PREGNANCY AND DELIVERY IN A PATIENT WITH MARFAN SYNDROME AND RECURRENT BIRTH OF A CHILD WITH THE EARLY-ONSET (NEONATAL) FORM OF THE DISEASE: A CASE REPORT
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Abstract
Marfan syndrome (MS) is a monogenic connective tissue disorder with an autosomal dominant mode of inheritance, caused by pathogenic variants of the FBN1 gene (locus 15q21.1), which encodes fibrillin‑1 (the main structural protein of extracellular microfibrils). The prevalence of MS is estimated at 2-3 cases per 10000 population. The disease is characterized by high penetrance and pronounced inter‑ and intrafamilial variability in expressivity. The main manifestations are aneurysm and dissection of the aortic root, lens ectopia, and skeletal anomalies.
Pregnancy in SM is associated with two fundamentally different problems. The first is maternal cardiovascular risk, primarily aortic dissection. The second problem is a 50 % risk of the fetus inheriting the disease.
Publications describing the repeated birth of a child with an early form of SM in the same woman are rare. The article describes a clinical case of pregnancy and childbirth in a patient with Marfan syndrome and the repeated birth of a child with an early (neonatal) form of the disease.
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