Age: 37 years
Gender: Male
Occupation: Renal perfusionist
Working diagnosis: Tetralogy of Fallot
HISTORY
Soon after birth a murmur was heard and the patient had cyanotic spells; the diagnosis of TOF was made. He did quite well during childhood and adolescence. Later, at age 20, he underwent repair, including closure of a VSD, resection of the RVOT obstruction and pulmonary valvotomy. A transannular RVOT patch was placed to relieve the obstruction. He recovered fully and led a normal life. He completed his education and became a medical engineer.
He was well until 1 year ago when he felt a rapid heartbeat on some occasions and shortness of breath when climbing stairs. His body weight gradually increased (10 kg over 6 months) with pretibial pitting edema. He visited a local internist and was prescribed diuretics. He was subsequently referred for further evaluation.
He is a nonsmoker.
Comments: In ACHD cases, the importance of obtaining and reading the operative notes cannot be overemphasized.
Patients with repaired TOF without significant residua (residual VSD or pulmonary stenosis) are usually well without symptoms.
The patient has developed shortness of breath, palpitations, and edema. Severe pulmonary regurgitation is not uncommon after TOF repair and can be associated with RV dysfunction, diminished exercise capacity, atrial and ventricular tachyarrhythmias (VTs) and sudden cardiac death. The VT usually originates from the RVOT and can be fatal. Atrial flutter may be observed in patients with tricuspid regurgitation. In some cases, aortic regurgitation with aortic root dilatation may be observed.
CURRENT SYMPTOMS
The patient could walk several blocks “on the flat” without difficulty but had shortness of breath and palpitations after climbing one flight of stairs. He slept well lying flat without dyspnea.
NYHA class: II
Comments: His symptoms had become worse just over the last several months, suggesting clinical deterioration.
CURRENT MEDICATIONS
Lasix 20 mg orally twice daily
Aldactone 25 mg orally twice daily
Digoxin 250 µg orally once daily
Enalapril 5 mg orally twice daily
Comments: ACE inhibitors are often used in patients with aortic regurgitation to prevent progression, even though there is no clinical trial evidence supporting this practice. Likewise, there are no data to support the use of ACE inhibitors or any other agent in preventing the consequences of severe pulmonary regurgitation.
PHYSICAL EXAMINATION
BP 103/40 mm Hg, HR 89 bpm, oxygen saturation 98% in room air
Height 182 cm, weight 72 kg, BSA 1.91 m 2
Surgical scars: Median sternotomy scar
Neck veins: Normal A-waves, elevated V-waves were observed
Lungs/chest: Chest was clear.
Heart: The first heart sound was normal. The second heart sound was widely split. A grade 3/6 midsystolic murmur was present at the third intercostal space near the left sternal border. A grade 3/6 blowing early diastolic murmur was present at the fourth intercostal space near the left sternal border.
Abdomen: Moderate hepatomegaly
Extremities: Moderate dependent edema
Face: No facial features suggestive of velocardiofacial syndrome (DiGeorge syndrome)
Comments: The low diastolic blood pressure and wide pulse pressure suggest there may be important aortic regurgitation.
An elevated V-wave is indicative of tricuspid regurgitation.
A widely split second heart sound with a systolic and diastolic murmur is commonly observed in patients with repaired TOF. The delayed pulmonary component reflects delayed pulmonary valve closure often due to a right bundle branch block. The systolic murmur is typically due to residual pulmonary stenosis (or RVOT turbulence due to a large stroke volume). A diastolic murmur is often caused by pulmonary regurgitation, though not always. In this instance, the high-pitched nature of the diastolic murmur indicates that this is caused by aortic regurgitation.
There is a 10% to 15% incidence of chromosome 22q11 microdeletion in TOF patients, and those with the anomaly usually show special facial appearance (velocardiofacial syndrome, or DiGeorge syndrome; see Case 28 ).
LABORATORY DATA
| Hemoglobin | 14.9 g/dL (13.0–17.0) |
| Hematocrit | 43% (41–51) |
| Sodium | 140 mmol/L (134–145) |
| Potassium | 4.0 mmol/L (3.5–5.2) |
| Creatinine | 0.6 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 13 mg/dL (6–24) |
| BNP | 167 pg/mL |
| ANP | 170 pg/mL |
Comments: Brain natriuretic peptide (BNP) and atrial natriuretic peptide (ANP) were grossly elevated in this patient, compatible with cardiac failure and/or biventricular enlargement, though there is still much to be learned about the significance of these markers in this patient population.
Other laboratory data were within normal limits.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 89 bpm
PR interval: 200 msec
QRS axis: −100°
QRS duration: 110 msec
Sinus rhythm with RA overload (peaked P-waves in V2–3). T-wave inversion in V1–4. Poor precordial R-wave progression. No classical evidence of RV hypertrophy.
Comments: While this case seems to be an exception, after TOF repair an RBBB is nearly universal because of the location of the bundle relative to the VSD. Left anterior hemiblock and/or bifascicular block are also common. Bifascicular block was once thought to be one of the predictors of complete AV block and sudden cardiac death in patients with TOF repair. However, this has not been confirmed in more recent studies. Instead, monomorphic VT combined with RV dilatation and pulmonary regurgitation is the major cause of sudden cardiac death in TOF after repair. QRS prolongation over time suggests RV conduction delay, which is related to both the risk of sustained VT and sudden cardiac death. In patients with prolonged QRS, further examination such as an exercise ECG, late potentials, and/or catheterization with electrophysiological study may be considered for refining the risk of VT and sudden cardiac death.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 62%
The cardiac silhouette was grossly enlarged with calcification in the RVOT. There was dilatation of the pulmonary arteries and ascending aorta. The RV and LV were also dilated.
Comments: Patients with repaired TOF often have dilatation of the RV, main pulmonary artery, and right pulmonary artery. RV dilatation is better seen on a lateral view. The left pulmonary artery may be hypoplastic due to pulmonary branch stenosis.
The ascending aorta in patients with TOF (even after repair) may be enlarged due to increased systemic flow and cystic medial necrosis in the aortic wall. Enlargement of the RA may be associated with tricuspid regurgitation.
The arch is left-sided in this case. Right-sided aortic arch is more commonly associated with enlargement of the aortic root.
ECHOCARDIOGRAM
OVERALL FINDINGS
The LVEDd was 56 mm. LV systolic function was normal. The RV cavity was enlarged, and systolic function was decreased. There was severe pulmonary regurgitation and moderate tricuspid regurgitation. The estimated RV pressure was 45 mm Hg. The estimated pressure gradient across the RVOT was 35 mm Hg.
FINDINGS
Echocardiography revealed no residual VSD. There was ascending aortic root dilatation (root diameter of 46 mm) with moderate aortic regurgitation.
Comments: Measurement of RV/LV size and assessment of RV/LV function by echo and change over time may be the best guide to optimal timing of intervention. This patient was diagnosed as having biventricular volume overload and RV dysfunction due to a combination of pulmonary regurgitation and aortic regurgitation with a dilated aortic root.
In our opinion, moderate aortic regurgitation with a dilated aorta and/or RV failure together with pulmonary regurgitation warrants consideration of surgery with aortic valve replacement and/or aortic repair. The leaflets themselves appear normal, and therefore the cause of regurgitation is most likely the dilated root.
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