nravelling aetiology and risk factors in patients with a Bicuspid Aortic Valves * study of clinical outcome and genetics

Completed

• Conditions: bicuspid aortic valve; turner syndrome; 10007510

• Registration Number: NL-OMON44982
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 22 July 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 220

Inclusion Criteria

The study population consist of 100 adults with *high-risk* BAV and 100 patients with Turner syndrome, who regularly seen at the outpatient clinic of the three academic hospitals (Erasmus MC, RadboudUMC and LUMC). ;Inclusion criteria
In order to be eligible to participate in this study, a subject must meet all of the following criteria:
* Men and women aged > 18 years;
* Capable of understanding and signing informed consent. ;Inclusion criteria for *high-risk* BAV patients are:
No prior aortic valve surgery, but with 1 or more of the following risk factors:
* Aortic stenosis: gradient >3 m/sec
* Aortic regurgitation at least moderate
* Aortic aneurysm: >40 mm ascending aorta and/or aortic index > 2.1;Inclusion criteria for patients with Turner syndrome:
* Know with chromosoom XO ;In addition, 20 healthy participants will be included who will receive echocardiography once at baseline.

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded from participation in this study:
Subjects who have any of the conditions below at the time of the enrollment or
scan session are excluded from this study. Further, should it be determined by study staff that an enrolled subject meets any of the conditions below during the course of the study, the subject will be removed from the study.
* Contra-indication to radiation exposure (CT/MRI): pregnancy
* Contra-indication to iodine contrast media: renal failure, iodine
Allergy
* Any contraindication to an MRI scan or gadolinium contrast media (renal failure,
allergy)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The strong endpoints in real life setting are death, surgery, heart failure<br /><br>and/or arrhythmia but as we expect to see only low incidence of these hard<br /><br>endpoints within a 4-year timeframe, we will use surrogate endpoints including<br /><br>progression of aortic valve stenosis/regurgitation (echocardiography and MRI),<br /><br>progression of left ventricular hypertrophy (MRI), progression of aortic<br /><br>dilatation (MRI and ECG synchronized CT), aortic distensibility (CTA and MRI),<br /><br>decrease in exercise tolerance (VO2max exercise test), and subclinical<br /><br>worsening of left ventricular function (Speckle echocardiography). This study<br /><br>will form the basis of a longer prospective study of 10 years in which the hard<br /><br>endpoints can be assessed.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not applicable</p><br>