Is peripheral edema a typical presentation of hypertrophic cardiomyopathy (HCM) in an 18-year-old?

Peripheral Edema in Hypertrophic Cardiomyopathy in Young Adults

Peripheral edema is not a typical presentation of hypertrophic cardiomyopathy (HCM) in an 18-year-old patient. While HCM can eventually lead to heart failure symptoms including peripheral edema, this is uncommon in adolescents and young adults with the condition 1.

Pathophysiology and Typical Presentation in Young Adults

HCM in young adults typically presents with:

• Exertional dyspnea
• Chest pain
• Dizziness
• Presyncope or syncope
• Palpitations

These symptoms primarily occur due to:

1. Diastolic dysfunction - Impaired ventricular filling due to abnormal relaxation and increased chamber stiffness 1
2. Left ventricular outflow tract obstruction (LVOTO)
3. Myocardial ischemia despite normal coronary arteries
4. Arrhythmias (particularly atrial fibrillation)

Why Peripheral Edema is Uncommon in Young HCM Patients

Several factors explain why peripheral edema is not typically seen in young HCM patients:

• Most young patients have preserved systolic function with a non-dilated left ventricle 1
• The disease has not typically progressed to advanced stages in adolescents
• Young patients (especially 18-year-olds) rarely develop the "end-stage" phenotype with systolic dysfunction that would lead to peripheral edema

When to Consider Alternative Diagnoses

If an 18-year-old with suspected HCM presents with peripheral edema, consider:

• Alternative or additional cardiac conditions
• Systemic conditions that might cause both HCM and edema
• Infiltrative diseases that can mimic HCM (e.g., amyloidosis, though extremely rare in this age group) 1
• Metabolic disorders or storage diseases 1
• Malformation syndromes (Noonan syndrome, LEOPARD syndrome) 1

Diagnostic Approach for Young HCM Patients

The 2024 AHA/ACC guidelines 1 recommend:

• Comprehensive echocardiography to assess:

  • Distribution and magnitude of LV hypertrophy
  • Presence of LVOTO
  • Mitral valve abnormalities
  • Systolic and diastolic function

• Cardiovascular magnetic resonance (CMR) when:

  • Echocardiographic images are suboptimal
  • Apical hypertrophy is suspected
  • Assessment of fibrosis via late gadolinium enhancement is needed

Clinical Pearls and Pitfalls

• Pitfall: Assuming peripheral edema in a young adult must be cardiac in origin
• Pitfall: Missing the diagnosis of HCM because you're looking for classic heart failure signs like edema
• Pearl: Young HCM patients typically present with exertional symptoms rather than fluid retention
• Pearl: Tissue Doppler imaging can help differentiate pathological HCM from physiological hypertrophy in athletes 2

If peripheral edema is present in a young patient with confirmed HCM, consider:

1. Disease progression to systolic dysfunction (uncommon at this age)
2. Severe diastolic dysfunction with elevated filling pressures
3. Concurrent non-cardiac causes of edema
4. Rare complications like acute pulmonary edema (which can occur in specific situations such as postpartum) 3