Age: 18 years
Gender: Male
Occupation: Student
Working diagnosis: Down syndrome with unrepaired atrial septal defect
HISTORY
The patient was known to have a congenital heart defect at birth. His parents remember being told that there were no means available to repair the defect safely. The child grew typically for one with Down syndrome. He had become a happy, energetic young man. He participated regularly at a special education facility and enjoyed theater and sports.
Cyanosis had been noted since his early childhood in both hands and feet, but otherwise he had no specific complaints. After an attack of gout he was started on allopurinol.
Eighteen months prior to presentation he coughed up a large volume of blood while resting at home. He collapsed unconscious onto the floor but regained consciousness soon thereafter. He was rushed to a nearby hospital, where intermittent hemoptysis continued over the next several hours. However, the bleeding subsided, and eventually he was sent home. Imaging showed a severely dilated pulmonary artery. Echocardiography demonstrated a large ASD, and a hypertrophied RV with normal function.
Over the ensuing months, the patient experienced several more episodes of hemoptysis. The episodes usually occurred while at home, and not in association with significant exertion or medical illness. On several of these occasions he was again observed to lose consciousness temporarily. On each occasion he was watched closely in either his local hospital or the regional tertiary care center, and bleeding subsided with bed rest and oxygen.
He was seen in the outpatient setting for consultation about how to best resolve the recurring hemoptysis.
Comments: Down syndrome, or trisomy 21, is the most common chromosomal abnormality occurring in roughly 1 in 700 live births. Early mortality can be as high as 10% to 20%, and is nearly always attributable to CHD.
Although Down syndrome should never be considered a rationale to not offer a patient a surgical correction of a heart defect, surgical correction was not always offered to these patients.
The patient has probably developed Eisenmenger physiology. However, his only known shunt is an ASD, which would not necessarily be expected to cause Eisenmenger syndrome at all or this early. One therefore should be suspicious that there may be another shunt.
High uric acid levels can be seen in cyanotic heart disease. Allopurinol is indicated as chronic therapy only if episodes of acute gout occur (for secondary prevention) but is not recommended otherwise.
The acute management of hemoptysis is discussed elsewhere (see Case 73 ). Hemoptysis in a pulmonary hypertensive patient should prompt a focused search for a specific and treatable cause. The patient should receive oxygen and blood products (latter not usually necessary) if needed. Bronchoscopy should be avoided. The loss of consciousness here was felt to have been vagal, rather than reflecting an arrhythmia. No evidence of sustained arrhythmia was ever noted.
CURRENT SYMPTOMS
The patient had fairly good exercise tolerance. He would complain to family members of dyspnea only after walking for 20 minutes or so on flat ground. Otherwise, he pursued any activity he wished, including climbing steps. He had mild joint aches on occasion. He denied palpitations or syncope other than during hemoptysis.
NYHA class: I–II
Comments: Bouts of hemoptysis are usually not predictable by any premonitory symptoms.
PHYSICAL EXAMINATION
BP 112/70 mm Hg, HR 93 bpm, oxygen saturation 82% (finger), 83% (toes)
Height 160 cm, weight 56 kg, BSA 1.58 m 2
Surgical scars: None
Neck veins: Jugular venous waveform was normal. There was no elevation of the central venous pressure.
Lungs/chest: Clear in all fields
Heart: Regular rate and rhythm with normal first heart sound and a loud pulmonary component of the second heart sound. There was a right ventricular lift. No systolic or diastolic murmurs were audible.
Abdomen: Soft, not tender, with no organomegaly present
Extremities: Clubbing and cyanosis were visible in all nail beds. The skin was warm and dry.
Comments: The findings here are all consistent with a stable patient with Eisenmenger syndrome, namely cyanosis, clubbing, an RV lift, and a loud second heart sound.
LABORATORY DATA
| Hemoglobin | 16 g/dL (13.0–17.0) |
| Hematocrit/PCV | 55% (41–51) |
| MCV | 84 fL (83–99) |
| Platelet count | 75 × 10 9 /L (150–400) |
| Sodium | 141 mmol/L (134–145) |
| Potassium | 4.2 mmol/L (3.5–5.2) |
| Creatinine | 1.1 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 6.9 mmol/L (2.5–6.5) |
OTHER RELEVANT LAB RESULTS
| Iron | 8.5 µmol/L (12.6–26.0) |
| Ferritin | 19 µg/L (30–233) |
| Transferrin sat | 18% (20–45) |
Comments: Although the hemoglobin and hematocrit are high, they are inappropriately low for the level of hypoxemia in this patient, whose hemoglobin should be in the 20 to 22 range. A reasonable prediction of optimal hemoglobin would in this case give an estimate of 21 g/dL. Despite the normal MCV, the patient has iron deficiency. MCV is not a reliable screening tool for iron deficiency in cyanotic heart disease. Serum ferritin for a stable patient and transferrin saturation under most circumstances are better markers of iron deficiency and should be routinely requested for patients with chronic cyanosis and secondary erythrocytosis.
Frequent hemoptysis is likely to be contributory to both iron deficiency and the relatively low hematocrit. It is advisable to have baseline laboratory values for all patients for comparison during an acute episode such as hemoptysis; blood products to correct abnormalities during an acute episode may occasionally be required.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 76 bpm
QRS axis: +147°
QRS duration: 119 msec
Sinus rhythm with first-degree AV block. Right-axis deviation with RV hypertrophy.
Comments: These are typical findings of Eisenmenger syndrome, with right-axis deviation and RV hypertrophy. There is no evidence of left-axis deviation as might be expected in the AVSD most typically seen in Down syndrome (a superior axis is present in 95% of patients with AVSD).
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 63%
Note the RA border, seen better at its mid/lower part, against the massive dilatation of the right pulmonary artery.
Cardiomegaly is present. There is enlargement of the main pulmonary artery. The discrete bulge in the right chest, the inferior aspect of which is calcified, is the giant right pulmonary artery.
Comments: This dramatic CXR reflects mostly a giant aneurysm of the right pulmonary artery. Sometimes seen in patients with PAH, in the Eisenmenger setting one may suspect the presence of thrombus within the aneurysm, as in this case. (See Fig. 74-5 .)
The cardiothoracic ratio can be difficult to determine in cases such as this, but the right atrial border in this instance is still visible.
EXERCISE TESTING
Not performed
Comments: Recurrent hemoptysis may be considered a relative contraindication to exercise testing. Although the risk is unproven, fear of inducing further hemoptysis by increased ventilation may deter clinicians from ordering the test, at least until the patient is stable.
ECHOCARDIOGRAM
OVERALL FINDINGS
There was a large ASD with predominant right-to-left shunting. The RV was severely hypertrophied with preserved systolic function. The LV had mildly reduced systolic function. There was no VSD. There was no significant mitral or tricuspid regurgitation.
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