Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 1, Pages 106-112Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36208
Keywords
ACTA2; aortic dissection; stroke; myocardial infarct; pregnancy
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Funding
- NIH [RO1HL62594, P50HL083794-01, P01HL110869-01, UL1RR024148]
- Vivian L. Smith Foundation
- TexGen Foundation
- Richard T. Pisani Funds
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR024148] Funding Source: NIH RePORTER
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [P50HL083794, R01HL109942, R01HL062594, P01HL110869] Funding Source: NIH RePORTER
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Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with ACTA2 mutations. Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third trimester or the postpartum period (6% of pregnancies). One woman also had a myocardial infarct that occurred during pregnancy that was independent of her aortic dissection. Compared to the population-based frequency of peripartum aortic dissections of 0.6%, the rate of peripartum aortic dissections in women with ACTA2 mutations is much higher (8 out of 39; 20%). Six of these dissections initiated in the ascending aorta (Stanford type A), three were fatal. Three women had ascending aortic dissections at diameters less that 5.0cm (range 3.8-4.7cm). Aortic pathology showed mild to moderate medial degeneration of the aorta in three women. Of note, five of the women had hypertension either during or before the pregnancy. In summary, the majority of women with ACTA2 mutations did not have aortic or other vascular complications with pregnancy. However, these findings show that pregnancy is associated with significant risk for aortic dissection in women with ACTA2 mutations. Women with ACTA2 mutations who are planning to get pregnant should be counseled about this risk of aortic dissection, and proper clinical management should be initiated to reduce this risk. (c) 2013 Wiley Periodicals, Inc.
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