Background
Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease. It is caused by the antero-supetior displacement of the infundibular septum what leads to the onset of the components of the ToF: malaligned ventricular septal defect (VSD), overriding aorta, right ventricular outflow tract obstruction (RVOTO) and, secondary, right ventricle (RV) hypertrophy. Uncorrected ToF has short life expectancy- about 25% of patients survive to age of 10 years and only 5% to age of 40 years[1,2]. However, long-term survivals were reported, even more than 80 years[3]. Nowadays ToF is operated in children under 18 months of old with the perioperative risk of death<1% [4]. The management of adult patients without previous ToF correction is more difficult. According to Attenhofer Jost et al. complete repair of ToF in patients over 40 years old is associated with 6% risk of death. Hovewer, after correction significant improvement in symptomatic status was observed. The 10-year survival rate was 73%, which was better than for patients without repair[5]. Another study analyzed outcome after ToF repair in group of patients with mean age of 26.6 years (range 18-67). The hospital mortality rate was 5.1 % and 15-year survival rate 68%, the improvement in functional class was also observed[6].
Case presentation
We present a case of a 59-year-old man with uncorrected Tetralogy of Fallot. The patient was admitted to our center in July 2012 for further evaluation. He was without symptoms and he worked as a farmer. There was no history of chest pain or syncope. The heart defect had been diagnosed few months before.
On admission to our hospital the patient had no symptoms. Physical examination revealed systolic murmur best heard on upper left sternal border, finger clubbing, heart rate was regular 70 bpm, blood pressure 120/70 mmHg, vesicular breath sounds. The liver edge was not palpable. The patient didn’t have peripheral edema. The blood saturation was 96%. The laboratory tests revealed haemoglobin of 16.6 g/dl, haematocrit of 47%, red blood cells of 5.34×106/µl . The 24-hours ECG monitoring showed sinus rhythm with ventricular extrasystolias 13.320, VT. After opacorden treatment 24-hours ECG monitoring showed sinus rhythm with reduction of ventricular extrasystolias. The echocardiographic examination showed right atrium enlargement, malaligned ventricular septal defect (VSD), right ventricle outflow tract obstruction (subvalvular stenosis) with the gradient of 103 mmHg. Left ventricle and right ventricle systolic function were normal. Cardiopulmonary exercise test showed normal exercise capacity. The cardiac catheterization was performed showing the VSD, low pressure in the pulmonary artery, equal systolic pressures in RV and LV and subvalvular pulmonary stenosis with the pressure gradient of 90 mmHg
He was treated by spironolactone 25 mg, opacorden 300 mg/day. The patient’s medical history was presented on the Meeting of the Center for Rare Cardiovascular Diseases where was qualified to the further observation.
References
1. Bertranou EG, Blackstone EH, Hazelrig JB et al. Life expectancy without surgery in tetralogy of Fallot. Am J Cardiol. 1978;42:458-466.
2.Baumgartner H, Bonhoeffer P, De Groot NM et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 2010;31:2915-57
3.Gorla R, Macchi A, Franzoni I, et al. Unrepaired tetralogy of fallot in an 85-year-old man.
Congenit Heart Dis. 2012;7:E78-81
4. Reddy VM, Liddicoat JR, McElhinney DB et al. Routine primary repair of tetralogy of Fallot in neonates and infants less than three months of age. Ann Thorac Surg 1995;60:S592–S596.
5. Attenhofer Jost CH, Connolly HM, Burkhart HM et al. Tetralogy of fallot repair in patients 40 years or older. Mayo Clin Proc. 2010;85:1090-4.
6. Atik FA, Atik E, da Cunha CR, Caneo LF, Assad RS, Jatene MB, Riso A, Barbero-Marcial M.Long-term results of correction of tetralogy of Fallot in adulthood. Eur J Cardiothorac Surg. 2004;25:250-5.
Expert’s comments:(Written authorization required from each expert)
1. Bogusław Kapelak, MD, PhD
Asymptomatic patient with ToF should be observed. The risk of surgery is very high.
2. Jacek Pająk, MD, PhD
ToF asymptomatic patients with preserved right ventricle function and with normal exercise tolerance. He should be qualify for further farmacological treatment and observation.
3. Grzegorz Kopeć MD, PhD
Surgical treatment of ToF is usually performed in early childhood. The first procedures are usually palliative and aimed at increase of pulmonary flow through the pulmonary artery. The corrective surgery is usually preformed between 6. and 18. month of life. It involves ventricular septal defect closure, resection of infundibular muscle, pulmonary valvotomy, right ventricular outflow tract patch, transannular patch, pulmonary valve implatnation, extracardiac right ventricular – pulmonary artery conduit, closure of patent foramen ovale or ASD.
Morbidity of adult survivors of ToF without previous surgery is high due to right ventricular heart failure or arrhytmias. Therefore for this patients operation is still recommended. However morbidity and mortality in these patients is much higher than in patients operated at childhood.
Expert’s conclusions:
Patient was qualified for optimal medical therapy and regular check-up at this point.
Authors:
Lidia Tomkiewicz- Pajak MD., PhD.1, Joanna Luszczak MD.1, Prof. Piotr Podolec MD., PhD1.
Experts:
Bogusław Kapelak MD, PhD2, Jacek Pająk MD, PhD3, Grzegorz Kopeć MD, PhD4
1Departement of Cardiac and Vascular Diseases, John Paul II Hospital, Krakow, Poland
2Department of Cardiac, Vessels Surgery and Transplantology, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
3Independent Public Clinical Hospital No.6 Medical University of Silesia in Katowice, Upper Silesia Center of the children’s Health. John Paul II, Pediatric Heart Surgery Department Poland
4Department of Cardiac and Vascular Diseases, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
