Background
Tetralogy of Fallot is a congenital cyanotic heart defect composed of four characteristics: large ventricular septal defect (VSD) – malaligment type, overriding aorta, right ventricular hypertrophy and right ventricular outflow obstruction. The location of the obstruction can be anywhere along the right ventricular outflow-infundibulum, pulmonic valve, the annulus of the pulmonic valve, the main pulmonary arteria (PA), or in the branch or peripheral pulmonary arteries. The degree of obstruction in the right ventricle outflow truck can range mild to severe (pulmonary atresia). The flow through the VSD is proportional to the relationship of pulmonary vascular resistance (PVR) to systemic vascular resistance (SVR). Without treatment, 25% of infants with ToF and pulmonary stenosis die in the first year of life, 40% will die by the age of 4 years, 70% by 10 years, and 95% by 40 years. Surgical definite correction is the fundamental treatment, it should be performed in early childhood.
Case presentation
We present 43-year old patient with uncorrected tetralogy of Fallot. The Patient was diagnosed with heart defect in early childhood. He doesn’t remember the exact time of the diagnosis, it could have been when he was four years old. Parents have always found his son in good condition. They visited their pediatrician only once or twice a year in case of infections. There were no serious problems in his early youth.
In 2002 33-y.o. patient was in Silesian Center of Cardiac Diseases, Zabrze for control exams. Basing on those results doctors proposed him an operation, but he refused.
Since 2005 the patient has been under control of cardiac ambulatory. In 2007 24-hours ECG monitoring showed about 5000 single ventricular ectopies (VEs) and 5 episodes of
non-sustained ventricular tachycardia (nsVT). On this base cardiologist applied amiodaron to his therapy. In 2011 hyperthyreosis was developed by amiodaron and that was the reason the patient stopped to use amiodaron.
In November 2012 the patient was admitted to our Department of Cardiology in Katowice, because he has observed he had been more fatigue for last 2 months – the second class according to NYHA. Basing on the tests the following was stated: overweight (body weight 91 kg, height 176 cm, BMI 29.4), correct blood pressure (120/70 mmHg), decreased arterial blood saturation ( in rest 92%). In ECG we observed the sinus rhythm 80 beats per minute, right bundle branch block, the time of QRS 120-130 miliseconds. There were a few abnormalities in the laboratory tests: mild erythrocytosis (RBC 5.67 x 106/ul), increased hematocrit (55%), subclinical hyperthyreosis and impaired fasting glucose.
We did noninvasive tests such as: 24-ECG monitoring – without serious arrythmias, ECG stress test – we observed desaturation of arterial blood on the peak of exercise (92% to 72%) and single ventricular ectopies in the rest.
Both transthoracic (TTE) and transoesophageal (TEE) echocardiography were performed. We saw good function of left ventricle with ejection fraction 60%, we established end diastolic diameter (EDD) 47 mm, end systolic diameter (ESD) 29 mm, we observed good function of right ventricle also – tricuspid annular plane systolic excursion (TAPSE) 25 mm, correct right ventricle inflow tract (RVIT) diameter 38 mm, a mild mitral regurgitation, a mild tricuspid regurgitation with V max 2,9 m/s. We noticed the overriding aorta and the ventricular septal defect – malaligment type with left to right flow, we measured the gradient – 43 mmHg. In TEE we established the diameter of malaligment type defect: 4-5 mm and we observed in diastole inversion right to left flow through the of VSD. In TTE we could observe the additional ventricular septal defect – muscular type with the left to right flow, we measured the velocity and the gradient through the muscular defect – 3 m/s, 36 mmHg. In parasternal short axis view there is the turbulence flow in the right ventricle outflow truck with maximal velocity about 5 m/s and the maximal gradient 114 mmHg. Neither aortic regurgitation nor pulmonary regurgitation were observed. In TEE in right ventricle inflow-outflow view we saw the right ventricular outflow obstruction. Measurement of the gradient there was not possible, because of incorrect Doppler angle and unfortunately transgastric view was blurred. In TEE we noticed one more abnormality – persistent foramen ovale with small spontaneous left to right flow (11 mm length, 6 mm width).
During hospitalization we tried to persuade patient into right heart catheterization and to operation. The patient refused both the exam and the operation.
Current guidelines
Patients with ToF should be operated in first four years of life. There are no guidelines regard to adult with uncorrected ToF.
Expert’s comments:(Written authorization required from each expert)
1. Prof. Lesław Szydłowski MD, PhD
The patient refused operation in the past because he was well. In the future arrhythmia will progress, each year will be worse. The patient has good conditions for total correction. Now the patient needs right heart catheterization. Hybrid operation with amplatzer (muscular type of VSD) should be taken into account.
2. Prof. Andrzej Biederman MD, PhD
The patient is a good candidate for total correction.
3. Lidia Tomkiewicz-Pająk MD
The patient feels good, but he should be persuaded into operation, because every day the heart failure will intensify.
4. Prof. Henryk Siniawski MD, PhD
The patient should be operated in close future because in 10-years he may become a candidate for transplantation.
5. Prof. Katarzyna Mizia-Stec MD, PhD
The patient needs a right heart catheterization and total correction of the heart defect. There are no indication for ICD now.
Expert’s conclusions:
1. Do right heart catheterization.
2. Persuade the patient to undergo operation (total correction).
Authors:
lek. Agnieszka Sikora-Puz1, dr n.med. Maciej Haberka1, dr n.med. Leszek Szymański1, lek. Piotr Pysz1, prof. dr hab. n. med. Zbigniew Gąsior1
Experts:
Prof. Andrzej Biederman MD, PhD; Prof. Lesław Szydłowski MD, PhD; Lidia Tomkiewicz-Pająk MD, PhD; Prof. Henryk Siniawski MD, PhD; Prof. Katarzyna Mizia-Stec MD, PhD
1Katedra i Klinika Kardiologii, ul. Ziołowa 45-47 Katowice Ochojec
