Publication in Nature Cardiovascular Research

Treatment of vascular malformation in utero


Considered a rare disease, lymphatic malformations are lesions consisting of abnormal lymphatic vessels. Patients with these malformations suffer from deformities, severe pain, functional impotence, muscle weakness and bleeding. Their quality of life is considerably impaired.

In 2016, the team of Laurence Boon, who coordinates the Vascular Malformations Centre at Cliniques Universitaires Saint-Luc, treated a mother whose foetus had a large lymphatic malformation in the cervical region. During the pregnancy, the lesion caused the foetus to suffer from respiratory failure, and was in danger of leading to termination of the pregnancy.

For the first time in the world, the vascular malformation has been treated in utero using a drug (Sirolimus) administered directly to the mother during pregnancy. 

The multidisciplinary team drew on its own experience and on the work of Miikka Vikkula, who heads the human molecular genetics laboratory at the Institut de Duve at UCLouvain and the WEL Research Institute. Several studies in this laboratory have highlighted the properties of Sirolimus in the treatment of low-flow vascular malformations such as lymphatic malformations. 

As it had few side effects, the drug was administered to the mother to reach the foetus through the placental barrier. Between the 29th and 34th weeks of pregnancy, the size of the lesion diminished considerably and the delivery proceeded normally. The baby no longer suffered from respiratory failure. In addition to sclerotherapy (injection of a drug into the abnormal vessels to dry them out) at 11 months, followed by an operation at 15 months, the child's treatment continued for several years. Now aged 6, the child is doing well and growing normally. 

This medical achievement is the result of a multidisciplinary collaboration between a number of clinicians and researchers. The results of this exceptional operation are published in the journal Nature Cardiovascular Research.

Reference : Seront et al (2023) Nat Cardiovasc Res

Source : Press release from UCLouvain and De Duve Institute

Photo by Omar Lopez on Unsplash

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