Chest
Original ResearchPulmonary CirculationReal Prevalence of Pulmonary Right-to-Left Shunt According to Genotype in Patients With Hereditary Hemorrhagic Telangiectasia: A Transthoracic Contrast Echocardiography Study
Section snippets
Study Population
In the period from May 2004 through December 2008, 466 consecutive persons were screened for possible HHT in the St. Antonius Hospital. In order to guarantee a uniform group of screened persons we only included first-degree relatives of patients with proven HHT (index cases). We excluded 20 persons because they were referred for suggestive findings for HHT and not as family members of known patients with HHT, and 78 persons who were family members but not in the first degree. In 20 persons no
Results
Three hundred forty-three persons (mean age 42 ± 15 y; 58% women) were screened for possible HHT as first-degree family members of index cases (clinically or genetically confirmed HHT) and had an appropriate TTCE. All persons underwent TTCE studies, including shunt grade measurement. In 335 of 343 (98%) persons a chest HRCT scan was performed. In 307 (90%) persons the HHT subtype of the index patient was known. One hundred forty-two screened persons were first-degree family members of index
Discussion
We report for the first time the prevalence of pulmonary shunting on contrast echocardiography in a large homogeneous group of first-degree HHT relatives with an identified HHT-causing mutation. We found a pulmonary RLS in 85% of HHT1- and 35% of HHT2-related mutation carriers, respectively. Furthermore, pulmonary shunts are larger in HHT1 compared with HHT2 relatives. TTCE appears to be also positive in 6% of persons without an HHT-causing mutation. Only a small fraction of PAVMs in the HHT2
Acknowledgments
Author contributions: Dr van Gent: contributed as the primary author of the manuscript and performed contrast echocardiograms.
Dr Post: contributed to revising the manuscript and performing contrast echocardiograms.
Dr Snijder: contributed to the clinical care of patients with HHT and revising the manuscript.
Dr Westermann: contributed to providing clinical and genetic data on all patients with HHT and revising the manuscript.
Dr Plokker: contributed to revising the manuscript.
Dr Mager: contributed
References (33)
- et al.
Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients
J Vasc Interv Radiol
(2004) - et al.
Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy
J Vasc Interv Radiol
(1996) - et al.
Contrast echocardiography for detection of pulmonary arteriovenous malformations
Am Heart J
(2001) - et al.
Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations
Chest
(2003) - et al.
Comparison of contrast echocardiography versus cardiac catheterization for detection of pulmonary arteriovenous malformations
Am J Cardiol
(2002) - et al.
Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations
Am J Cardiol
(1991) - et al.
Grading of pulmonary right-to-left shunt with transthoracic contrast echocardiography: does it predict the indication for embolotherapy?
Chest
(2009) - et al.
Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT
Chest
(2007) - et al.
The safety of contrast echocardiography: report of the Committee on Contrast Echocardiography for the American Society of Echocardiography
J Am Coll Cardiol
(1984) The role of echocardiography in screening for pulmonary arteriovenous malformations
Chest
(2003)
Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia
Chest
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
Genet Med
A pulmonary right-to-left shunt in patients with hereditary hemorrhagic telangiectasia is associated with an increased prevalence of migraine
Chest
Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers
J Thromb Haemost
A critical review of patent foramen ovale detection using saline contrast echocardiography: when bubbles lie
J Am Soc Echocardiogr
Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia
Thorax
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