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Ann Thorac Surg 1998;66:980
© 1998 The Society of Thoracic Surgeons

Correspondence

Severe truncal valve dysplasia: association with digeorge syndrome?

Bruno Marino, MDa, Maria Cristina Digilio, MDa, Bruno Dallapiccola, MDa

a Pediatric Cardiology and Medical Genetics, Piazza Sant’Onofrio, 4, 00165 Rome, Italy

To the Editor

We read the interesting article by McElhinney and associates [1] on surgical treatment of truncal valve insufficiency. Unfortunately, they did not report on the presence of DiGeorge syndrome in their large series of patients.

The presence of DiGeorge and related syndromes with microdeletion 22q11 may complicate the clinical picture of neonates with truncus arteriosus [2], and peculiar anatomic subtypes may characterize this association of anomalies [2]. In our experience, among 7 patients with truncus arteriosus and microdeletion 22q11, 3 neonates (1 with type A1 and 2 with type A3) showed severe malformation and dysplasia of the truncal valve consisting of insufficiency in 2 patients and significant stenosis in 1 [3].

Because tetralogy of Fallot with dysplastic or absent pulmonary valve is frequently associated with DiGeorge syndrome and microdeletion 22q11 [,4 5], it would be interesting to know if in a large series of patients with truncus arteriosus there is also a nonrandom association between severe truncal valve dysplasia with insufficiency or stenosis and DiGeorge syndrome with microdeletion 22q11.

References

  1. McElhinney D.B., Reddy V.M., Rajasinghe H.A., Mora B.N., Silverman N.H., Hanley F.L. Trends in the management of truncal valve insufficiency. Ann Thorac Surg 1998;65:517-524.[Abstract/Free Full Text]
  2. Momma K., Ando M., Matsuoka R. Truncus arteriosus communis associated with chromosome 22q11 deletion. J Am Coll Cardiol 1997;30:1067-1071.[Abstract]
  3. Ballerini L., Cifarelli A., Di Carlo D. Percutaneous balloon dilatation of stenotic truncal valve in a newborn. Int J Cardiol 1989;23:270-272.[Medline]
  4. Johnson M.C., Strauss A.W., Dowton S.B., et al. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol 1996;76:66-69.
  5. Marino B., Digilio M.C., Grazioli S., et al. Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot. Am J Cardiol 1996;77:505-508.[Medline]




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