Literature DB >> 33884218

Hypoxemia without Respiratory Distress: Hereditary Hemorrhagic Telangiectasia in a Child.

Michael D McCann1, Claire Newlon1, Conrad Krawiec2.   

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized genetic disorder of vascular development in pediatric patients. Its presentation can range from mild cutaneous findings to life-threatening hemorrhage from arteriovenous malformations. Clinical diagnosis can be challenging in the pediatric population as disease manifestations evolve over time and may be difficult to identify in younger patients. This case highlights how nonspecific symptoms and signs in the preanesthesia period can be misleading, potentially placing a patient with unrecognized HHT at risk for significant morbidity and mortality. Thieme. All rights reserved.

Entities:  

Keywords:  hereditary hemorrhagic telangiectasia; hypoxemia; pediatric

Year:  2020        PMID: 33884218      PMCID: PMC8052105          DOI: 10.1055/s-0040-1710499

Source DB:  PubMed          Journal:  J Pediatr Intensive Care        ISSN: 2146-4626


  27 in total

1.  Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

Authors:  H Plauchu; J P de Chadarévian; A Bideau; J M Robert
Journal:  Am J Med Genet       Date:  1989-03

2.  Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency.

Authors:  Adam M Berg; Smbat Amirbekian; Hamid Mojibian; Terence K Trow; Steven J Smith; Robert I White
Journal:  Chest       Date:  2010-03       Impact factor: 9.410

3.  Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

Authors:  P Giordano; A Nigro; G M Lenato; G Guanti; P Suppressa; P Lastella; D DE Mattia; C Sabbà
Journal:  J Thromb Haemost       Date:  2006-06       Impact factor: 5.824

4.  Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Authors:  C L Shovlin; A E Guttmacher; E Buscarini; M E Faughnan; R H Hyland; C J Westermann; A D Kjeldsen; H Plauchu
Journal:  Am J Med Genet       Date:  2000-03-06

5.  Osler-Weber-Rendu syndrome: an anaesthetic challenge?

Authors:  Diana Chieira; Luis Conceição; Edgar Semedo; Valentina Almeida
Journal:  BMJ Case Rep       Date:  2016-04-28

6.  Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center's experience.

Authors:  Toby N Weingarten; Jeffrey W Hanson; Kissinger O Anusionwu; Mandi L Moncrief; Todd J Opdahl; Danelle D Schneider; Juraj Sprung
Journal:  J Anesth       Date:  2013-04-05       Impact factor: 2.078

Review 7.  Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

Authors:  Vincent Cottin; Sophie Dupuis-Girod; Gaetan Lesca; Jean-François Cordier
Journal:  Respiration       Date:  2007       Impact factor: 3.580

8.  Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia.

Authors:  B A Ference; T M Shannon; R I White; M Zawin; C M Burdge
Journal:  Chest       Date:  1994-11       Impact factor: 9.410

9.  Hereditary hemorrhagic telangiectasia: a review of 76 cases.

Authors:  Rahul K Shah; Jagdish K Dhingra; Stanley M Shapshay
Journal:  Laryngoscope       Date:  2002-05       Impact factor: 3.325

10.  The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study.

Authors:  J W Donaldson; T M McKeever; I P Hall; R B Hubbard; A W Fogarty
Journal:  Thorax       Date:  2013-11-04       Impact factor: 9.139

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