State-of-the-Art Paper
Hot Topics in Tetralogy of Fallot

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Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. We explore “hot topics” to highlight areas of emerging science for clinicians and scientists in moving toward a better understanding of the long-term management of patients with repaired TOF. From a genetic perspective, the etiology of TOF is multifactorial, with a familial recurrence risk of 3%. Cardiac magnetic resonance is the gold standard assessment tool based on its superior imaging of the right ventricular (RV) outflow tract, pulmonary arteries, aorta, and aortopulmonary collaterals, and on its ability to quantify biventricular size and function, pulmonary regurgitation (PR), and myocardial viability. Atrial re-entrant tachycardia will develop in more than 30% of patients, and high-grade ventricular arrhythmias will be seen in about 10% of patients. The overall incidence of sudden cardiac death is estimated at 0.2%/yr. Risk stratification, even with electrophysiologic testing and cardiac magnetic resonance, remains imperfect. Drug therapy has largely been abandoned, and defibrillator placement, despite its high risks for complications and inappropriate discharges, is often recommended for patients at higher risk. Definitive information about optimal surgical strategies for primary repair to preserve RV function, reduce arrhythmia, and optimize functional status is lacking. Post-operative lesions are often amenable to transcatheter intervention. In selected cases, PR may be treated with transcatheter valve insertion. Ongoing surveillance of RV function is a crucial component of clinical assessment. Except for resynchronization with biventricular pacing, no medical therapies have been shown to be effective after RV dysfunction occurs. In patients with significant PR with RV dilation, optimal timing of pulmonary valve replacement remains uncertain, although accepted criteria are emerging.

Key Words

arrhythmias
imaging
pulmonary regurgitation
pulmonary valve replacement
sudden cardiac death
tetralogy of Fallot
ventricular function and heart failure

Abbreviations and Acronyms

BNP
B-type natriuretic peptide
CMR
cardiac magnetic resonance
ECHO
echocardiography
EF
ejection fraction
ICD
implantable cardioverter-defibrillator
LV
left ventricular
NYHA
New York Heart Association
PR
pulmonary regurgitation
PVR
pulmonary valve replacement
RV
right ventricular
SCD
sudden cardiac death
TAPSE
tricuspid annular plane systolic excursion
TOF
tetralogy of Fallot

Cited by (0)

Dr. Villafane is a consultant for Biomedical Systems. Dr. Jenkins is the primary investigator at the Data Coordinating Center of a Johns Hopkins Medical Center–sponsored study of Melody valve implantations (Medtronic, Inc., Minneapolis, Minnesota). Dr. Dubin has received educational support funding for a fellow-in-training at her institution from Medtronic. Dr. Rosenthal is a member of the clinical events committee for the Berlin Heart Post-Approval study. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.