Background
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Case presentation
A 40-year-old woman after correction of tetralogy of Fallot (ToF) was admitted to hospital due to deterioration in exercise tolerance (NYHA functional class III). Surgical correction was performed at the age of 3 years. She was operated again due to residual ventricular septal defect in 2003. A dual chamber pacemaker was implanted due to sick sinus syndrome associated with paroxysmal atrial fibrillation in 2005. She was hospitalized at December 2012 due to symptomsof heart failure. Current treatment included warfarin 5mg q.d. and metoprolol CR 50mg q.d. Physical examination revealed holosystolic murmur with a thrill at fourth left intercostal space. Weight was 45 kg, height 159 cm, BP 110/80 mmHg, HR 90 bpm. Regular normal breath sounds were heard, no cyanosis. Routine laboratory tests were within normal limits, except of elevated NT-proBNP level (1600 pg/ml).
Resting ECG showed sequential atrial and ventricular pacing. Holter monitoring didn’t reveal cardiac arrhythmias and pacing disturbances. The cardiopulmonary exercise testing (CPET) showed reduced exercise tolerance and a reduction in maximal oxygen consumption (VO2 max 14,2 ml/kg/min). The observed values were significantly lower compared to CPET performed in February 2011 (22 ml/kg/min) and October 2010 (23 ml/kg).
The transthoracic echocardiography revealed numerous abnormalities :
• enlargement of all heart chambers: right ventricle end-diastolic area – 48cm2 (twice its normal size), left ventricle end-diastolic diameter – 58mm, 36mm/m2 BSA, left atrial area at ventricular end-systole – 24cm2, right atrial area at ventricular end-systole – 32cm2
• impaired right ventricular systolic function: RV fractional area change (FAC) was 31%, tricuspid annular plane systolic excursion (TAPSE) – 14mm
• paradoxical septal motion
• preserved left ventricular ejection fraction (LVEF) – 62%
• residual perimembraneous ventricular septal defect (residual VSD) with left to right shunting
• severe pulmonary valve regurgitation assessed by dense/steep jet deceleration, early termination of diastolic flow, shortened pressure half-time (68ms) and wide origin of PR jet > 50% annular width
• elevated pressure gradient across the pulmonary valve -15 mmHg
• dilated pulmonary trunk and it’s branches
• mild aortic regurgitation
• moderate to severe tricuspid regurgitation assessed by vena contracta width (VCW) – 6mm, tricuspid E wave velocity 0,9m/s and effective regurgitant orifice area (EROA) – 0,42cm2
• dilated tricuspid annulus (four chamber diameter was 56mm)
• elevated right ventricular systolic pressure estimated by:
–difference between left ventricular systolic peak systolic pressure and interventricular pressure gradient through residual VSD (RVSP = LVSP – VSD gradient; 120 – 60 = 60mmHg)
–tricuspid regurgitation gradient (40mmHg, Vmax 3,2m/s) and right atrial pressure (RVSP = TRPG + RAP; 40+15 = 55mmHg)
Current guidelines
According to ESC Guidelines the indications for intervention after repair of Fallot’s syndrome include:
1. Aortic valve replacement in patients with severe aortic regurgitation with symptoms or signs of left ventricular dysfunction (I C)
2. Pulmonary valve replacement in symptomatic patients with severe pulmonary regurgitation and/or stenosis (right ventricle systolic pressure >60 mmHg, tricuspid regurgitation velocity >3.5m/s) (I C)
3. VSD closure in patients with residual VSD and significant left ventricle volume overload or if the patient is undergoing pulmonary valve surgery (IIaC)
4. Pulmonary valve replacement in asymptomatic patients with severe pulmonary regurgitation and/or stenosis when at least one of the following criteria is present:
Decrease in objective exercise capacity
Progressive right ventricular dilation or systolic dysfunction
Progressive tricuspid regurgitation (at least moderate)
Right ventricular outflow tract obstruction with right ventricle systolic pressure >80 mmHg (tricuspid regurgitation velocity >4.3 m/s)
Sustained atrial/ventricular arrhythmias (IIaC)
References
1. ESC Guidelines for the management of grown-up congenital heart disease. European Heart Journal (2010) 31, 2915–2957
2. Oosterhof T, van Straten A, Vliegen HWet al. Preoperative thresholds for pulmonary valve replacement in patients with corrected tetralogy of Fallot using cardiovascular magnetic resonance. Circulation 2007;116:545–551.
Expert’s comments:(Written authorization required from each expert)
1. Prof Andrzej Biderman MD, PhD
The patient is symptomatic. The surgery is high risk but there may be only think we can do to reduce symptoms of heart failure.
2. Prof Lesław Szydłowski MD, PhD
Surgery is high risk. The patient should be in detail inform about risk and should sign conscious permission to surgery.
3. Bogusłw Kapelak MD, PhD
High risk surgery. VSD correction is difficult but technically possible. Pulmonary valve replacement is indicated. Tricuspid valve repair should be taken into account. I suggest intraoperative evaluation of tricuspid valve. The catheterization should be performed before surgery.
4. Jacek PajakMD, PhD
There are several indication for complex operation according to ESC guidelines. The patient has significant left to right shunt through the residual VSD which should be closed. Severe pulmonary valve and tricuspid valve regurgitation are also strong indication for surgical implantation of pulmonary valve in time of residual VSD closure.
Expert’s conclusions:
The patient was qualified for surgical closure of residual ventricular septal defect, pulmonary valve replacement and tricuspid valve repair. The patient shoul be informed about high risk of surgery.
Authors:
Lidia Tomkiewicz-Pająk MD, PhD1, Leszek Drabik MD. PhD1, Prof. Maria Olszowska MD. PhD1, Prof. Piotr Podolec MD, PhD1.
Experts:
Prof. Andrzej Biderman MD, PhD, Prof Lesław Szydłowski MD, PhD, Boguslaw Kapelak MD, PhD, Jacek Pajak MD, PhD
1Department of Cardiac and Vascular Disease in John Paul II Hospital, Institute of Cardiology, Faculty of Medicine, Jagiellonian University, Krakow, Poland.
