Aortic Disease (Heritable Thoracic Aortic Disease)¶
Learning Objectives¶
Core Knowledge & Clinical Reasoning¶
- [ ] Apply syndrome-specific surgical thresholds (Marfan ≥5.0, LDS ≥4.2, vascular EDS emergencies only)
- [ ] Identify risk factors for earlier surgery (rapid growth >0.5 cm/year, family history, planned pregnancy, AR)
- [ ] Differentiate medical therapy by syndrome (Marfan: BB or ARB equally; LDS: ARB preferred)
- [ ] Recognize vascular EDS as highest-risk with surgery reserved for emergencies only
Management Decisions¶
- [ ] Formulate imaging surveillance protocol by aortic size and condition (annual vs every 6 months)
- [ ] Determine pre-pregnancy surgical indications by syndrome
- [ ] Select delivery mode based on aortic dimensions (cesarean if ≥4.5 cm)
Communication & Counseling¶
- [ ] Counsel patients on dissection risk and warning signs requiring emergency evaluation
- [ ] Provide comprehensive pre-conception counseling including surgical options and pregnancy timing
- [ ] Discuss exercise modifications appropriate to condition
Systems-Based Practice¶
- [ ] Implement first-degree relative screening for TAA/dissection (aortic imaging - Class I)
- [ ] Coordinate genetic testing and cascade testing when variants identified
- [ ] Develop emergency contact plan for patients at high dissection risk
Key Guidelines¶
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease Circulation. 2022;146:e334-e482
Scope¶
Covers: - Marfan syndrome - Loeys-Dietz syndrome - Vascular Ehlers-Danlos syndrome - Bicuspid aortic valve aortopathy - Turner syndrome - Nonsyndromic HTAD
Surgical Thresholds by Syndrome¶
| Syndrome | Gene | Threshold |
|---|---|---|
| Marfan syndrome | FBN1 | ≥5.0 cm (Class I); ≥4.5 cm with risk factors (Class IIa) |
| Loeys-Dietz (TGFBR1/2) | TGFBR1/2 | ≥4.2 cm |
| Loeys-Dietz (SMAD2/3) | SMAD2/3 | ≥4.2-4.5 cm |
| Loeys-Dietz (TGFB2/3) | TGFB2/3 | ≥4.5 cm |
| Vascular EDS | COL3A1 | Surgery for emergency only |
| Turner syndrome | 45,X | ASI ≥2.5 cm/m² |
| BAV aortopathy | Various | ≥5.5 cm (or 5.0 with risk factors) |
Risk Factors for Earlier Surgery¶
- Rapid growth (>0.5 cm/year)
- Family history of dissection
- Planned pregnancy
- Significant AR
Medical Therapy¶
| Syndrome | Treatment | Class |
|---|---|---|
| Marfan | Beta-blocker OR ARB | I |
| Loeys-Dietz | ARB (preferred) or beta-blocker | IIa |
| BAV with dilation | Beta-blocker | IIa |
| All | BP control | I |
Family Screening¶
Class I Recommendations¶
- First-degree relatives of TAA/dissection patients: Aortic imaging
- Genetic testing if: syndromic features, family history, early-onset (<60 years)
- Cascade genetic testing if pathogenic variant identified
Imaging Surveillance¶
| Population | Frequency |
|---|---|
| Stable aneurysm <4.5 cm | Annual |
| Aneurysm ≥4.5 cm or rapid growth | Every 6 months |
| Post-surgical repair | Within 1 year, then per residual findings |
Pregnancy Recommendations¶
Pre-Pregnancy Counseling Required (Class I)¶
- Aortic imaging before pregnancy
- Risk stratification
- Medication adjustment (stop ACEi/ARB)
Pre-Pregnancy Surgery Recommended If:¶
| Syndrome | Threshold |
|---|---|
| Marfan | >4.5 cm aortic root |
| Turner | ASI ≥2.5 cm/m² |
| BAV | ≥5.0 cm |
| Loeys-Dietz (TGFB2/3) | ≥4.5 cm |
Delivery¶
- Cesarean section if aortic diameter ≥4.5 cm
Exercise Recommendations¶
- Avoid intense isometric exercise
- Avoid burst activities
- Collision/contact sports restricted
- Mild-moderate aerobic training reasonable with BP control
- Individualized assessment
Vascular EDS Special Considerations¶
- Most fragile vessels
- Surgery ONLY for life-threatening complications
- Avoid unnecessary interventions
- Pregnancy contraindicated (high mortality risk)
Board Pearls¶
Pearl: Marfan: Surgery at ≥5.0 cm (or ≥4.5 cm with risk factors)
Beta-blockers OR ARBs equally effective
Pearl: First-degree relatives of TAA/dissection need aortic imaging
Class I recommendation
Pearl: Vascular EDS: Surgery only for emergencies
Most fragile; avoid elective interventions
Self-Assessment¶
Q1: A 16-year-old with genetically confirmed Marfan syndrome has aortic root of 4.7 cm. His uncle had aortic dissection at age 40. What is recommended?
Answer
**Answer**: Surgery is recommended (≥4.5 cm threshold met with family history risk factor) **Rationale**: Per 2022 ACC/AHA guidelines, Marfan patients with family history of dissection have a surgical threshold of ≥4.5 cm (Class IIa). At 4.7 cm with family history, surgery is indicated.Related Topics¶
References¶
- Circulation. 2022;146:e334-e482