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Novel and Innovative Hybrid Technique for Type A Aortic Dissection

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Acute aortic dissection (Stanford type B) during pregnancy.

S Katsuragi¹, R Neki, J Yoshimatsu

¹Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan. skatsura12@yahoo.co.jp

Journal of Perinatology : Official Journal of the California Perinatal Association

|May 31, 2013

Summary

A pregnant woman experienced acute aortic dissection (Stanford type B) despite lacking Marfan syndrome symptoms. A rare FBN1 gene mutation, typically linked to eye issues, was identified as a potential factor.

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Area of Science:

Cardiovascular Medicine
Genetics
Obstetrics & Gynecology

Background:

Acute aortic dissection (AAD) is a life-threatening condition involving a tear in the aorta.
Stanford type B AAD typically affects the descending aorta and is associated with hypertension and connective tissue disorders.
Pregnancy is a known risk factor for aortic dissection due to hemodynamic changes.

Observation:

A 34-week pregnant woman presented with symptoms of Stanford type B acute aortic dissection.
The patient exhibited no systemic features suggestive of Marfan syndrome.
Genetic analysis revealed a heterozygous mutation in the FBN1 gene (Arg545Cys).

Findings:

The identified FBN1 mutation (Arg545Cys) has previously been associated with ectopia lentis (lens dislocation).
This specific FBN1 mutation has not been previously linked to an increased risk of aortic dissection.
The case highlights a potential, albeit atypical, association between this FBN1 variant and aortic dissection in pregnancy.

Implications:

This case expands the known clinical spectrum associated with FBN1 mutations.
It suggests that genetic predisposition to aortic pathology may be more complex than previously understood.
Further research is warranted to explore the role of specific FBN1 variants in aortic dissection, particularly in pregnant individuals.