Tetralogy of Fallot with Congenital Aortic Valvar Stenosis: The Tetralogy–Truncus Interrelationship

Abstract

Two rare patients are reported with tetralogy of Fallot and congenital aortic valvar stenosis. The anatomic and developmental interrelationship between tetralogy of Fallot and truncus arteriosus is summarized. A study of 100 randomly selected postmortem cases of tetralogy revealed aortic valve pathology in 8%, myxomatous aortic valve leaflets without stenosis in 4%, bicuspid aortic valves without stenosis in 3%, and congenital aortic valvar stenosis in 1%. The frequency of systemic semilunar valve pathology in truncus was much higher (66%): moderate to marked myxomatous change in 44%, mild myxomatous change in 22%, truncal valvar stenosis in 11%, and truncal valvar regurgitation in 15%. Being aware of the tetralogy-truncus interrelationship and knowing that myxomatous aortic valves are prone to premature calcific aortic stenosis and/or regurgitation, physicians should follow the aortic valves of surgically repaired patients with tetralogy of Fallot and truncus arteriosus long term with great care. Timely aortic valvuloplasty or replacement may well prove life-saving in such patients.

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

“…The increase in risk for Tetralogy of Fallot and aortic stenosis may reflect a developmental relationship between these two defects. Common determinants for Tetralogy of Fallot and aortic stenosis have been postulated based on the co-occurrence of the two lesions [Aru et al, 2006]. The MTHFD1 653QQ genotype may constitute an important modifier for developmental mechanisms which are common to both lesions.…”

A Late Presentation of Tetralogy of Fallot with Pulmonary Atresia and Coronary-Pulmonary Artery Collateral and a Congenital Aortic Stenosis

“…In a postmortem study of 100 patients with tetralogy of Fallot, congenital aortic valvular stenosis was found in only 1 case, 4 and in a registry reported by Ermis and colleagues of the 428 cases of tetralogy of Fallot without pulmonary atresia, 3 (0.7%) had a bicuspid valve 5 . In patients with tetralogy of Fallot with pulmonary atresia there are four reported cases with congenital aortic stenosis 4–6 . However, these cases did not have a coronary‐pulmonary collateral circulation.…”

Unusual association of aortic valve stenosis with ventricular septal defect and pulmonary atresia: Differentiation from truncus arteriosus with truncal valve stenosis

“…[1–3] It can be easily confused with the more common truncus arteriosus with truncal valve stenosis. [45]…”