(IV-2A.1) 56 -year-old male with Tetralogy of Fallot Joanna Łuszczak MD, Lidia Tomkiewicz- Pajak MD, Maria Olszowska MD, PhD, Prof. Piotr Podolec Md, PhD

Background
Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease. It is caused by the antero-superior 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 56-year-old man with uncorrected Tetralogy of Fallot. The patient was admitted to our center in June 2012 for further evaluation. He complained of decreased exercise capacity that had occurred 2 years before and palpitations. There was no history of chest pain or syncope. In 2008 the cardiac catheterization had been performed revealing perimembranous ventricular septal defect (VSD) with insignificant right-to-left shunt, pulmonary-to-systemic flow ratio (Qp:Qs) close to 1:1, equal systolic pressures in both ventricles and normal pulmonary artery pressure. Coronary angiogram excluded coronary artery stenosis. Because of almost asymptomatic status he was not qualified to surgical treatment. In 2011 conduction abnormalities had been diagnosed: I° and II° A-V block. In March 2012 in left atrial appendage and right atrium thrombus had been diagnosed and anticoagulative treatment was prescribed for the following tree months.
On admission to our hospital the patient suffered heart failure symptoms in clinical class II. Physical examination revealed systolic murmur best heard on upper left sternal border, finger clubbing, heart rate was irregular 40-55 bpm, blood pressure 100/70 mmHg, vesicular breath sounds. The liver edge was not palpable. The patient didn’t have peripheral edema. The blood saturation was 85 %. The laboratory tests revealed hemoglobin of 20.5 g/dl, haematocrit of 58.9%, red blood cells of 6.23 x10³/µl, creatynine of 114 µmol/l. White blood cells, platelets, hsCRP, ALT, AST were unremarkable. The ECG showed sinus rhythm 83 bpm, I° A-V block with PQ duration of 320 ms, periodically II° A-V block type Mobitz I, right ventricle hypertrophy and overload, increased voltage of P waves. The 24-hours ECG monitoring showed bradycardia and conduction disturbances: I° A-V blok, II° A-V block type Mobitz I, episodes of the A-V block 2:1. Minimal heart rate was 45 bpm at 11.40 PM, maximal heart rate 81 bpm at 7.15 AM and mean hart rate 56 bpm. The echocardiographic examination showed right atrium enlargement, right ventricle hypertrophy (free wall thickness of 7.5 mm), malaligned ventricular septal defect (VSD) with bidirectional shunt, right ventricle outflow tract obstruction (subvalvular stenosis) with the gradient of 98 mmHg. Left ventricle (LV) systolic function was normal with ejection fraction (EF) of 75% but LV diastolic function was impaired (E/A =0.55, E’= 0.07 m/s). There was a dilatation of the aortic bulb (42mm), mild aortic, mitral and tricuspide regurgitation. Transesophageal echocardiography confirmed confluens of the four pulmonary veins to left atrium end excluded atrial septal defect. The presence of thrombus was excluded. The cardiac catheterization was performed showing bidirectional flow trough the VSD, low pressure in the pulmonary artery, equal systolic pressures in RV and LV and subvalvular pulmonary stenosis with the pressure gradient of 120 mmHg, Qp:Qs=0.95:1 (table 1).
He was treated by ASA 75 mg, spironolactone 25 mg, theophilinum 150 mg and atropini sulfans. The patient’s medical history was presented on the Meeting of the Center for Rare Cardiovascular Diseases where was qualified to the surgical treatment. The patient was informed about increased surgical risk and gave the informed consent for the operation.

Table 1. Cardiac catheterization.

Expert’s comments:(Written authorization required from each expert)

1. Bogusław Kapelak MD, PhD ²
The patient should be qualified to the ToF correction and pacemaker implantation but the surgery risk is increased in comparison to younger subjects. The patient must be informed about high perioperative risk.

2. Lesław Szydłowski MD, PhD³
In this case symptoms of the heart failure can occur. There is poliglobulia. We have to observe the aortic bulb dilatation and aortic insufficiency. The use of diuretics should be considered.

3. Prof. Janusz Skalski MD, PhD ⁴
Patient should be operated. The anatomical conditions are good for the surgery. ToF correction should prolong life expectancy and improve the quality of life. The PFO should be created.

4. Jacek Bednarek, MD, PhD ⁵
Because of the bradycardia and atrio-ventricular conduction disturbances the pacemaker implantation is indicated.

5. Jacek Pająk MD, PhD ⁶
It should be noticed that for the all life of that patient cardiac output is generated by both ventricles. What will happen if we close the connection between them? Will left ventricle be able to generate sufficient cardiac output? The homograft implantation in right-ventricle outflow tract should be taken into account.

6.Piotr Musiłek ¹
Percutaneous attempt of the left pulmonary branch angioplasty would be the first consideration in my opinion. Surgery, includung a tricuspid ring, would be the second option and it should be preceded by a full reassessment of the patient.

Expert’s conclusions:
Correction of ToF and the pacemaker implantation should be performed. The patient should be informed about the surgery risk.

Authors:
Joanna Łuszczak MD¹, Lidia Tomkiewicz- Pajak MD¹, Maria Olszowska MD, PhD¹, Prof. Piotr Podolec Md, PhD¹, Jacek Bednarek, MD, PhD⁵, Jacek Pająk MD, PhD⁶, Piotr Musiłek¹

Experts:
Bogusław Kapelak MD, PhD², Lesław Szydłowski MD, PhD³, Prof. Janusz Skalski MD, PhD ⁴,

¹Department of Heart and Vascular Disease, John Paul II Hospital, Kraków, Poland
²Department of Cardiac, Vessels Surgery and Transplantology, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
³Department of Pediatric Cardiology, Medical University of Silesia, Katowice, Poland
⁴Department of Pediatric Cardiac Surgeryy, Polish-American Children’s Hospital, Jagiellonian University, Krakow, Poland
⁵Department of Electrocardiology, John Paul II Hospital, Kraków, Poland
⁶Independent 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