CADASIL Syndrome and Pregnancy

Overview:

Although no formal studies have been performed, no evidence from clinical practice suggests that fetuses affected with CADASIL are at an increased risk for intrauterine complications or complications during/after delivery.

Women with a NOTCH3 pathogenic variant have been described as at increased risk for neurologic events in pregnancy during and shortly after delivery (puerperium) [Roine et al 2005 ]. However, it should be noted that this study was performed retrospectively. In the authors’ experience, most women with CADASIL have an uncomplicated pregnancy and delivery, but transient neurologic events are sometimes reported (mostly consistent with migraine aura) [Lesnik Oberstein, unpublished observation based on clinical practice].

Source: Rutten J, Lesnik Oberstein SAJ. CADASIL. 2000 Mar 15 [Updated 2015 Feb 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1500/

Search Date: 06/05/2016

Search History:

1. EMBASE; exp CADASIL/; 1575 results.

2. EMBASE; CADASIL.ti,ab; 1354 results.

3. EMBASE; “Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”.ti,ab; 799 results.

4. EMBASE; 1 OR 2 OR 3; 1904 results.

5. EMBASE; pregn*.ti,ab; 497234 results.

6. EMBASE; exp PREGNANCY/; 615733 results.

7. EMBASE; 5 OR 6; 787913 results.

8. EMBASE; 4 AND 7; 20 results.

9. EMBASE; exp LABOR/; 36061 results.

10. EMBASE; (labour OR labor OR delivery).ti,ab; 473191 results.

11. EMBASE; 9 OR 10; 485387 results.

12. EMBASE; 4 AND 11; 3 results.

13. Medline; CADASIL.ti,ab; 954 results.

14. Medline; “Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”.ti,ab; 623 results.

15. Medline; exp CADASIL/; 599 results.

16. Medline; 13 OR 14 OR 15; 1090 results.

17. Medline; pregn*.ti,ab; 401215 results.

18. Medline; exp PREGNANCY/; 784267 results.

19. Medline; 17 OR 18; 865573 results.

20. Medline; (labour OR labor OR delivery).ti,ab; 366862 results.

21. Medline; “labor obstetric”.af; 27713 results.

23. Medline; 19 OR 20 OR 21; 1123201 results.

24. Medline; 16 AND 23; 8 results.

25. Medline; exp POSTPARTUM PERIOD/; 53712 results.

26. Medline; 16 AND 25; 4 results.

27. Medline; obstetr*.af; 464415 results.

28. Medline; 16 AND 27; 0 results.

29. EMBASE; obstetr*.af; 926337 results.

30. EMBASE; 4 AND 29; 8 results.

31. EMBASE; exp DELIVERY/ OR exp OBSTETRIC OPERATION/; 173810 results.

32. EMBASE; 4 AND 31; 3 results.

33. Medline; (caesarean OR cesarean).ti,ab; 47353 results.

34. Medline; exp DELIVERY, OBSTETRIC/; 67360 results.

35. Medline; 33 OR 34; 85188 results.

36. Medline; 16 AND 35; 0 results.

Sources Searched:

Medline

Embase

Google Scholar

DynaMed

Review Papers:

Title: CADASIL management or what to do when there is little one can do

Citation: Expert Review of Neurotherapeutics, February 2009, vol./is. 9/2(197-210), 1473-7175;1744-8360 (February 2009)

Author(s): Del Rio-Espinola A., Mendioroz M., Domingues-Montanari S., Pozo-Rosich P., Sole E., Fernandez-Morales J., Fernandez-Cadenas I., Montaner J.

Language: English

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare disease that leads to migraine, mood disorders, recurrent lacunar strokes and early vascular dementia. This autosomal-dominant condition is caused by mutations in the NOTCH3 gene and is characterized by degeneration of vascular smooth muscle cells. At present, no evidence-based treatment for CADASIL is available and only relief of symptoms can be offered to patients. This review focuses on an update of CADASIL management, based on the recent clinical and basic evidence, and discusses possible new treatment targets for CADASIL. © 2009 Expert Reviews Ltd.

Publication Type: Journal: Review

Source: EMBASE

Full Text:

Available from ProQuest in Expert Review of Neurotherapeutics

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Case Reports/Conference Abstracts:

Title: Neurologic symptoms are common during gestation and puerperium in CADASIL.

Citation: Neurology, Apr 2005, vol. 64, no. 8, p. 1441-1443, 1526-632X (April 26, 2005)

Author(s): Roine, S, Pöyhönen, M, Timonen, S, Tuisku, S, Marttila, R, Sulkava, R, Kalimo, H, Viitanen, M

Abstract: Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%). In 82% of the patients, the symptoms were the first manifestation of CADASIL. The symptoms were most common during puerperium and in patients older than age 30.

Source: Medline

Full Text:

Available from Ovid in Neurology

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Title: Anesthetic management and postoperative care of a patient with CADASIL (cerebral arteriopathy, Autosomal dominant, With subcortical infarcts and leukoencephalopathy) for cesarean section

Citation: International Journal of Women’s Health and Reproduction Sciences, September 2014, vol./is. 2/5(326-328), 2330-4456 (01 Sep 2014)

Author(s): Rasooli S., Moslemi F., Tagavi S.

Language: English

Abstract: CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy) is an infrequent inherited small artery disease that could have anesthetic implications. However these have rarely been reported. We present an anesthetic experience of a female patient previously diagnosed with CADASIL, who had suffered an ischemic vascular cerebral accident with a MRI compatible with leukoencephalopathy, and who was dependent for daily activities, mood alterations, apathy, and urine incontinence. We discuss anesthetic management of CADASIL patient, considering protection from further cerebral ischemia.

Publication Type: Journal: Article

Source: EMBASE

________________________________________

Title: Rare case of cadasil disease and associated thrombophilias in pregnancy

Citation: Journal of Maternal-Fetal and Neonatal Medicine, May 2010, vol./is. 23/(213-214), 1476-7058 (May 2010)

Author(s): Lima Rego J., Passarinho R., Ferreira S., Ramos L., Barata C., Galhano E.

Language: English

Abstract: Brief Introduction: Pregnancy is an acquired hypercoagulable state which can lead to gestational vascular complications especially in the presence of other prothrombotic risk factors. The CADASIL(Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) syndrome is an inherited neurological condition caused by non-atherosclerotic and non-amyloidosic micro-angiopathy. Pregnancy predispose to venous thromboembolism such as deep vein thrombosis,pulmonary embolism and gestational vascular complications, including recurrent pregnancy loss, intra-uterine growth restriction, preeclampsia and placental abruption. Clinical Cases or Summary Results: The authors report a case of a 29 years-old pregnant,nulliparous,with 2 spontaneous abortions, personal and family history of CADASIL and 4 identified hereditary thrombophilia (hyperhomocysteinemia, resistance to activated protein C, heterozygosity for MTHFR 1298C and factor V Leiden). Amniocentesis was performed for cytogenetic study, but the patient refused to carry out prenatal diagnosis of molecular CADASIL. She has been medicated with LMWH and aspirin, and had Neurologic, Hematologic, Genetic and Obstetric consultations. The pregnancy was uneventful and a forceps was performed at 38 weeks to deliver a 3310 g newborn, with an Apgar of 9/10 and a normal outcome. There were no complications in the puerperium. Conclusions: CADASIL disease and thrombophilia are a real challenge to the obstetrician. A multidisciplinary team is essential to a successful fetalmaternal outcome in high risk pregnancies.

Publication Type: Journal: Conference Abstract

Source: EMBASE

Full Text:

Available from Taylor & Francis in Journal of Maternal-Fetal and Neonatal Medicine, The

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DISCLAIMER: Results of database and or Internet searches are subject to the limitations of both the database(s) searched, and by your search request. It is the responsibility of the requestor to determine the accuracy, validity and interpretation of the results

Searched on 06/05/2016

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