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Case 013: Teenager with Tall Stature and Murmur

Presentation

A 15-year-old male is referred by his pediatrician after being noted to have a heart murmur during routine physical. He is tall for his age and has been wearing glasses since age 8.

Family History: Mother has "heart problems" and has had surgery. Maternal uncle died suddenly at age 32.

Physical Exam: - Height: 188 cm (>99th percentile) - Arm span: 195 cm (arm span > height) - High-arched palate - Pectus excavatum - Joint hypermobility (positive wrist and thumb signs) - Grade 2/6 diastolic murmur at left sternal border - Grade 2/6 systolic click and murmur at apex

Clinical Reasoning

Question 1: What syndrome is suspected?

Answer **Marfan Syndrome** Clinical features present: - Tall stature with arm span > height (dolichostenomelia) - High-arched palate - Pectus excavatum - Joint hypermobility (positive thumb/wrist signs) - Early myopia (glasses since age 8 - consider ectopia lentis) - Cardiac murmurs - Family history of "heart problems" and sudden death **Revised Ghent Criteria for diagnosis:** - Aortic root Z-score ≥2 + ectopia lentis = Definite Marfan - OR Aortic root Z-score ≥2 + FBN1 mutation - OR Family history + aortic root Z-score ≥2

Question 2: What cardiac findings do the murmurs suggest?

Answer **Two separate findings:** 1. **Diastolic murmur at LSB** → Aortic regurgitation - From aortic root dilation 2. **Systolic click + murmur at apex** → Mitral valve prolapse - Present in 60-80% of Marfan patients - May have MR **Both are classic cardiac manifestations of Marfan syndrome**

Workup

Ophthalmology exam: - Ectopia lentis (superiorly displaced lens) - bilateral

Echocardiogram: - Aortic root: 42mm (Z-score +4.2) - Moderate aortic regurgitation - Mitral valve prolapse with mild MR - Normal LV function

Question 3: Does he meet diagnostic criteria?

Answer **YES - Definite Marfan Syndrome** Per Revised Ghent Criteria: - **Aortic root Z-score ≥2** ✓ (Z +4.2) - **Ectopia lentis** ✓ Having BOTH = definite Marfan diagnosis **Systemic score would also support:** - Wrist AND thumb sign (+3) - Pectus excavatum (+1) - Dolichostenomelia (+1) - High-arched palate (+1) - Myopia >3 diopters (+1) Genetic testing (FBN1) can confirm but is not required for diagnosis.

Management

Question 4: What medical therapy is indicated?

Answer **First-line: Beta-blocker OR ARB** Per 2024 AHA aortopathy guidelines: - **Both equally effective** (Class I recommendation) - Start at diagnosis regardless of aortic size - Goal: Reduce aortic wall stress **Options:** - Atenolol or metoprolol (beta-blocker) - Losartan (ARB) - TRANSFORMS trial showed benefit **Mechanism:** - Beta-blockers: Reduce dP/dt and heart rate - ARBs: Block TGF-β signaling (important in Marfan pathophysiology)

Question 5: What is the surgical threshold?

Answer **For Marfan syndrome:** **Class I (Surgery Recommended):** - Aortic root ≥5.0 cm **Class IIa (Surgery Reasonable):** - Aortic root ≥4.5 cm with risk factors: - Family history of dissection - Rapid growth (>0.5 cm/year) - Planned pregnancy - Significant AR **This patient:** - Root 4.2 cm - below surgical threshold - Has AR - may progress - Close surveillance needed **Surgical options:** - Valve-sparing root replacement (David procedure) - preferred if possible - Composite root replacement (Bentall) - if valve not reparable

Question 6: What activity restrictions apply?

Answer **Exercise restrictions for Marfan with aortopathy:** **Avoid:** - Competitive sports (especially burst activities) - Heavy weight lifting / intense isometric exercise - Contact/collision sports - Activities with sudden acceleration/deceleration **Acceptable:** - Low-moderate aerobic exercise - Walking, swimming, cycling at recreational level - Maintain active lifestyle safely **Individualize based on:** - Aortic root size - Rate of progression - Associated features (significant AR, etc.)

Follow-up

At 6-month follow-up: - On atenolol 50mg daily - Aortic root: 42mm (stable) - Tolerating medication well

At 2-year follow-up (age 17): - Aortic root: 48mm (growth over 2 years) - Now moderate-severe AR - LV mildly dilated

Question 7: What is the recommendation now?

Answer **Surgical consultation recommended** **Current status:** - Approaching surgical threshold (4.8 cm, threshold 5.0 cm) - Progressing AR with LV dilation - Growth rate ~3mm/year **Recommendation:** - Refer to cardiac surgery - Discuss timing of intervention - May benefit from surgery before reaching 5.0 cm given: - Progressive AR - LV dilation - Young age (better outcomes with elective vs urgent) **Genetic counseling:** - Autosomal dominant - 50% risk to offspring - Family screening (mother needs evaluation!)

Teaching Points

  1. Revised Ghent: Aortic root Z ≥2 + ectopia lentis = Marfan
  2. Beta-blockers OR ARBs - both Class I for Marfan
  3. Surgery at ≥5.0 cm (or ≥4.5 cm with risk factors)
  4. Valve-sparing repair preferred when possible
  5. Avoid intense isometric exercise and contact sports
  6. Screen first-degree relatives