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

Immediate Management of 27-Year-Old Female with Suspected Marfan Syndrome

This patient requires urgent transthoracic echocardiography within 24-48 hours to assess aortic root diameter and rule out life-threatening aortic dilatation or dissection, given her extremely high-risk family history of maternal death from aortic rupture at the same age. 1

Critical Context: Why This Is an Emergency

This patient's presentation represents a medical emergency masquerading as routine symptoms:

• Her mother died at age 27 from ruptured aorta - the exact age this patient is now - indicating aggressive familial aortopathy 2
• Dizziness and palpitations may represent cardiac manifestations of Marfan syndrome, including mitral valve prolapse, aortic regurgitation, or arrhythmias secondary to structural heart disease 1
• Approximately 15% of Marfan patients experience dissection at aortic diameters <5.0 cm, making size-based risk stratification alone insufficient 2
• Virtually every patient with Marfan syndrome develops aortic disease during their lifetime, with aortic complications being the primary cause of mortality 2, 1

Immediate Diagnostic Workup (Within 24-48 Hours)

Primary Imaging: Transthoracic Echocardiography

Order stat transthoracic echocardiography to measure: 1

• Aortic root diameter at the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta 1
• Left ventricular function 1
• Aortic valve morphology and degree of aortic regurgitation 1
• Mitral valve prolapse and mitral regurgitation 1
• Tricuspid valve abnormalities 1

Critical measurement technique: Echocardiography measures internal diameter; if CT or MRI is subsequently needed, external diameter measurements will be 0.2-0.4 cm larger 2

Concurrent Clinical Assessment

Perform focused physical examination looking for: 2

• Skeletal features: Arachnodactyly (thumb and wrist signs), arm span exceeding height by >5 cm, pectus deformities, scoliosis, high-arched palate 2
• Ocular findings: Ectopia lentis (lens dislocation) - this finding is highly specific for Marfan syndrome and differentiates it from Loeys-Dietz syndrome 2
• Skin manifestations: Striae atrophicae, recurrent hernias 2
• Cardiovascular signs: Diastolic murmur (aortic regurgitation), mid-systolic click (mitral valve prolapse) 1

Genetic Testing Strategy

Initiate genetic testing immediately: 3

• Test for FBN1 gene mutations (most common cause of Marfan syndrome) 2, 3
• Consider expanded panel including TGFBR1, TGFBR2 (Loeys-Dietz syndrome), COL3A1 (vascular Ehlers-Danlos), ACTA2, and MYH11 (familial thoracic aortic aneurysm/dissection) 3
• Critical caveat: Certain mutations (TGFBR1, TGFBR2) predispose to dissection at smaller diameters or even normal aortic size 3

Risk Stratification Based on Initial Echocardiogram

If Aortic Root Diameter ≥5.0 cm

Refer immediately to cardiothoracic surgery for prophylactic aortic root replacement 2, 1

• Surgical mortality at experienced centers is <1% for elective repair 4
• Annual risk of aortic events increases to 5.2% per year with diameters ≥50 mm 4

If Aortic Root Diameter 4.5-4.9 cm

Refer to cardiothoracic surgery for surgical evaluation and consider earlier intervention if: 2, 5

• Family history of dissection at <5.0 cm (which applies to this patient - mother died at 27) 5
• Rapid growth rate ≥0.5 cm/year 5
• Severe aortic regurgitation 5
• Patient desires pregnancy 2, 5

Initiate medical therapy immediately: 5

• Beta-blocker (target heart rate 60-70 bpm) 5
• Angiotensin receptor blocker in maximally tolerated doses 5
• Target systolic blood pressure <120 mmHg 5

Surveillance: Repeat echocardiography every 6 months 1, 5

If Aortic Root Diameter 4.0-4.4 cm

Initiate medical therapy: 5

• Beta-blocker and angiotensin receptor blocker as above 5

Apply aortic size index calculation: 2

• If maximal aortic cross-sectional area (cm²) divided by patient height (meters) exceeds ratio of 10, surgical repair is reasonable because shorter patients dissect at smaller absolute diameters 2

Surveillance: Repeat echocardiography every 6 months to establish growth rate 1

If Aortic Root Diameter <4.0 cm

Do not be falsely reassured - this patient remains extremely high-risk: 3

• Her mother died at this exact age, suggesting aggressive familial disease 3
• Dissection can occur at normal aortic diameters with certain genetic mutations 3

Management: 1, 5

• Initiate beta-blocker therapy 5
• Repeat echocardiography at 6 months to establish growth rate 1
• If stable, transition to annual surveillance 1

Addressing the Presenting Symptoms

Dizziness and Palpitations Workup

Obtain 12-lead ECG and consider: 1

• Holter monitor or event recorder to evaluate for arrhythmias
• Orthostatic vital signs
• These symptoms may represent mitral valve prolapse with associated arrhythmias, which occurs frequently in Marfan syndrome 1

Critical Activity Restrictions (Implement Immediately)

Counsel patient to avoid: 2

• Competitive athletics and contact sports
• Isometric exercise (weightlifting)
• Activities causing acute blood pressure surges
• Valsalva maneuvers

Permissible activities: Low-intensity aerobic exercise (walking, swimming at recreational pace) 2

Family Screening Cascade

All first-degree relatives require aortic imaging regardless of symptoms: 3

• If genetic mutation is identified in this patient, only relatives carrying the mutation need ongoing surveillance 3
• If no mutation identified, all first-degree relatives still require clinical screening 3

Common Pitfalls to Avoid

1. Do not delay echocardiography based on normal physical examination - thoracic aortic disease is typically asymptomatic until catastrophic events occur 3

2. Do not rely solely on revised Ghent criteria for diagnosis - this patient's family history alone warrants full cardiovascular evaluation 2

3. Do not use chest X-ray as screening tool - it lacks sensitivity for early aortic dilatation 1

4. Do not assume symptoms are benign - dizziness and palpitations may represent hemodynamically significant valvular disease or arrhythmias 1

5. Do not apply standard 5.5 cm surgical threshold - this patient likely requires earlier intervention given family history of early maternal death 2, 5

If Patient Presents with Acute Chest Pain

Immediately obtain: 5

• Chest X-ray and CT angiography of chest simultaneously 5
• Do not delay imaging for physical examination findings 5
• Assess for hemodynamic instability (hypotension, tachycardia) 5
• Type A dissection requires emergency surgical repair regardless of aortic diameter 5