Physiologic or pathologic hypertrophy: how can we know?

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Pathologic left ventricular hypertrophy (LVH) from hypertrophic cardiomyopathy (HCM) is usually diagnosed via clinical and imaging data.
• Diagnostic uncertainty arises from concentric hypertrophy mimicking physiologic athlete's heart or from HCM phenocopies.

Discussion:

• Phenocopies such as Anderson-Fabry disease and cardiac amyloidosis present with LVH, complicating HCM diagnosis.
• Distinguishing features of these conditions are crucial for accurate diagnosis and patient management.
• Reviewing these entities aids in resolving diagnostic challenges in unclear HCM cases.

Key Insights:

• HCM diagnosis relies on clinical and imaging findings, but differentiation from other conditions is critical.
• Concentric hypertrophy can be mistaken for athlete's heart, necessitating further investigation.
• Anderson-Fabry disease and cardiac amyloidosis are key differential diagnoses for HCM.

Outlook:

• Further research into genetic markers and advanced imaging techniques will refine HCM diagnosis.
• Improved understanding of HCM phenocopies will enhance diagnostic accuracy and therapeutic strategies.
• This review provides a framework for clinicians facing diagnostic challenges in LVH evaluation.