Tetralogy of fallot with aortic valvular stenosis and deletion 22q11: Reply

Abstract

We thank Dr Marino and colleagues for their extremely interesting letter raising several fascinating points. It is well known that 22q11 deletion is associated with a number of conontrucal anomalies like tetralogy of Fallot (TOF) or truncus. In TOF with 22q11, they suggest that it has been reported as coexisting with small central pulmonary arteries with an absent infundibular septum, exactly like in our case. However, it is pure speculation that the lesion is associated with aortic bicuspid valve. It is true that there are pathogenic similarities between TOF and truncus malformation in which a bicuspid truncal valve is sometimes present [1Van Praagh R. Van Praagh S. Nebesar R.A. Muster A.J. Sinha S.N. Paul M.H. Tetralogy of Fallot underdevelopment of the pulmonary infundibulum and its sequelae.Am J Cardiol. 1970; 26: 25-33Abstract Full Text PDF PubMed Scopus (144) Google Scholar].In our case, neither valve was a truncal valve. There was a pulmonary valve (also bicuspid) and the bicuspid stenotic aortic valve we described, which is practically unreported with tetralogy of Fallot. The combination has even been considered as two independent conditions associated only by chance [2Van Praagh, McNamara JJ. Anatomic types of ventricular septal defect with aortic insufficiency: diagnostic and surgical considerations. Am Heart J 1968;75:604–19Google Scholar].We appreciate the idea of correlating several features and several congenital heart diseases in a spectrum where a chromosomic abnormality is a chef d’orchestre. Nevertheless, we doubt the relationship contemplated in the letter by Dr Marino and colleagues, when we consider the frequency of 22q11 and the rarity of associated aortic valve stenosis with TOF. In addition we do not know the basis for concluding that the high rate of spontaneous intrauterine death explains the rarity of aortic valve stenosis in TOF which is not even noted in a very recent book on pediatric cardiology.Finally we would like to thank Dr Marino and colleagues for their stimulating letter and appreciate their interest in our report. We thank Dr Marino and colleagues for their extremely interesting letter raising several fascinating points. It is well known that 22q11 deletion is associated with a number of conontrucal anomalies like tetralogy of Fallot (TOF) or truncus. In TOF with 22q11, they suggest that it has been reported as coexisting with small central pulmonary arteries with an absent infundibular septum, exactly like in our case. However, it is pure speculation that the lesion is associated with aortic bicuspid valve. It is true that there are pathogenic similarities between TOF and truncus malformation in which a bicuspid truncal valve is sometimes present [1Van Praagh R. Van Praagh S. Nebesar R.A. Muster A.J. Sinha S.N. Paul M.H. Tetralogy of Fallot underdevelopment of the pulmonary infundibulum and its sequelae.Am J Cardiol. 1970; 26: 25-33Abstract Full Text PDF PubMed Scopus (144) Google Scholar]. In our case, neither valve was a truncal valve. There was a pulmonary valve (also bicuspid) and the bicuspid stenotic aortic valve we described, which is practically unreported with tetralogy of Fallot. The combination has even been considered as two independent conditions associated only by chance [2Van Praagh, McNamara JJ. Anatomic types of ventricular septal defect with aortic insufficiency: diagnostic and surgical considerations. Am Heart J 1968;75:604–19Google Scholar]. We appreciate the idea of correlating several features and several congenital heart diseases in a spectrum where a chromosomic abnormality is a chef d’orchestre. Nevertheless, we doubt the relationship contemplated in the letter by Dr Marino and colleagues, when we consider the frequency of 22q11 and the rarity of associated aortic valve stenosis with TOF. In addition we do not know the basis for concluding that the high rate of spontaneous intrauterine death explains the rarity of aortic valve stenosis in TOF which is not even noted in a very recent book on pediatric cardiology. Finally we would like to thank Dr Marino and colleagues for their stimulating letter and appreciate their interest in our report.