Central conducting lymphatic anomalies in patients with Noonan Syndrome Spectrum Disorder
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: - Noonan Syndrome confirmed by genetic test with a class 4 or 5 pathogenic variant according to ClinVar - 18 years and older (no restriction for sex) - Willing and able to have MR lymphangiography scanning in the Radboudumc - Oral and written informed consent - None of the exclusion criteria
Exclusion criteria
Exclusion criteria: - unsuitable for MRI (e.g. metallic objects in the body, severe claustrophobia) - A history of symptoms related to lymphatic disease - pregnancy - renal insufficiency - liver cirrhosis - History of surgery related to cardiovascular disease with hemodynamic consequence - Other genetic diseases
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Anatomical categorizing and measurements of both the thoracic duct and the cisterna chyli (conducted in the coronal plane on whichever MR sequence offers the best visualization of these structures). Measurements consist of the maximal diameter of the thoracic duct and the diameter at the level of the diaphragm, and the width and length of the cisterna chyli. Lymph flow velocity will be determined on the dynamic MR lymphangiography by measuring the distance of contrast movement covered over time in cm/min. | — |
Secondary
| Measure | Time frame |
|---|---|
| Patient characteristics such as: age, gender, body height and weight, clinical history and genetic background. | — |
Countries
Netherlands
Outcome results
None listed