Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report

被引:0
作者
L. J. Walsh
C. Collins
H. Ibrahim
D. M. Kerins
A. P. Brady
T. M. O Connor
机构
[1] Mercy University Hospital,Department of Respiratory Medicine
[2] Mercy University Hospital,Department of Cardiology
[3] Mercy University Hospital,Department of Radiology
来源
Journal of Medical Case Reports | / 16卷
关键词
Hereditary hemorrhagic telangiectasia; Pulmonary arterial hypertension; Case report;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 151 条
[1]  
Ryan DJ(2017)Follow-up interval for small untreated pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia Clin Radiol 72 236-241
[2]  
O'Connor TM(2009)Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality Ir J Med Sci 178 135-146
[3]  
Murphy MM(2011)International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia J Med Genet 48 73-87
[4]  
Brady AP(1995)Hereditary haemorrhagic telangiectasia N Engl J Med 333 918-924
[5]  
Brady AP(2000)Diagnostic criteria for hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) Am J Med Genet 91 66e7-729
[6]  
Murphy MM(1999)Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms Thorax 54 714-448
[7]  
O'Connor TM(2000)Embolotherapy in the bronchial and pulmonary circulations Radiol Clin N Am 38 425-582
[8]  
Faughnan ME(2005)A new locus for hereditary haemorrhagic telangiectasia HHT3 maps to chromosome 5 J Med Genet 42 577-859
[9]  
Palda VA(2004)A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) Lancet 363 852-797
[10]  
Garcia-Tsao G(2006)SMAD4 mutations found in unselected HHT patients J Med Genet 43 793-349