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Aortopathy: Recognition for Residents

Learning Objectives

By the end of this rotation, you should be able to:

  1. Identify patients at risk for aortic dilation/dissection
  2. Recognize Marfan syndrome features on physical exam
  3. Know when to refer to cardiology for aortic evaluation
  4. Understand basic activity restrictions for patients with aortopathy

What Is Aortopathy?

Aortopathy refers to conditions affecting the aortic wall, leading to: - Aortic dilation (aneurysm) - Risk of dissection or rupture

In children, this is almost always due to connective tissue disorders or CHD.

At-Risk Conditions

Condition Risk Level
Marfan syndrome High
Loeys-Dietz syndrome Very high
Turner syndrome Moderate (especially with BAV)
Bicuspid aortic valve Moderate
Coarctation of the aorta (even repaired) Moderate
Ehlers-Danlos (vascular type) Very high
Family history of aortic dissection Screen

Marfan Syndrome: Key Features to Recognize

Skeletal

  • Tall, thin habitus (arm span > height)
  • Arachnodactyly (long, thin fingers)
  • Pectus excavatum or carinatum
  • Scoliosis
  • Joint hypermobility

Ocular

  • Lens dislocation (ectopia lentis)
  • Severe myopia

Cardiovascular

  • Aortic root dilation
  • Mitral valve prolapse
  • Aortic regurgitation

Tip: If you see a tall, thin patient with chest wall deformity and joint hypermobility, think Marfan and refer for cardiac evaluation.

When to Refer to Cardiology

Urgent Referral

Finding Concern
Acute chest/back pain in at-risk patient Possible dissection - EMERGENCY
Syncope in known Marfan Arrhythmia or hemodynamic compromise

Non-Urgent Referral

  • Marfanoid habitus for baseline evaluation
  • Family history of Marfan, Loeys-Dietz, or early dissection
  • Turner syndrome (need baseline aortic imaging)
  • Bicuspid aortic valve (need aortic surveillance)
  • Any known aortopathy syndrome

Activity Restrictions - Know the Basics

Patients with aortic dilation are restricted from:

Avoid Examples
Competitive sports (especially static/isometric) Weightlifting, football
High-intensity isometric exercise Heavy lifting
Contact sports Risk of chest trauma

Allowed (usually): Walking, cycling, swimming at moderate intensity

Always defer to cardiology for specific recommendations.

Aortic Dissection - A True Emergency

Red Flags

  • Sudden, severe chest or back pain ("tearing")
  • Pain radiating to back
  • Differential blood pressures between arms
  • Shock out of proportion to visible injury

If You Suspect Dissection

  1. Call for help immediately (PICU, surgery, cardiology)
  2. Control blood pressure - avoid hypertension
  3. CT angiography or TEE for diagnosis
  4. This is a surgical emergency

Key Teaching Points for Residents

  1. Marfanoid features = cardiology referral for baseline echo
  2. Turner syndrome needs aortic imaging - higher dissection risk
  3. Bicuspid aortic valve is associated with aortopathy
  4. Avoid heavy lifting and contact sports in aortopathy patients
  5. Acute chest/back pain in at-risk patient = think dissection - emergency
  6. Family history of early dissection warrants screening

Key Guidelines

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease Circulation. 2022;146(24):e334-e482 PMID: 36322642

2022 ACC/AHA Guideline for Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy (includes aortic surveillance in HCM) Circulation. 2022;145(18):e906-e958 PMID: 34929973

Board Pearls

Pearl: Arm span > height + pectus + hypermobility = Marfan until proven otherwise

These patients need echo and ophthalmology evaluation. Aortic root dilation and lens dislocation confirm diagnosis.

Pearl: Turner syndrome needs aortic imaging even without symptoms

Bicuspid aortic valve occurs in 15-30% of Turner patients, and aortic dissection risk is elevated. Screen all Turner patients.

Pearl: Acute chest/back pain in aortopathy patient = dissection until proven otherwise

This is a surgical emergency. Get CT angiography or TEE immediately and call surgery.