What is the recommended interval for echo screening in patients with Hypertrophic Cardiomyopathy (HCM)?

Recommended Intervals for Echocardiographic Screening in Hypertrophic Cardiomyopathy (HCM)

Transthoracic echocardiography (TTE) studies should be performed every 1 to 2 years in the serial evaluation of symptomatically stable patients with HCM to assess the degree of myocardial hypertrophy, dynamic obstruction, and myocardial function. 1

Screening Recommendations Based on Patient Status

For Diagnosed HCM Patients

• TTE studies should be performed every 1 to 2 years in symptomatically stable patients with HCM 1
• Repeat TTE is recommended whenever there is a change in clinical status or new cardiovascular event 1
• Annual 12-lead ECGs should accompany echocardiographic monitoring to evaluate for asymptomatic changes in conduction or rhythm 1
• 24-hour ambulatory (Holter) electrocardiographic monitoring should be repeated every 1 to 2 years to assess for asymptomatic paroxysmal atrial fibrillation/flutter and to identify patients who may be candidates for ICD therapy 1

For Family Members of HCM Patients

• For genotype-positive individuals who do not express the HCM phenotype:

  • Children and adolescents: Serial ECG, TTE, and clinical assessment every 12 to 18 months 1
  • Adults: Serial ECG, TTE, and clinical assessment approximately every 5 years 1

• For family members with unknown genetic status (when genetic testing is not performed or is ambiguous):

  • Children under 12 years: Screening is optional unless there is a malignant family history of premature death, the child is a competitive athlete, symptoms develop, or there is clinical suspicion of early LV hypertrophy 1
  • Adolescents (12 to 18-21 years): TTE and ECG screening every 12-18 months 1
  • Adults (over 18-21 years): TTE and ECG screening at onset of symptoms or at least every 5 years 1
  • More frequent intervals are appropriate in families with a malignant clinical course or late-onset HCM 1

• For genotype-negative relatives in families with known definitive mutations:

  • Ongoing clinical screening is not indicated 1

Special Considerations

• Exercise TTE should be considered in patients with HCM who do not have resting outflow tract obstruction to detect and quantify exercise-induced dynamic LVOT obstruction 1

• TTE should not be performed more frequently than every 12 months when it is unlikely that any changes have occurred that would impact clinical decision making 1

• When screening family members, consider that some relatives may develop late-onset left ventricular hypertrophy well into adulthood, which supports the recommendation for continued screening beyond adolescence 2

• For children of HCM patients, screening should start by age 12 years or earlier if a growth spurt or signs of puberty are evident, especially when there are plans for engaging in intense competitive sports or there is a family history of sudden cardiac death 1

• Cardiac MRI should be considered when echocardiography is inconclusive or when additional information about the magnitude and distribution of hypertrophy may impact management decisions 1, 3

Pitfalls to Avoid

• Do not discontinue screening in family members after adolescence based solely on normal findings, as delayed-onset hypertrophy can occur in adulthood 2

• Do not rely solely on wall thickness measurements; comprehensive assessment should include evaluation of dynamic obstruction and myocardial function 3, 4

• Avoid overreliance on a single imaging modality when findings are equivocal; consider complementary techniques such as cardiac MRI when appropriate 1, 3

• Do not neglect to assess for complications such as atrial fibrillation, ventricular arrhythmias, and mitral valve insufficiency during follow-up echocardiography 5, 4