LAUSR

Contrast-enhanced cardiovascular magnetic resonance (CMR) imaging is employed to identify areas of late gadolinium enhancement (LGE) inferred to represent fibrosis and scarring. However, despite reports in ischaemic heart disease, direct correlations of LGE to myocardial scarring in heart specimens from the same patient with left ventricular hypertrophy remain limited (including hypertrophic cardiomyopathy and LAMP2 cardiomyopathy). This reports addresses whether areas of LGE do in fact represent myocardial fibrosis in LAMP2 cardiomyopathy. The patient was 19 years of age and asymptomatic when first investigated for Wolff–Parkinson–White. CMR showed hypertrophy predominantly in lateral LV free wall (20 mm) and ventricular septum (17 mm); LGE was diffusely distributed. Genetic testing showed a mutation (121delT) in the gene encoding lysosomal associated membrane protein 2, diagnostic of LAMP2 (Danon) disease. The patient remained asymptomatic until age 21 when he developed increasing heart failure symptoms, systolic dysfunction, and received a heart transplant at age 24. One year post-transplant he is asymptomatic. The explanted heart was examined grossly for LV scarring (Figure) with representative short-axis cuts (B and D) compared with clinical CMR images (A and C), taken from the same areas in mid-ventricular (A and B) and distal LV (C and D). Histopathology from boxed areas (C and D) showed scarring (stained blue in E and F) with vacuolization (arrows F), corresponding to areas of LGE (Masson’s trichrome stain; 800). Based on gross inspection, areas of LV myocardial scarring outlined in B and D corresponded closely in distribution and extent to the bright white areas of LGE in A and C.