed closure of the pulmonary valve.
The loud pulmonary second heart sound and the RV lift are both due to PAH.
PERTINENT NEGATIVES
There were no findings of infectious disease.
LABORATORY DATA
| Day 1 * | Day 2 * | |
|---|---|---|
| Hemoglobin | 20.7 g/dL | 17.6 g/dL (11.5–15.0) |
| Hematocrit/PCV | 62% | 53% (36–46) |
| MCV | 97 fL | 96 fL (83–99) |
| Platelet count | 163 × 10 9 /L | 169 × 10 9 /L (150–400) |
| Sodium | 141 mmol/L (136–145) | |
| Potassium | 3.7 mmol/L (3.6–4.5) | |
| Creatinine | 0.70 mg/dL (0.6–1.2) | |
| Blood urea nitrogen | 3.6 mmol/L (1.7–8.3) | |
| Ferritin | 29 µg/L (10–150) | |
Comments: Secondary erythrocytosis is a physiologic response to chronic hypoxemia and refers to the isolated increase in red blood cells, hemoglobin, and hematocrit as is appropriate in the setting of cyanotic ACHD (this is in contrast to polycythemia rubra vera, which is a proliferative disorder including all three cell lines). There is a close relationship between the degree of secondary erythrocytosis and the severity of hypoxemia.
A hemoglobin of 20.7 g/dL is appropriate for a patient with Eisenmenger PDA and an oxygen saturation of less than 85% in the lower extremities. There was a significant fall in hemoglobin/hematocrit from day 1 to day 2 caused by a major intrapulmonary hemorrhage even though hemoptysis was a minor feature of her presentation. A hemoglobin of 17.6 g/dL is mildly suboptimal in the setting of cyanotic ACHD. There is no evidence of iron depletion since the ferritin is still in the range of normal, although ferritin is an acute phase reactant and thus not entirely accurate during an acute illness. Transferrin saturations would be a better marker under these circumstances.
OTHER RELEVANT LAB RESULTS
| CRP | 3 mg/L (<5) |
| ProBNP | 651 ng/L (<153) |
| CK | 52 U/L (<167) |
| Troponin | <0.01 µg/L (<0.10) |
| INR * | 1.4 (<1.2) |
* The amount of sodium citrate was appropriately adjusted to hematocrit.
Comments: The mildly elevated INR (1.4) is the result of reduced vitamin-K-dependent clotting factors (II, VII, IX, X) in patients with cyanotic ACHD. A low platelet count is frequently observed in this population.
Laboratory precautions are required for accurate measurement of the coagulation parameters in cyanotic patients because secondary erythrocytosis increases hematocrit and decreases plasma volume. Adjustment of the amount of liquid anticoagulants is essential for accurate measurement of the coagulation parameters.
ACHD is a chronic heart failure syndrome, which is reflected by the mildly elevated proBNP. However, this proBNP level is far too low to support the diagnosis of dyspnea due to heart failure in this patient. The mildly elevated proBNP is caused by the severely increased RV systolic pressure.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 100 bpm
QRS axis: +210°
PR interval: 148 msec
QRS duration: 92 msec
Sinus rhythm with a tall P-wave (2.5 mm in lead II); peaked P-waves are evident in lead C4–6. There is precordial voltage evidence of LV hypertrophy, not supported elsewhere.
Comments: It is crucial to confirm the position of both the limb and precordial leads before interpretation of the ECG. In the setting of situs solitus with dextrocardia, the limb leads are left unchanged and the precordial leads are recorded from the right anterior chest. This lead position is appropriate because the atrial situs is normal (i.e., the sinus node is located at the junction of the right SVC and the morphologic RA on the right) and the base-to-apex axis points to the right. In situs solitus with dextrocardia, the atrium is depolarized from a normally positioned sinus node.
In all patients with dextrocardia, ECG interpretation depends on knowledge of the lead positions used regardless of what they were.
The biphasic P-wave in lead I may be caused by the abnormal position of the heart because of kyphoscoliosis. Accuracy of the ECG interpretation is limited in the presence of severe thoracic deformity.
CHEST X-RAY
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