Hereditary haemorrhagic telangiectasia (HHT) Trans thoracic contract echocardiography (TTCE) Pulmonary arteriovenous malformations (PAVMs) Magnetic resonance imaging (MRI) Computed tomography (CT)
Conditions
Interventions
The study is a retrospective and prospective cohort study. Depending on the different subquestions the next interventions will be performed:
- Patients included in the study will undergo an MRI-scan
Sponsors
St. Antonius Hospital
Eligibility
Inclusion criteria
Inclusion criteria: All consecutive persons screened for HHT and/or PAVMs from 2004 until present at the St. Antonius Hospital will be included in the dataset.
Exclusion criteria
Exclusion criteria: Patients without HHT and without PAVMs and no family history of HHT
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| In a retrospective cohort we will study the accuracy of the current clinical diagnostic criteria, compared to genetic testing in correlation with age. We will study the additional value of different pulmonary shunt grading on TTCE, not only in the screenings algorithm, but also in follow-up of untreated PAVMs. The potential spontaneous increase or decrease of pulmonary shunting on TTCE after five years will be evaluated. In a prospective analysis we will compare the diagnostic accuracy of MRI to CT in both the detection and follow-up of (treated) PAVMS. We will determine potential differences in long-term results of PAVM embolotherapy with either coils or plugs and determine potential patterns in PAVM feeding arteries involved in persistent perfusion after embolotherapy. A comparison of HHT versus sporadic PAVMs and embolisation results will be made. | — |
Secondary
| Measure | Time frame |
|---|---|
| Survival and cause of mortality will also be analysed and correlated to demographic and clinical characteristics to find prognostic factors of survival. | — |
Contacts
Public ContactJ.J. Mager,
Dr. J.J. Mager, Pulmonology department, Postbus 2500, 3430 EM NIEUWEGEIN,
Outcome results
None listed