Korean Circ J.  2010 Dec;40(12):684-686. 10.4070/kcj.2010.40.12.684.

A Case of a Pulmonary Arteriovenous Malformation With Ebstein's Anomaly

• Park K
• Kim C
• Lim DS
• Ro YM
• Park J
• Chun S
• Lim S
• Cho H
• Lee S
• Kim SE

• KMID: 2225170
• DOI: http://doi.org/10.4070/kcj.2010.40.12.684

Abstract

A pulmonary arteriovenous malformation (PAVM) is a rare pulmonary vascular anomaly presenting as dyspnea or recurrent epistaxis. Ebstein's anomaly (EA), a congenital cardiac malformation, is also a rare condition. There have been no reports concerning the co-existence of PAVM with hereditary hemorrhagic telangiectasia (HHT) and EA. A 40-year-old woman was admitted with a 2-month history of increasing dyspnea and several years of recurrent epistaxis. On transthoracic echocardiography, she was diagnosed with EA and agreed to undergo surgical treatment. A chest CT angiography showed a 12-mm serpiginous vascular structure suspicious for a PAVM and a liver CT suggested HTT. Although it is unclear whether or not a concurrent PAVM and EA have an embryologic or genetic relationship, we report a case of a PAVM with EA. Further genetic and embryonic studies are needed to identify a possible relationship of the two medical conditions.

Keyword

Arteriovenous malformation ration; Lung; Telangiectasia, hereditary hemorrhagic; Ebstein anomaly

MeSH Terms

Adult
Angiography
Arteriovenous Malformations
Dyspnea
Ebstein Anomaly
Echocardiography
Epistaxis
Female
Humans
Liver
Lung
Telangiectasia, Hereditary Hemorrhagic
Thorax

Figure

• 

  Fig. 1 A: initial chest X-ray showing a round nodular opacity on the left lung. B and D: on the chest CT angiography, a pulmonary arteriovenous malformation was detected in the left lower lobe (arrows). C: the arterial phase of the liver CT revealed a severe tortuous dilatation of hepatic arteries and early visualization of hepatic veins with multifocal arteriovenous malformations.

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  Fig. 2 Transthoracic echocardiography: Ebstein's anomaly. The displacement index was mesured (15.6 mm/m2). Tethering of the septal and posterior leaflets of the tricuspid valve was observed with central coaptation failure and severe regurgitation. A portion of the right ventricle was atrialized because of apical displacement of the tricuspid valve. The right atrium and ventricle were markedly enlarged.

Reference

1. Pick A, Deschamps C, Stanson AW. Pulmonary arteriovenous fistula: presentation, diagnosis, and treatment. World J Surg. 1999. 23:1118–1122.

2. Khurshid I, Downie GH. Pulmonary arteriovenous malformation. Postgrad Med J. 2002. 78:191–197.

3. Jang HJ, Kim MS, Kim SY, et al. A case of embolization seen in pulmonary arteriovenous malformation in a patient with Osler-Rendu-Weber syndrome. Korean Circ J. 2006. 36:820–822.

4. Gossage JR, Kanj G. Pulmonary arteriovenous malformations: a state of the art review. Am J Respir Crit Care Med. 1998. 158:643–661.

5. Swanson KL, Prakash UB, Stanson AW. Pulmonary arteriovenous fistulas: Mayo clinic experience, 1982-1997. Mayo Clin Proc. 1999. 74:671–680.

6. Memeo M, Scardapane A, De Blasi R, Sabba C, Carella A, Angelelli G. Diagnostic imaging in the study of visceral involvement of hereditary haemorrhagic telangiectasia. Radiol Med. 2008. 113:547–566.

7. Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007. 115:277–285.

8. Attenhofer Jost CH, Connolly HM, Edwards WD, Hayes D, Warnes CA, Danielson GK. Ebstein's anomaly: review of a multifaceted congenital cardiac condition. Swiss Med Wkly. 2005. 135:269–281.

9. Andelfinger G, Wright KN, Lee HS, Siemens LM, Benson DW. Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. J Med Genet. 2003. 40:320–324.

10. Marchuk DA. The molecular genetics of hereditary hemorrhagic telangiectasia. Chest. 1997. 111:6 Suppl. 79S–82S.

11. Kim MA, Cho SW, Lee WS, et al. Ebastein's anomaly in adults. Korean Circ J. 1988. 18:673–680.

12. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000. 91:66–67.