Age: 60 years
Gender: Female
Occupation: Seamstress
Working diagnosis: Tetralogy of Fallot
HISTORY
This patient was born during the closing days of World War II. She was noted to be cyanosed at birth. During childhood she had periods of breathlessness and was noted to squat. Because of severe breathlessness with exercise, she was referred for a right Blalock shunt at age 11. The right pulmonary artery could not be identified and the procedure was abandoned in the belief that she had pulmonary atresia.
Clinical examination at age 15 supported a diagnosis of TOF. Her ECG showed RV hypertrophy but no RBBB. At that time, cardiac catheterization confirmed an 18-mm VSD, subinfundibular stenosis, as well as valvular and supravalvular pulmonary stenoses. The pulmonary trunk measured 23 mm distal to the stenosis with both branches measuring 15 mm in diameter. The following year, she had a successful left-sided BT shunt procedure with a significant improvement in her exercise tolerance.
By the age of 25 she had adopted a lifestyle that avoided physical exertion. She underwent cardiac catheterization again in consideration of repair for her TOF. This revealed an infundibular gradient of 25 mm Hg and a valvular gradient of 70 mm Hg with good biventricular function. She was felt to be a good candidate for repair but she decided not to proceed with surgery.
She experienced a general decrease in her exercise tolerance over the next several years and increasingly relied on use of a wheelchair. Despite that, she was satisfied with her symptomatic status and was reluctant to consider any further surgery.
At age 45, echocardiography showed a right-sided aortic arch with a large aortic root overriding a subaortic VSD. The pulmonary valve was narrowed as was the proximal pulmonary trunk. The left Blalock shunt was reported as “apparently patent.” The echocardiogram showed mild RV enlargement with mild RV dysfunction but a normal-sized LV with good systolic function. The recommendation was made to proceed to cardiac catheterization and angiography as a prelude to reparative surgery. Despite this recommendation, the patient declined further intervention.
At age 50, she was seen in routine follow-up and complained of palpitation and was noted to have paroxysms of supraventricular and ventricular tachycardia. She was started on amiodarone with significant improvement in the palpitation but with the subsequent development of hyperthyroidism. The amiodarone was stopped, and good rhythm control was maintained on sotalol. Exercise testing at that time showed her walking on the Bruce protocol for 5:52, stopping with dyspnea (metabolic equivalents = 3). Oxygen saturation was 83% at rest, falling to 68% at peak exercise and recovering to 78% postexercise.
By age 60 she had noticed marked worsening in her ability to simply walk around the house. She attended the clinic on a routine annual visit and told her physician that she had stopped her sotalol 2 months earlier because of the dyspnea and fatigue. Despite stopping her medication, she had seen no improvement in her symptoms.
Comments: Life expectancy for unrepaired TOF is not encouraging. More than 95% are dead by the fourth decade, whereas after successful repair in childhood, 30-year survival has exceeded 90%. Palliated patients may develop pulmonary hypertension as a result of the arterial shunt procedure. For both palliated and unrepaired patients, the residual, large VSD will result in pressure overload of the RV and often in volume overload of the LV. This may lead to biventricular dysfunction and failure, exercise intolerance, and arrhythmias. The late course may be further complicated by thrombotic events or cerebral abscess. Death may result from congestive heart failure or may be sudden due to arrhythmia.
In adults being considered for complete repair of tetralogy, workup must involve assessment of right and left ventricular size and function as well as pulmonary artery (PA) size. Imaging to visualize major aortopulmonary collaterals is necessary. If these are identified they may be closed percutaneously before the reparative surgery. Assessment of PA pressure is especially important in individuals with previous palliation procedures because of the risk that iatrogenic pulmonary hypertension may have developed. Coronary artery origin anomalies (especially origin of the left anterior descending from the right coronary) can be documented by cardiovascular MRI, but careful consideration should be given to coronary angiography to rule out significant acquired coronary disease in the older patient.
The unrepaired heart in TOF develops RV pressure overload and sometimes LV volume overload with subsequent potential dysfunction of those chambers. These changes, over time, can form the basis for ventricular arrhythmias. Likewise, secondary enlargement of the atria provides the substrate for the atrial arrhythmia. Atrial arrhythmias are not well tolerated, and every effort should be made to maintain sinus rhythm. Unfortunately, late repair in these patients may not necessarily decrease their risk of ventricular and supraventricular arrhythmias.
PHYSICAL EXAMINATION
Thin, kyphotic woman with marked clubbing and cyanosis
BP 130/80 mm Hg (right arm), HR 40 bpm, oxygen saturation 77%
Height 170 cm, weight 43 kg, BSA 1.42 m 2
Surgical scars: Bilateral infrascapular thoracotomy scars
Neck veins: JVP at 6 cm with intermittent cannon A-waves
Lungs/chest: Kyphoscoliosis. Lung fields are clear.
Heart: Rhythm regular; RV lift. S1 normal; S2 single; 3/6 long systolic murmur along the left upper sternal border with a 2/6 diastolic murmur.
Abdomen: Liver was not enlarged.
Extremities: Mild peripheral edema
PERTINENT NEGATIVES
The thyroid was not enlarged.
Comments: The patient was small. Her body mass index is 14.9 kg/m 2 , which is very low, and clearly classifies her as cachectic by any criteria. Cachexia has been linked to survival in congenital heart disease patients.
Intermittent cannon A-waves show that the RA is contracting against a closed tricuspid valve, indicating loss of the usual AV association. This physical sign of AV dissociation may occur in the setting of ventricular tachycardia, complete heart block, or a paced ventricular rhythm. In this situation, that is, of a patient with bradycardia, the cannon A-waves provided clinical evidence of complete heart block. A first heart sound of variable intensity may be anticipated.
LABORATORY DATA
| Hemoglobin | 18.9 g/dL (11.5–15.0) |
| Hematocrit/PCV | 57% (36–46) |
| MCV | 101 fL (83–99) |
| Platelet count | 75 × 10 9 /L (150–400) |
| Sodium | 139 mmol/L (134–145) |
| Potassium | 4.0 mmol/L (3.5–5.2) |
| Creatinine | 0.78 mg/dL (0.6–1.2) |
Comments: An elevated hemoglobin is not only common but desirable in the patient with cyanosis. A hemoglobin in the normal range is inappropriate in such patients. If such a patient were relatively anemic, and if the patient were found to have iron deficiency, iron replacement should be initiated. Thrombocytopenia is frequently present in patients with cyanotic heart disease and may be associated with hemostatic abnormalities, which may occur in up to 20% of cyanotic patients. Decreased clotting factors, elevated INR and activated partial thromboplastin time, as well as thrombocytopenia have been encountered, with no clinical consequences in some patients and life-threatening hemorrhage in others.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 48 bpm
QRS axis: +118°
QRS duration: 160 msec
Sinus rhythm with third-degree AV block. Right-axis deviation and RBBB with associated ST and T anomalies. RA overload in V1.
Comments: Data on ECG prognostic markers and long-term follow-up in unrepaired patients are not available. The development of complete heart block was presumably responsible for her declining functional capacity.
CHEST X-RAY
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