Endocardial thickening in dilated cardiomyopathy associated with FHL2 variant: a case report.

A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 is linked to endocardial thickening in a 30-day-old infant with severe dilated cardiomyopathy.

• Why it matters: Understanding genetic causes of early-onset DCM is crucial for accurate diagnosis and management, especially when secondary endocardial changes may mimic primary conditions like EFE.
• What they did: The study reports a case of a de novo FHL2 variant identified through genetic testing, with echocardiography revealing left ventricular enlargement, low LVEF, and endocardial thickening, and follow-up showing persistent low LVEF.
• The result: Findings suggest that the FHL2 variant is associated with DCM and that endocardial thickening may be a secondary change, highlighting the importance of genetic testing for differential diagnosis of endocardial abnormalities.