Abstract
Background
Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disorder of vascular endothelium that can result in the formation of pulmonary arteriovenous malformations (pAVMs). We observed that small pulmonary nodules, possibly representing early vascular malformations, are more common in these children than in the general population.
Objective
To describe and characterize the small pulmonary nodules seen on chest CT examination in the lungs of children with HHT.
Materials and methods
We followed 19 children who had undergone chest CT as part of their initial diagnostic evaluation in the HHT clinic of a pediatric hospital. Chest CT scans were reviewed independently by two radiologists blinded to clinical data. Pulmonary nodules were analyzed according to lobar distribution, anatomic position in the lung (outer, mid, inner third), shape (round, linear, V- or Y-shaped, ill-defined), presence of overt AVMs, and nodule size (≤ or >5 mm). We also reviewed a control group of chest CT scans performed on 25 age-matched children.
Results
A total of 35 pulmonary nodules were identified on the CT scans in 15 of the 19 children. Multiple nodules were seen in eight children (42%), solitary nodules were seen in seven children (37%) and no nodules were seen in the remaining four children (21%). The nodules were found to be nonspecific with regard to multiple factors other than their anatomic position within the lung. The chest CT scans of 2 of the 25 age-matched controls revealed a total of only four nodules, a significantly lower total (P = 0.0001 vs. children with HHT).
Conclusion
Nonspecific nodules are commonly seen in children with HHT.
Similar content being viewed by others
References
Guttmacher AE, Marchuk DA, White RI Jr (1995) Hereditary hemorrhagic telangiectasia. N Eng J Med 333:918–924
Abdalla SA, Letarte M (2006) Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 43:97–110
Wallace GM, Shovlin CL (2000) A hereditary hemorrhagic telangiectasis family with pulmonary involvement is unlinked to the known HHT genes, Endoglin and ALK-1. Thorax 55:685–690
Cole S, Begbie M, Wallace G et al (2005) A new locus for hereditary haemorrhagic telangiectasis (HHT3) maps to chromosome 5. J Med Genet 42:577–582
Gallione CJ, Repetto GM, Legius E et al (2004) A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasis associated with mutations in MADH4 (SMAD4). Lancet 363:852–859
White RI Jr, Pollak JS, Wirth JA (1996) Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol 7:787–804
Kjeldsen AD, Oxhoj H, Andersen PE et al (1999) Pulmonary arteriovenous malformations. screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 116:432–439
Hernandez A, Strauss AW, McKnight R et al (1978) Diagnosis of pulmonary arteriovenous fistula by contrast echocardiography. J Pediatr 93:258–261
Pugash RA (2001) Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy. Can Assoc Radiol J 52:92–102
Remy J, Remy-Jardin M, Giraud F et al (1994) Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 191:657–664
Remy J, Remy-Jardin M, Artaud D et al (1998) Multiplanar and three-dimensional reconstruction techniques in CT: impact on chest diseases. Eur Radiol 8:335–351
Remy J, Remy-Jardin M, Wattinne L et al (1992) Pulmonary arteriovenous malformations: evaluations with CT of the chest before and after treatment. Radiology 182:809–816
White RI Jr (1992) Pulmonary arteriovenous malformations: how do we diagnose them and why is it important to do so? Radiology 182:633–635
Shovlin CL, Guttmacher AE, Buscarini E et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome). Am J Med Genet 32:291–297
Dutton JA, Jackson JE, Hughes JM et al (1995) Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients. AJR 165:1119–1125
Chilvers ER, Whyte MK, Jackson JE et al (1990) Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations. Am Rev Respir Dis 142:420–425
Cottin V, Plauchu H, Bayle JY et al (2004) Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 169:994–1000
Nanthakumar K, Graham AT, Robinson TI et al (2001) Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J 141:243–246
Shovlin CL, Letarte M (1999) Hereditary haemorrhagic telangiectasis and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 54:714–729
Remy-Jardin M, Dumont P, Brillet RY et al (2006) Pulmonary arteriovenous malformations treated with embolotherapy: helical CT evaluation of long term effectiveness after 2- to 21-year follow-up. Radiology 239:576–585
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Manson, D., Traubici, J., Mei-Zahav, M. et al. Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia. Pediatr Radiol 37, 264–268 (2007). https://doi.org/10.1007/s00247-006-0391-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00247-006-0391-z