Age: 26 years
Gender: Male
Occupation: Unemployed
Working diagnosis: D-transposition of the great arteries with ventricular septal defect with Eisenmenger syndrome
HISTORY
The patient was blue at birth, and the diagnosis of TGA with ventricular communication was suspected. At 2 months of age he underwent catheterization, and the diagnosis of TGA with a VSD was confirmed. Pulmonary vascular disease was already present. Therefore, no corrective surgery was performed.
At the age of 11 he again underwent cardiac catheterization that showed severely elevated pulmonary artery pressure (equal to systemic arterial pressures).
Since the age of 20 he has undergone multiple routine venesections. One venesection was performed when he presented with a hemoglobin of 14 g/dL.
Comments: Complete TGA is fatal unless there is a communication and thus mixing between the venous and arterial circulations, in this case a large VSD. Thus the only oxygenated blood that will reach the aorta must be shunted across the VSD.
Patients with complete TGA are predisposed to developing PAH, especially in the presence of a nonrestrictive VSD. Vasoconstriction of pulmonary arterioles is induced by hypoxemic blood carried in systemic arterial collaterals, accelerating the pulmonary vascular disease. Moreover, hypoxemia provokes a fall in systemic vascular resistance and an increase in the volume of unsaturated blood in the systemic vascular bed.
A therapeutic phlebotomy when the hemoglobin was only 14 was misguided, since this would worsen systemic oxygen transport and make symptoms worse.
Thrombocytopenia and clotting factor deficiencies have been described in patients with cyanotic ACHD and predispose to bleeding.
CURRENT SYMPTOMS
The patient has shortness of breath on exertion. He cannot climb stairs and is limited to walking only 200 to 300 m on flat ground. He frequently complains of headaches, especially with exertion. He denies any orthopnea, palpitations, chest pains, or hemoptysis.
NYHA class: III
Comments: Exertional breathlessness and headaches are very common in cyanotic patients with ACHD. Headache may be a manifestation of hyperviscosity, but usually only when the hematocrit is greater than 65%. It can also be due to inadequate hemoglobin and low oxygen tissue delivery. Many cyanotic patients complain of headaches after exertion as their oxygen saturation falls, which tend to resolve relatively quickly with rest.
PHYSICAL EXAMINATION
BP 100/60 mm Hg, HR 70 bpm, oxygen saturation on room air 60%
Height 180 cm, weight 60 kg, BSA 1.73 m 2
Neck veins: JVP was 3 cm above the sternal angle (A-wave higher than V-wave).
Lungs/chest: Chest was clear.
Heart: Regular rhythm. There was a palpable RV impulse and a systolic thrill over the upper left sternal edge. Normal first heart sound, loud second heart sound with a loud pulmonary component. There was a 4/6 coarse ejection systolic murmur in the pulmonary area.
Peripheral pulses: Normal
Abdomen: No organomegaly
Extremities: Marked clubbing of fingers and toes, minimal ankle swelling
Comments: An oxygen saturation of 60% is extremely low even within the spectrum of cyanotic ACHD. This in itself implies a very poor prognosis.
The dominant A-wave reflects ventricular hypertrophy.
The heart exam suggests some degree of pulmonary stenosis.
LABORATORY DATA
| Hemoglobin | 17.0 g/dL (11.5–15.0) |
| Hematocrit/PCV | 51% (36–46) |
| MCV | 84 fL (83–99) |
| Platelet count | 87 × 10 9 /L (150–400) |
| White blood cells | 5.3 × 10 9 /L (4.0–10.0) |
| Sodium | 137 mmol/L (134–145) |
| Potassium | 4.6 mmol/L (3.5–5.2) |
| Creatinine | 0.81 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 5.8 mmol/L (2.5–6.5) |
OTHER RELEVANT LAB RESULTS
| Total protein | 7.2 g/dL (6.2–8.2) |
| Albumin | 3.7 g/dL (3.7–5.3) |
| Bilirubin | 38 mmol/L (3–24) |
| Alk phos | 128 U/L (38–126) |
| INR | 1.1 |
| Iron | 13 µmol/L (12.6–26.0) |
| Ferritin | 16 µg/L (32–284) |
| Transferrin sat | 18% (20–45) |
Comments: There is mild erythrocytosis. The hemoglobin is much lower than expected for the patient’s oxygen saturation levels, and he would probably feel better at a higher hemoglobin level. The hemoglobin tends to rise proportionally to the fall in oxygen saturation. Iron deficiency anemia is frequent in Eisenmenger patients, the etiology of which may be multifactorial (see Case 72 ). Iron supplementation is warranted. Even though the MCV is not low, iron deficiency may still be present.
Thrombocytopenia is a common finding in patients with Eisenmenger syndrome. It may be secondary to shortened platelet survival due to a peripheral consumption or destruction.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 61 bpm
PR interval: 204 msec
QRS axis: +168°
QRS duration: 128 msec
Sinus rhythm, first-degree AV block, RBBB, RV hypertrophy
Comments: RV hypertrophy is manifested by marked right-axis deviation, the very tall R-waves in lead V1, and the deep S-waves in leads V4–5.
RV hypertrophy is the expected finding in transposition, since the RV is the systemic ventricle.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 60%
There is marked cardiomegaly. There is enlargement of the pulmonary trunk and central pulmonary arteries with peripheral “pruning.” The pleural spaces are clear.
Comments: The large central pulmonary arteries suggest pulmonary hypertension and/or high circulating volume through the pulmonary circulation. The “pruning” reflects high pulmonary vascular resistance.
EXERCISE TESTING
| Exercise protocol: | Modified Bruce |
|---|---|
| Duration (min : sec): | 1 : 30 |
| Reason for stopping: | Dyspnea |
| ECG changes: | None |
| Rest | Peak | |
|---|---|---|
| Heart rate (bpm): | 70 | 142 |
| Percent of age-predicted max HR: | 73 | |
| O 2 saturation (%): | 60 | 41 |
| Blood pressure (mm Hg): | 100/55 | 138/50 |
Comments: The patient was only able to exercise on a modified Bruce protocol for 90 seconds, which is very low for a 26-year-old, and low even for a patient with cyanotic heart disease and pulmonary hypertension. His low baseline oxygen saturation combined with the relatively low hemoglobin makes this result credible. Although formal cardiopulmonary measurements were not made, the severity of exercise limitation is indisputable.
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