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• W2021153014 abstract "A 12-year-old obese boy with a history of mild asthma managed with as-needed albuterol and episodic mild epistaxis presented with acute chest pain in the absence of known trauma. The patient had tachypnea and tachycardia with decreased breath sounds on the right, but had normoxia. Chest radiography revealed a large right pleural effusion (Figure 1), and almost 2 L of bloody fluid was removed via thoracentesis and thoracostomy tube. Our initial differential for acute hemothorax included trauma, infection, bleeding diathesis, malignancy, and arterial venous malformation (AVM). Laboratory study results including platelet count and international normalized ratios were normal, and the examination result of the pleural fluid was negative for infection or the presence of malignant cells. Echocardiography with contrast bubble study revealed a small amount of contrast in the left atrium after three cardiac cycles, suggesting shunting. Computed tomography angiography revealed multiple pulmonary AVMs on the right, and three AVMs were identified and successfully occluded via catheter embolization (Figure 2). Genetic sequencing revealed a pathologic mutation of ENG with p.Lue370 frameshift, predicted to cause hereditary hemorrhagic telangiectasia (HHT).Figure 2A, Right pulmonary angiogram shows 3 arteriovenous fistulae (arrows). B, Selective angiogram in right lower lobe shows arteriovenous fistula with irregular contour of the subpleural varix (arrows), possibly the bleeding site. C, Right pulmonary angiogram after embolization shows occlusion of the shunts.View Large Image Figure ViewerDownload Hi-res image Download (PPT)Pulmonary AVMs typically present with dyspnea on exertion or refractory hypoxemia but infrequently may cause hemothorax on intraplueral rupture.1Cottin V. Dupuis-Girod S. Lesca G. Cordier Jean-Fancois Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler disease).Respiration. 2007; 74: 361-378Crossref PubMed Scopus (140) Google Scholar The diagnosis of HHT, or Osler-Weber-Rendu syndrome, was made in this case on the basis of visceral AVMs, a single mucosal telangiectasia on the patient’s anterior tongue, a history of epistaxis, and genetic analysis, although no family history was present. HHT is an autosomal dominant disorder with variable penetrance caused by mutations in multiple genes involved in the TGR-B/BMP signaling cascade.2Pyeritz RE, McDonald J. Hereditary hemorrhagic telangiectasia. GeneReviews [Internet]. Seattle c1993–c2010: [Updated 2009 May 19, cited 2010 Sept 15].Google Scholar The most common clinical manifestation is epistaxis, with an average onset age of 12 years.3Faughnan M.E. Thabet A. Mei-Zahav M. Colombo M. Maclusky I. Hyland R.H. et al.Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy.J Pediatr. 2004; 145: 826-831Abstract Full Text Full Text PDF PubMed Scopus (75) Google Scholar Embolization is the preferred method of treatment for large pulmonary AVMs, and patients should be monitored closely for recurrence.2Pyeritz RE, McDonald J. Hereditary hemorrhagic telangiectasia. GeneReviews [Internet]. Seattle c1993–c2010: [Updated 2009 May 19, cited 2010 Sept 15].Google Scholar A 12-year-old obese boy with a history of mild asthma managed with as-needed albuterol and episodic mild epistaxis presented with acute chest pain in the absence of known trauma. The patient had tachypnea and tachycardia with decreased breath sounds on the right, but had normoxia. Chest radiography revealed a large right pleural effusion (Figure 1), and almost 2 L of bloody fluid was removed via thoracentesis and thoracostomy tube. Our initial differential for acute hemothorax included trauma, infection, bleeding diathesis, malignancy, and arterial venous malformation (AVM). Laboratory study results including platelet count and international normalized ratios were normal, and the examination result of the pleural fluid was negative for infection or the presence of malignant cells. Echocardiography with contrast bubble study revealed a small amount of contrast in the left atrium after three cardiac cycles, suggesting shunting. Computed tomography angiography revealed multiple pulmonary AVMs on the right, and three AVMs were identified and successfully occluded via catheter embolization (Figure 2). Genetic sequencing revealed a pathologic mutation of ENG with p.Lue370 frameshift, predicted to cause hereditary hemorrhagic telangiectasia (HHT). Pulmonary AVMs typically present with dyspnea on exertion or refractory hypoxemia but infrequently may cause hemothorax on intraplueral rupture.1Cottin V. Dupuis-Girod S. Lesca G. Cordier Jean-Fancois Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler disease).Respiration. 2007; 74: 361-378Crossref PubMed Scopus (140) Google Scholar The diagnosis of HHT, or Osler-Weber-Rendu syndrome, was made in this case on the basis of visceral AVMs, a single mucosal telangiectasia on the patient’s anterior tongue, a history of epistaxis, and genetic analysis, although no family history was present. HHT is an autosomal dominant disorder with variable penetrance caused by mutations in multiple genes involved in the TGR-B/BMP signaling cascade.2Pyeritz RE, McDonald J. Hereditary hemorrhagic telangiectasia. GeneReviews [Internet]. Seattle c1993–c2010: [Updated 2009 May 19, cited 2010 Sept 15].Google Scholar The most common clinical manifestation is epistaxis, with an average onset age of 12 years.3Faughnan M.E. Thabet A. Mei-Zahav M. Colombo M. Maclusky I. Hyland R.H. et al.Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy.J Pediatr. 2004; 145: 826-831Abstract Full Text Full Text PDF PubMed Scopus (75) Google Scholar Embolization is the preferred method of treatment for large pulmonary AVMs, and patients should be monitored closely for recurrence.2Pyeritz RE, McDonald J. Hereditary hemorrhagic telangiectasia. GeneReviews [Internet]. Seattle c1993–c2010: [Updated 2009 May 19, cited 2010 Sept 15].Google Scholar" @default.
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• W2021153014 title "An Unusual Cause of Chest Pain in a Child" @default.
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