Cardiovascular problems in Cutis Laxa

Dr Ilse MEERSCHAUT

According to a study of 469 patients with CL, cardiovascular disorders are present in 50 to 80% of these patients , mainly tortuosity, arterial aneurisms or arterial stenosis. Several types of Cutis Laxa are specifically concerned : mutations FBLN4, SLC2A10, LOX et EMILIN1 with aortic and main aortic branches tortuosity and mutation ELN with multiple heart valve disorders.

All these types need a specific cardiovascular follow-up. When suspecting one or the other type with those mutations in the new classification, it is mandatory to organise this follow-up without any delay.

Blood pressure must be controlled, and it is also necessary to evaluate and follow up closely any heart or vascular trouble (echocardiography, MRI of the heart, MR/CT angiography head to pelvis).

The frequency and age for these tests must be carried out depending on the type of CL. Difference in necessary follow up depending on genetic mutations demand gene-specific guidelines to be established for each known mutation.