What are the next steps in managing a 27-year-old female, 22 weeks pregnant, with a chief complaint of dizziness and palpitations, and a significant family history of Marfan syndrome, including a mother who died at age 27 due to a ruptured aorta?

Immediate Management of Suspected Marfan Syndrome in Pregnancy

This patient requires urgent transthoracic echocardiography within 24-48 hours to assess aortic root diameter, as she is at extremely high risk for life-threatening aortic dissection given her family history of maternal death from ruptured aorta at the same age. 1

Urgent Diagnostic Workup

• Obtain transthoracic echocardiography immediately to measure aortic root diameter and assess for aortic regurgitation, mitral valve prolapse, and any structural cardiac abnormalities that could explain her dizziness and palpitations 1, 2
• Perform ultrasound examination of the entire aorta to evaluate for dilatation beyond the aortic root, as extension to the aortic arch carries worse prognosis 2
• Evaluate for arrhythmias with ECG and consider Holter monitoring, as palpitations may represent cardiac manifestations of Marfan syndrome including arrhythmias secondary to structural heart disease 1
• Assess for clinical diagnostic criteria by examining for skeletal (tall stature, arachnodactyly, pectus deformity, scoliosis) and ocular manifestations (lens dislocation, myopia), as two out of three major systems must be classically affected for clinical diagnosis 2, 3

Risk Stratification Based on Aortic Root Diameter

The management algorithm depends critically on the aortic root measurement:

If Aortic Root <4.0 cm:

• Continue pregnancy with close monitoring as the risk of aortic dissection is approximately 1% 2
• Initiate beta-blocker therapy immediately to slow aortic dilatation and reduce hemodynamic stress 1, 2
• Perform serial echocardiography every 4-8 weeks throughout pregnancy to monitor for progressive dilatation 4

If Aortic Root 4.0-4.5 cm:

• Strongly consider pregnancy termination with prompt aortic repair, though this remains controversial 2
• If pregnancy continues, initiate beta-blocker therapy and perform echocardiography every 4 weeks, as the risk of dissection is approximately 10% 2
• Plan for cesarean delivery at 38 weeks to minimize hemodynamic stress 3

If Aortic Root ≥4.5 cm:

• Recommend pregnancy termination with urgent aortic root replacement, as this represents extremely high risk for maternal mortality 2
• If patient refuses termination, cesarean delivery is mandatory and should be planned with cardiothoracic surgery on standby 2

Medical Management During Pregnancy

• Start beta-blocker therapy immediately (propranolol or metoprolol) targeting heart rate 60-70 bpm to reduce aortic wall stress 2, 5
• Avoid ACE inhibitors and ARBs as they are contraindicated in pregnancy due to fetal toxicity, despite their benefit in non-pregnant Marfan patients 2
• Provide strict activity restrictions: avoid competitive athletics, contact sports, isometric exercise, and activities causing acute blood pressure surges or Valsalva maneuvers 1
• Ensure adequate analgesia during labor to prevent wide surges in blood pressure and its rate of rise (dP/dt) 2

Genetic Counseling and Fetal Assessment

• Offer genetic counseling immediately as Marfan syndrome is autosomal dominant with 50% transmission risk to offspring 2, 3
• Perform fetal echocardiography at 19-22 weeks to screen for congenital heart disease, which occurs in 2-16% of offspring of mothers with congenital heart disease 2
• Consider genetic testing if not previously performed, as identification of the specific mutation allows for prenatal diagnosis via chorionic villous sampling 2, 3

Delivery Planning

The mode and timing of delivery must be determined by aortic root diameter:

• For aortic root <4.5 cm: Vaginal delivery may be considered with expedited second stage, positioning in left lateral or semi-erect position to minimize aortic stress, and epidural anesthesia for optimal blood pressure control 2
• For aortic root ≥4.5 cm: Cesarean delivery is advised with general anesthesia to allow optimal hemodynamic control 2
• Avoid prolonged second stage of labor and use obstetric techniques (forceps, vacuum) to shorten expulsive efforts 2

Multidisciplinary Team Assembly

Immediately establish care coordination with Maternal-Fetal Medicine, Cardiology, Cardiothoracic Surgery, Genetics, and Anesthesia, as this patient requires specialists familiar with Marfan syndrome throughout pregnancy and delivery 4

Critical Pitfalls to Avoid

• Do not delay echocardiography based on normal physical examination, as thoracic aortic disease is typically asymptomatic until catastrophic dissection occurs 1
• Do not assume safety based on small aortic diameter alone, as approximately 15% of dissections occur at diameters <5.0 cm, and this patient's family history of early maternal death substantially increases risk even at smaller diameters 6, 5
• Do not underestimate third trimester risk, as dissection and rupture are most likely during the third trimester and near delivery when hemodynamic stress peaks 2, 6
• Remember poor wound healing is a feature of Marfan syndrome, requiring extended antibiotic coverage and sutures left in longer than normal postpartum 2

Family Screening

All first-degree relatives require aortic imaging regardless of symptoms, as the patient's siblings and any other children are at 50% risk if the mother was affected 1