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Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.

Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
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Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R,


Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R, (click to view)

Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R,

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Pediatric pulmonology 2017 02 06() doi 10.1002/ppul.23649
Abstract
BACKGROUND
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor-like kinase 1 (ALK-1/HHT2). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arteriovenous malformations (AVM).

AIM
to report the experience of two university hospitals (Trousseau, Paris, and CHIC, Creteil) with screening children for HHT and pulmonary AVM (PAVM) using high resolution computed tomography (HRCT).

METHODS
parents with confirmed HHT were offered to have their children screened for the mutation identified in their family, and informed consent was obtained. Children carrying the same mutation as their parents underwent HRCT of the chest without contrast.

RESULTS
between 2008 and 2015, 99 children were screened for HHT mutations. Mutations were identified in 59 patients, that is 24 HHT1 and 35 HHT2. Radiologic and clinical screening was possible in 52 patients (21 HHT-1 and 31 HHT-2). Among those, PAVM was identified in 13 patients (25%; n = 8 HHT1; n = 5 HHT2), and four of them required embolization therapy.

CONCLUSION
This study highlights the usefulness of genetic screening in children with known HHT family. It also suggests that a non-invasive protocol such as HRTC is an efficient approach to detect non-symptomatic lesions that are present early on in children carrying the ENG (HHT1), but also the ACVRL1 mutations (HHT2). Pediatr Pulmonol. 2017; © 2017 Wiley Periodicals, Inc.

1 Comment

  1. This is a very interesting study. Would you be interested in submitting an abstract for the 12th HHT International Scientific Conference to be held in Dubrovnik, Croatia on June 8-11, 2017? There is little publication on HHT and Children but it is becoming an increasingly more sought after topic. You can learn more about the conference at http://science.hhtconference.org. I’m happy to answer any questions you may have.

    Reply

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