Age: 40 years
Gender: Female
Occupation: Lawyer
Working diagnosis: Eisenmenger syndrome
HISTORY
At birth the patient had a large VSD with congestive heart failure. A pulmonary artery band was placed at 1 year of age. Catheterization at age 3 confirmed the anatomical diagnosis, but her pulmonary vascular resistance was elevated. Her parents were told an operation to correct the defect could not be offered.
She had an otherwise uneventful childhood and upbringing, but gradually became cyanotic and clubbed. She completed her education and began a busy full-time career. She had been told she should not have children, and never married.
Gradually her exercise tolerance deteriorated. At the age of 30, she had her first of several episodes of significant hemoptysis. Her hemoglobin fell as low as 12 g/dL. Each episode resolved spontaneously. She was placed on a waiting list for a heart-lung transplant, but 3 years later her condition was no worse and she was told she was too well for transplant. Since then, she has had smaller episodes of hemoptysis each year. She continued to work but did so mainly from her own home and at a slower pace.
Within the last year she felt her physical capacity dwindle further, and she sought additional medical attention.
The patient had heavy menstrual flow every month. She had never had a therapeutic phlebotomy. There was no evidence of gastrointestinal bleeding. She was not a vegetarian.
Comments: Pulmonary artery (PA) banding to prevent pulmonary vascular disease does not always succeed. If the band is not tight enough to produce significant stenosis, pulmonary vascular disease will develop in a relatively short period of time. Indeed, in some patients, pulmonary vascular resistance never falls after birth (pulmonary hypertension of the newborn).
Hemoptysis is common in Eisenmenger syndrome (see Cases 73 and 74 ) but has no known bearing on prognosis. It can be a cause of relative anemia, and transfusions or iron supplementation may be necessary to restore the hemoglobin to an appropriately increased level (see Case 73 ).
Heart-lung transplantation is often considered as an option in Eisenmenger patients with severe disability. However, the long-term survival from heart-lung transplantation is usually worse than from Eisenmenger syndrome itself.
Factors related to blood loss and iron deficiency are worth exploring in any patient with cyanotic heart disease.
CURRENT SYMPTOMS
The patient is unable to climb a flight of steps without stopping and has to rest when pushing a shopping cart through the supermarket. She is able to continue working, however, and spends most of her day at her desk in her home office.
NYHA class: III
Comments: In the care of adults with congenital heart disease, it is remarkable how many patients with disabling lesions are able to continue full-time gainful employment for long periods despite their medical problems. Chronic disability can be very well tolerated by a determined patient.
PHYSICAL EXAMINATION
BP 120/80 mm Hg, HR 90 bpm, oxygen saturation 73% (finger), 80% (earlobe), and 71% (toe)
Height 165 cm, weight 59 kg, BSA 1.64 m 2
Surgical scars: Left thoracotomy scar
Neck veins: The venous pulsations were seen 5 cm above the sternal angle, with pronounced x and y descents.
Lungs/chest: No rales or wheezes were heard in the chest.
Heart: The rhythm was regular, with a normal first heart sound, loud pulmonary component of the second heart sound, and soft systolic ejection murmur. There was an RV lift.
Abdomen: Thin, no ascites or organomegaly
Extremities: Symmetrical clubbing of fingers and toes, but no edema
Comments: Not all vascular beds, or oximeters, are created equal. Even when there is no differential cyanosis, oxygen saturation measured transcutaneously will vary between body sites. In cyanotic heart disease, this variation can be considerable. Even when the fingernail bed is clean and without fingernail polish (a common source of error), earlobe saturations will usually be 6% points higher. The earlobe is rich in arterial flow and will respond faster to changes in oxygen saturation than the finger, for example, and there is less oxygen uptake to affect the photometric reading. Usually this difference is inconsequential, but ought to be appreciated so that a consistent oximetry method is maintained.
Eisenmenger patients will usually have normal central venous pressure in the absence of tricuspid valve regurgitation or RV dysfunction. The pattern seen here was not expected.
The loud pulmonary component of the second heart sound is the hallmark of pulmonary hypertension.
It is surprising that the PA banding did not create a louder ejection systolic murmur. The band must have been very loose.
LABORATORY DATA
| Hemoglobin | 17.4 g/dL (11.5–15.0) |
| Hematocrit/PCV | 55% (36–46) |
| MCV | 77 fL (83–99) |
| Platelet count | 208 × 10 9 /L (150–400) |
| Sodium | 135 mmol/L (134–145) |
| Potassium | 4.2 mmol/L (3.5–5.2) |
| Creatinine | 0.65 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 5.2 mmol/L (2.5–6.5) |
| Iron | 9.9 µmol/L (12.6–26.0) |
| Ferritin | 14 µg/L (30–233) |
| TIBC | 80 µmol/L (50–80) |
| Transferrin | 3.2 g/L (2.0–3.2) |
| Transferrin saturation | 12% (20–45) |
| TSH | 0.81 IU/L (0.32–5.0) |
| Urate | 345 µmol/L (210–440) |
| Erythropoietin | 110.8 IU (5.0–25.0) |
| P 50 of the oxygen-hemoglobin dissociation curve | 31 mm Hg (27) |
Comments: The hemoglobin is a bit too low for her level of desaturation (see “ Focused Clinical Questions and Discussion Points ”). She is iron deficient, and it is reasonable to expect this is the reason for her relatively low hemoglobin/hematocrit.
The MCV is low here, consistent with her iron deficiency. However, microcytosis is often not seen despite low iron stores, and thus MCV is usually not an adequate screening test for iron deficiency in cyanotic heart disease.
Plasma urate level, often elevated because of the relatively high turnover of red blood cells in cyanotic patients, has been shown to have prognostic implications. If a gout flare has occurred, daily allopurinol should be offered.
The P 50 of the oxygen-hemoglobin dissociation curve is right-shifted, meaning oxygen will be released at a lower oxygen tension at the tissue level. Elevated erythropoietin occurs in response to low oxygen delivery. Though these tests are not standard clinical laboratory tests, in this case they both indicate that her hemoglobin is insufficient for her systemic oxygen delivery needs.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 101 bpm
QRS axis: +148°
QRS duration: 86 msec
Sinus rhythm, prominent R-wave in V1 with deep persistent S-waves to V6 and right-axis deviation, consistent with RV hypertrophy
Comments: These are typical findings of a patient with chronic pulmonary hypertension. There is evidence of RV hypertrophy, even though RA overload is not seen. There is no AV or intraventricular conduction delay.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 59%
Mildly enlarged cardiac silhouette. There was a prominent central and left pulmonary artery, with normal lung parenchyma. Abnormal calcification within the pericardium along the RA and RV border was also seen. Mild scoliosis and evidence of previous left thoracotomy were also present.
Comments: The CXR is compatible with Eisenmenger syndrome. There is a dilated central and left pulmonary artery without any pulmonary plethora, compatible with pulmonary hypertension. It is not clear why the right PA branch is not more prominent.
The abnormal pericardial calcification seen here is a surprise, and could indicate possible constrictive pericarditis. The frequency of calcific pericardial disease varies depending on the population studied and when the CXR was done. When tuberculous disease is excluded, available literature suggests that pericardial calcification is found in less than 40% of patients with constrictive pericarditis. It is most often found in patients with idiopathic constrictive pericarditis (82%) and suggests that calcification is a nonspecific response to a chronic inflammatory process. It rarely follows cardiac surgery (12%).
EXERCISE TESTING
| Exercise protocol: | Modified Bruce |
| Duration (min:sec): | 4:14 |
| Reason for stopping: | Dyspnea and headache |
| ECG changes: | Downsloping ST depression in II, III, aVF |
| Rest | Peak | |
|---|---|---|
| Heart rate (bpm): | 90 | 146 |
| Percent of age-predicted max HR: | 81 | |
| O 2 saturation (%): | 73 | 47 |
| Blood pressure (mm Hg): | 120/80 | 135/75 |
| Peak V o 2 (mL/kg/min): | 9.25 | |
| Percent predicted (%): | 34 | |
| Ve/V co 2 : | 139 | |
| Metabolic equivalents: | 3.0 | |
Comments: As a group, patients with Eisenmenger syndrome have the lowest exercise capacity of any group of congenital heart patients, and there are likely several reasons for this. This particular patient was able to exercise for only 4 minutes, which is low even for the Eisenmenger group, in our experience. The drop in oxygen saturation is expected in a cyanotic patient.
The significance of ST depression in these patients is not yet certain, but probably relates to low oxygen delivery rather than epicardial coronary disease.
All patients with cyanotic heart disease have a higher Ve/V co 2 slope than acyanotic patients. Yet here the Ve/V co 2 slope is very high, even higher than average for a cyanotic patient, in whom the mean for Eisenmenger patients was 70 ± 10. Still, the significance of this is not certain, and the value of this slope does not correlate with outcome.
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