Late Phenotypic Expression of Hypertrophic Cardiomyopathy: When to Stop Looking?

Area of Science:

• Cardiology
• Genetics
• Medical Diagnostics

Background:

• Current guidelines recommend periodic screening for hypertrophic cardiomyopathy (HCM) in specific at-risk adult populations.
• Screening protocols involve clinical assessment, electrocardiograms, and imaging every 3-5 years.
• The optimal age to discontinue screening for individuals at risk of developing HCM remains undefined.

Observation:

• This study presents four cases of individuals who were initially phenotype-negative for HCM but later transitioned to a phenotype-positive state.
• These transitions occurred at various ages, indicating a dynamic disease progression.
• The individuals studied had varying genetic and familial risk factors for HCM.

Findings:

• The transition from a phenotype-negative to a phenotype-positive state for hypertrophic cardiomyopathy can occur across a wide range of adult ages.
• There is no clear age threshold at which screening for HCM can be safely stopped in at-risk individuals.
• Individual variability in disease manifestation and progression is significant in HCM.

Implications:

• The findings suggest that current screening guidelines may need revision regarding the cessation age for HCM surveillance.
• Extended or lifelong screening may be warranted for individuals at risk of developing HCM, particularly those with genetic predispositions.
• Further research is needed to establish definitive criteria for discontinuing HCM screening.