Clinical and genetic characteristics of chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension

European Journal of Clinical Investigation

Volumn 43, Issue 10, 2013, Pages 1016-1024

  Chen, Yan Jun ^a   Yang, Qing Hui ^a   Liu, Dong ^b   Liu, Qian Qian ^b   Eyries, Mélanie ^c   Wen, Liang ^a   Wu, Wen Hui ^b   Jiang, Xin ^b   Yuan, Ping ^b   Zhang, Rui ^b   Soubrier, Florent ^c   Jing, Zhi Cheng ^d  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d FUWAI HOSPITAL   (China)

Author keywords

Acvrl 1; Eng; Gene mutations; Hereditary haemorrhagic telangiectasia; Pulmonary hypertension

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ANOREXIGENIC AGENT; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; DILTIAZEM; ENDOGLIN; SILDENAFIL; VARDENAFIL; VASODILATOR AGENT;

ADD ON THERAPY; ADULT; AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATION; ARTICLE; ARTIFICIAL EMBOLISM; CAUSE OF DEATH; CHINESE; CHROMOSOME; CLINICAL ARTICLE; CLINICAL FEATURE; DRUG MEGADOSE; DRUG WITHDRAWAL; EPISTAXIS; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL HEMORRHAGE; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HEART INDEX; HEART OUTPUT; HEART RIGHT VENTRICLE FAILURE; HEMOPTYSIS; HUMAN; LUNG ANGIOGRAPHY; LUNG VASCULAR RESISTANCE; MALE; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; RISK FACTOR;

ACVRL-1; ENG; GENE MUTATIONS; HEREDITARY HAEMORRHAGIC TELANGIECTASIA; PULMONARY HYPERTENSION;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; ADULT; AGE OF ONSET; ANTIGENS, CD; ANTIHYPERTENSIVE AGENTS; ASIAN CONTINENTAL ANCESTRY GROUP; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHILD; FEMALE; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION, PULMONARY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; YOUNG ADULT;

EID: 84884702898     PISSN: 00142972     EISSN: 13652362     Source Type: Journal    
DOI: 10.1111/eci.12138     Document Type: Article

References (26)

1. Galiè N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, Barbera JA et al. Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009;30:2493-537.
2. Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW et al. Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation 2005;111:435-41.
3. Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA, Loyd JE et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000;26:81-4.
4. Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000;67:737-44.
5. Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009;54:S43-54.
6. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 2006;43:97-110.
7. Abdalla SA, Gallione CJ, Barst RJ, Horn EM, Knowles JA, Marchuk DA et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 2004;23:373-7.
8. Jing ZC, Jiang X, Han ZY, Xu XQ, Wang Y, Wu Y et al. Iloprost for pulmonary vasodilator testing in idiopathic pulmonary arterial hypertension. Eur Respir J 2009;33:1354-60.
9. Sitbon O, Humbert M, Jaïs X, Ioos V, Hamid AM, Provencher S et al. Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension. Circulation 2005;111:3105-11.
10. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010;24:203-19.
11. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. New York: Cold Spring Harbor Laboratory Press; 1989.
12. Sunyaev S, Ramensky V, Koch I, Lathe WR, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
13. Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jaïs X et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med 2010;181:851-61.
14. Garamszegi N, Dore JJ, Penheiter SG, Edens M, Yao D, Leof EB. Transforming growth factor beta receptor signaling and endocytosis are linked through a COOH terminal activation motif in the type I receptor. Mol Biol Cell 2001;12:2881-93.
15. Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M. Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 2003;11:279-87.
16. Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ et al. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum Genet 2000;107:40-4.
17. Pece-Barbara N, Cymerman U, Vera S, Marchuk DA, Letarte M. Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet 1999;8:2171-81.
18. Paquet ME, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C et al. Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. Hum Mol Genet 2001;10:1347-57.
19. Chaouat A, Coulet F, Favre C, Simonneau G, Weitzenblum E, Soubrier F et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax 2004;59:446-8.
20. Badesch DB, Raskob GE, Elliott CG, Krichman AM, Farber HW, Frost AE et al. Pulmonary arterial hypertension: baseline characteristics from the REVEAL Registry. Chest 2010;137:376-87.
21. Loyd JE, Butler MG, Foroud TM, Conneally PM, Phillips JR, Newman JH. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med 1995;152:93-7.
22. Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;33:256-7.
23. Trell E, Johansson BW, Linell F, Ripa J. Familial pulmonary hypertension and multiple abnormalities of large systemic arteries in Osler's disease. Am J Med 1972;53:50-63.
24. Souza R, Humbert M, Sztrymf B, Jaïs X, Yaïci A, Le Pavec J et al. Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases. Eur Respir J 2008;31:343-8.
25. Humbert M, Deng Z, Simonneau G, Barst RJ, Sitbon O, Wolf M et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002;20:518-23.
26. Bonderman D, Nowotny R, Skoro-Sajer N, Adlbrecht C, Lang IM. Bosentan therapy for pulmonary arterial hypertension associated with hereditary haemorrhagic telangiectasia. Eur J Clin Invest 2006;36(Suppl 3):71-2.