Pulmonary Arteriovenous Malformations

Screening Procedures and Pulmonary Angiography in Patients With Hereditary Hemorrhagic Telangiectasia


      Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM.


      To evaluate different screening methods applied for the identification of PAVMs.


      Odense University Hospital.


      HHT patients with positive findings on contrast echocardiography (CE) who participated in a screening investigation and underwent pulmonary angiography (PA).


      Different screening methods were evaluated against the results of PA. In a group of patients with positive findings on CE, we compared results of PA with the following: severity of dyspnea; results of pulse oximetry arterial oxygen saturation (Sao2) supine and upright; supine Pao2 in room air and while breathing 100% oxygen; size of arteriovenous shunt in supine position; chest radiograph; and intensity of contrast at CE.


      PA was performed in 25 HHT patients with positive findings on CE, 15 of whom had PAVM. Embolization therapy was recommended in 12 patients, and 3 patients had small PAVMs not accessible for therapy. In 10 patients, PAVM could not be demonstrated at PA. The sensitivity and specificity calculated for the screening procedures are as follows: 53% and 90%, respectively, for Sao2; 60% and 100%, respectively, for chest radiograph; 73% and 80%, respectively, for Pao2 in room air; 100% and 40%, respectively, for Pao2 breathing 100% oxygen; and 64% and 80%, respectively, for shunt measurement.


      Initial screening with CE followed by measurement of Pao2 while breathing 100% oxygen seemed to be the best screening procedure for identification of patients with PAVM. Screening with chest radiograph and pulse oximetry was shown to be insufficient.

      Key words


      CE (contrast echocardiography), HHT (hereditary hemorrhagic telangiectasia), NYHA (New York Heart Association), PA (pulmonary angiography), PAVM (pulmonaryarteriovenous malformation), Sao2 (arterialoxygen saturation)
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        • Hewes RC
        • Auster M
        • White Jr, RI
        Cerebral embolism: first manifestation of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia.
        Cardiovasc Intervent Radiol. 1985; 8: 151-155
        • Ference BA
        • Shannon TM
        • White Jr, RI
        • et al.
        Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia.
        Chest. 1994; 106: 1387-1390
        • Vase P
        • Holm M
        • Arendrup H
        Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia.
        Acta Med Scand. 1985; 218: 105-109
        • Shovlin CL
        • Winstock AR
        • Peters AM
        • et al.
        Medical complications of pregnancy in hereditary hemorrhagic telangiectasia.
        Q J Med. 1995; 88: 879-887
        • Kjeldsen AD
        Epidemiological and clinical aspects of hereditary hemorrhagic telangiectasia, Mb [thesis]. Osler. Odense University, Odense, Denmark1998
        • Haitjema T
        • Disch F
        • Overtoom TT
        • et al.
        Screening family members of patients with hereditary hemorrhagic telangiectasia.
        Am J Med. 1995; 99: 519-524
        • Kjeldsen AD
        • Vase P
        • Green A
        Hereditary hemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients.
        J Intern Med. 1999; 245: 31-39
        • Criteria Committee of the New York Heart Association
        Nomenclature and criteria for diagnosis of diseases of the heart and great vessels. 9th ed. Little, Brown & Co, Boston, MA1994
        • Mellemgaard K
        The alveolar-arterial oxygen difference: its size and components in normal man.
        Acta Physiol Scand. 1966; 67: 10-20
        • Guttmacher AE
        • Marchuk DA
        • White Jr, RI
        Hereditary hemorrhagic telangiectasia.
        N Engl J Med. 1995; 333: 918-924
        • Sisel RJ
        • Parker BM
        • Bahl OP
        Cerebral symptoms in pulmonary arteriovenous fistula: a result of paradoxical emboli (?).
        Circulation. 1970; 41: 123-128
        • White Jr, RI
        • Lynch-Nyhan A
        • Terry P
        • et al.
        Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy.
        Radiology. 1988; 169: 663-669
        • Hughes JM
        Intrapulmonary shunts: coils to transplantation.
        J R Coll Physicians Lond. 1994; 28: 247-253
        • Wirth JA
        • Pollak JS
        • White Jr, RI
        Pulmonary arteriovenous malformations.
        in: George RB Douglas G Campbell Jr, GD Current pulmonology and critical care medicine (vol 17). Mosby Year-Book, St. Louis, MO1996: 261-298
        • Gramiak R
        • Shah PM
        Echocardiography of the aortic root.
        Invest Radiol. 1968; 3: 356-366
        • Ernst A
        • Cikes I
        • Custovic F
        Polygelin colloid solution as an echocardiographic contrast agent.
        J Cardiovasc Ultrasonography. 1984; 3: 143-145
        • Meltzer RS
        • Tickner EG
        • Popp RL
        Why do the lungs clear ultrasonic contrast?.
        Ultrasound Med Biol. 1980; 6: 263-269
        • Meltzer RS
        • Reisner SA
        Contrast echocardiography in the Doppler color flow imaging era [editorial].
        J Am Coll Cardiol. 1989; 13: 687-688
        • Meltzer RS
        • Tickner EG
        • Sahines TP
        • et al.
        The source of ultrasound contrast effect.
        J Clin Ultrasound. 1980; 8: 121-127
        • Berwing K
        • Schlepper M
        Echocardiographic imaging of the left ventricle by peripheral intravenous injection of echo contrast agent.
        Am Heart J. 1988; 115: 399-408
        • Dutton JA
        • Jackson JE
        • Hughes JM
        • et al.
        Pulmonary arteriovenous malformations: results of treatment with coil embolization in 53 patients.
        AJR Am J Roentgenol. 1995; 165: 1119-1125
        • Chilvers ER
        • Whyte MK
        • Jackson JE
        • et al.
        Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations.
        Am Rev Respir Dis. 1990; 142: 420-425
        • Bernstein HS
        • Brook MM
        • Silverman NH
        • et al.
        Development of pulmonary arteriovenous fistulae in children after cavopulmonary shunt.
        Circulation. 1995; 92: 309-314
        • Andersen PE
        • Kjeldsen AD
        • Oxhøj H
        • et al.
        Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
        Acta Radiologica. 1998; 39: 723-726
        • Ueki J
        • Hughes JM
        • Peters AM
        • et al.
        Oxygen and99mTc-MAA shunt estimations in patients with pulmonary arteriovenous malformations: effects of changes in posture and lung volume.
        Thorax. 1994; 49: 327-331
        • Barzilai B
        • Waggoner AD
        • Spessert C
        • et al.
        Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations.
        Am J Cardiol. 1991; 68: 1507-1510
        • Hernandez A
        • Strauss AW
        • McKnight R
        • et al.
        Diagnosis of pulmonary arteriovenous fistula by contrast echocardiography.
        J Pediatr. 1978; 93: 258-261
        • Santoso T
        • Roelandt J
        • Mansyoer H
        • et al.
        Myocardial perfusion imaging in humans by contrast echocardiography using polygelin colloid solution.
        J Am Coll Cardiol. 1985; 6: 612-620
        • Zotz R
        • Duwe L
        • Erbel R
        • et al.
        [Right heart ventriculography using Gelifundol].
        Z Kardiol. 1989; 78: 95-100
        • Ernst A
        • Breyer B
        • Scoggins W
        • et al.
        Correlation of left heart high blood velocities measured with continuous-wave Doppler and contrast echocardiography.
        J Cardiovasc Ultrasonography. 1988; 7: 329-334
        • Van Hare GF
        • Silverman NH
        Contrast two-dimensional echocardiography in congenital heart disease: techniques, indications and clinical utility.
        J Am Coll Cardiol. 1989; 13: 673-686
        • de Belder MA
        • Tourikis L
        • Griffith M
        • et al.
        Transesophageal contrast echocardiography and color flow mapping: methods of choice for the detection of shunts at the atrial level?.
        Am Heart J. 1992; 124: 1545-1550
        • Hughes JM
        Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia.
        Semin Respir Crit Care Med. 1998; 19: 79-89
        • Whyte MK
        • Peters AM
        • Hughes JM
        • et al.
        Quantification of right to left shunt at rest and during exercise in patients with pulmonary arteriovenous malformations.
        Thorax. 1992; 47: 790-796
        • Flower CD
        Imaging pulmonary arteriovenous malformations [editorial].
        Br Med J Clin Res Ed. 1987; 294: 1633-1634
        • Prager RL
        • Laws KH
        • Bender Jr, HW
        Arteriovenous fistula of the lung.
        Ann Thorac Surg. 1983; 36: 231-239
        • Touliopoulos P
        • Costello P
        Helical (spiral) CT of the thorax.
        Radiol Clin North Am. 1995; 33: 843-861
        • White Jr, RI
        • Pollak JS
        Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT; a breakthrough without contrast media [editorial; comment].
        Radiology. 1994; 191: 613-614
        • Remy J
        • Remy Jardin M
        • Giraud F
        • et al.
        Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT.
        Radiology. 1994; 191: 657-664