Genetics, Pregnancy, and Aortic Degeneration

Area of Science:

• Cardiovascular Genetics
• Maternal-Fetal Medicine
• Aortic Diseases

Background:

• Familial thoracic aortic aneurysm and dissection (FTAAD) is an inherited condition affecting aortic wall integrity, often linked to genetic mutations like MYH11.
• Pregnancy exacerbates aortic disease due to increased cardiovascular stress and hormonal changes affecting aortic tissue.
• The MYH11 gene mutation contributes to aortic medial degeneration, predisposing individuals to thoracic aortic aneurysm and dissection (TAAD).

Observation:

• A 29-year-old pregnant patient (26 weeks gestation) presented with symptoms suggestive of aortic compromise.
• Diagnostic imaging revealed a large ascending aortic aneurysm with Type A dissection, aortic coarctation, and a separate Type B dissection involving visceral arteries.
• The patient had a known MYH11 mutation, a genetic cause of FTAAD.

Findings:

• This is the first reported case of aortic dissection in a pregnant patient with FTAAD associated with an MYH11 mutation.
• The patient underwent a complex surgical procedure including cesarean delivery, ascending aorta and arch reconstruction, and aortic valve resuspension.
• The Type B dissection was successfully managed medically.

Implications:

• Pregnancy and genetic factors like MYH11 mutations independently and synergistically compromise aortic integrity.
• Management requires a multidisciplinary team, tertiary center referral, genetic evaluation, and close fetal monitoring for pregnant patients with aortopathy.
• Understanding the distinct mechanisms of aortic degeneration in FTAAD and pregnancy is crucial for optimal patient care.