Pregnancy in CADASIL

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CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) [MIM 125310] is a rare inherited disease caused by missense point mutations of the NOTCH3 gene (chromosome 19p13.1).1 Pathologically, CADASIL is characterized by a non‐arteriolosclerotic, non‐amyloid diffuse microangiopathy leading to brain parenchyma damage.2 Migraine, early‐onset‐TIA/stroke, cognitive disturbances, mood disorders, and, more rarely, seizures are the typical clinical features. Brain hemorrhages have also been rarely reported.3 The course of the disease is often progressive, leading to disability and dementia in three‐fourths of patients.4 On neuroimaging, the disease is characterized by diffuse white matter hyperintensities, frequently extending to the anterior temporal pole and the external capsule, multiple lacunes, and microbleeds.4 Disease phenotype is however variable, ranging from minimal symptoms even at late age to full‐blown dementia and disability in middle‐aged patients.4
Probably because of the relatively high frequency of stroke in CADASIL patients, in Italy general physicians and gynecologists consider pregnant women carrying a NOTCH3 mutation at high risk of systemic vascular events or placental damage; therefore, they frequently prescribe those patients with antithrombotic drugs during pregnancy. Because of the low prevalence of the disease and the few data about pregnancy outcome in CADASIL patients,7 it is difficult to give advice on the use of these drugs to CADASIL women who are planning a pregnancy. Furthermore, there are no reports of pregnancy outcome in women with CADASIL in comparison with healthy women.
The aim of this paper was to report our experience concerning pregnancies in a CADASIL patient population. Data reported in this review are based on two series of CADASIL patients. The first one is composed of patients in whom the diagnosis of CADASIL was unknown at the time of pregnancy and who came to our attention and were diagnosed some time after. The second group is that of patients in whom the diagnosis was already known at the time of the pregnancy beginning and could therefore be followed during gestation.
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