Myocardial fatty Foci in adult patients with tuberous sclerosis complex: association with gene mutation and multiorgan involvement

Purpose To estimate the association between myocardial fatty foci (MFF) on chest computed tomographic (CT) images and type of gene mutation or multiorgan involvement in patients with tuberous sclerosis complex (TSC). Materials and Methods This retrospective case-control study was approved by the ethics committee, which waived the need for patient consent. Forty-eight patients with definite TSC (41 women; mean age, 35 years ± 11 [standard deviation]) and 96 age- and sex-matched patients without TSC who had undergone chest CT were evaluated. Two blinded readers independently scored MFF as low-attenuation areas within the myocardium. Patient history, gene mutation, and multiorgan involvement were obtained from clinical records. Cohen κ, Mann-Whitney U, χ(2) or Fisher exact, Kruskal-Wallis, and Spearman statistics were calculated. Results One or more MFF was detected in 50% (24 of 48) of patients with TSC; however, no MFF was detected in control patients (P < .001). MFFs were oval (62%, 15 of 24) or linear (38%, nine of 24) and involved the left ventricle in 13 patients and both ventricles in 24 patients (mostly the apical or midleft ventricle); median size was 127 mm(2). After four patients with TSC and unknown mutational status (two with MFF) were excluded, MFF was detected in 53% (10 of 19) of patients with TSC1 mutation, 65% (11 of 17) of patients with TSC2 mutation, and 12% (one of eight) of patients with TSC but without an identified mutation (P = .044). MFF presence was associated with brain (P = .011) and multiorgan (P = .008) involvement. The number of MFF per patient correlated with the degree of multiorgan involvement (P = .014). With MFF considered predictive of TSC, 50% (24of 48) sensitivity, 100% (96 of 96) specificity, 100% (24 of 24) positive predictive value, and 80% (96 of 120) negative predictive value were obtained. Conclusion MFF was highly specific for TSC. MFF presence was associated with TSC gene mutations and with brain or multiorgan involvement; their number per patient was correlated with the degree of multiorgan involvement.