Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?

Giulio Calcagni,Andrea De Zorzi,Lorenzo Galletti,Anwar Baban,Benedetta Leonardi,Francesco Bianco,Maria Giulia Gagliardi,Massimo Caputo,Aurelio Secinaro,Rosaria Barracano,Stefani Silva Kikina,Marco Pozzi,Maria Cristina Digilio,Camilla Calvieri,Berardo Sarubbi,Marco Alfonso Perrone,Andrea Madrigali,Fabrizio Drago

doi:10.3390/jcm11030850

Abstract

Background: The impact of genetic syndromes on cardiac magnetic resonance imaging (cMRI) parameters, particularly on right and/or left ventricular dysfunction, associated with clinical parameters following the repair of Tetralogy of Fallot (rToF) is not well known. Therefore, this study aimed to assess the differences in clinical, surgical, and cMRI data in syndromic and non-syndromic rToF patients. Methods: All syndromic rToF patients undergoing a cMRI without general anesthesia between 2010 and 2020 who were able to match with non-syndromic ones for birth date, sex, type of surgery, timing of cMRI, and BSA were selected. Demographic, clinical, surgical, MRI, ECG, and Holter ECG data were collected. Results: A total of one hundred and eight rToF patients equally subdivided into syndromic and non-syndromic, aged 18.7 ± 7.3 years, were studied. Del22q11.2 and Down syndrome (DS) were the most frequent syndromes (42.6% and 31.5%, respectively). Regarding the cMRI parameters considered, left ventricular (LV) dysfunction (LVEF < 50%) was more frequently found in syndromic patients (p = 0.040). In addition, they were older at repair (p = 0.002) but underwent earlier pulmonary valve replacement (PVR) (15.9 ± 5.6 vs. 19.5 ± 6.0 years, p = 0.049). On multivariate Cox regression analysis, adjusted for age at first repair, LV dysfunction remained significantly more associated with DS than del22q11.2 and non-syndromic patients (HR of 5.245; 95% CI 1.709–16.100, p = 0.004). There were only four episodes of non-sustained ventricular tachycardia in our cohort. Conclusions: Among the cMRI parameters commonly taken into consideration in rToF patients, LV dysfunction seemed to be the only one affected by the presence of a genetic syndrome. The percentage of patients performing PVR appears to be similar in both populations, although syndromic patients were older at repair and younger at PVR. Finally, the number of arrhythmic events in rToF patients seems to be low and unaffected by chromosomal abnormalities.

Highlights

Tetralogy of Fallot (ToF), the most common cyanotic congenital heart disease (CHD), can be associated with various genetic syndromes [1,2]
We selected all syndromic repair of Tetralogy of Fallot (rToF) patients who were able to perform a cardiac magnetic resonance imaging (cMRI) examination without general anesthesia between May 2010 and August 2020 and who could be matched for date of birth, age, sex, body surface area (BSA), surgical approach, and date of cMRI with non-syndromic rToF ones
In asymptomatic patients, pulmonary valve replacement (PVR) was performed when two or more of the following cMRI parameters were present: right ventricular (RV) end-diastolic volume indexed by BSA (RVEDVi) ≥ 150 mL/m2; RV end-systolic volume indexed by BSA (RVESVi) ≥ 80 mL/m2; RV ejection fraction (RVEF) ≤ 47%; pulmonary regurgitation fraction (PRF) ≥ 40%; left ventricular (LV) ejection fraction (LVEF) ≤ 55%; moderate or greater tricuspid regurgitation; RV outflow tract obstruction with RV systolic pressure ≥ 0.7 systemic [20]

Summary

Introduction

Tetralogy of Fallot (ToF), the most common cyanotic congenital heart disease (CHD), can be associated with various genetic syndromes [1,2]. Del22q11 is characterized by a wide range of features, whose different expressions in the individual patient can significantly modify the clinical picture and outcome This is even more true for cardiac pathologies, which in most cases include ToF with associated pulmonary valve atresia, interrupted aortic arch type B, truncus arteriosus, relatively important involvement of the pulmonary arteries up to major aortopulmonary collaterals, and absence of a pulmonary artery [4,15]. Regarding the cMRI parameters considered, left ventricular (LV) dysfunction (LVEF < 50%) was more frequently found in syndromic patients (p = 0.040) They were older at repair (p = 0.002) but underwent earlier pulmonary valve replacement (PVR) (15.9 ± 5.6 vs 19.5 ± 6.0 years, p = 0.049). The number of arrhythmic events in rToF patients seems to be low and unaffected by chromosomal abnormalities

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