Tip of the iceberg: a tertiary care centre retrospective study of left ventricular hypertrophy aetiologies

AIMS: To phenotype patients referred to a tertiary centre for the exploration of a left ventricular hypertrophy (LVH) starting from 12 mm of left ventricular wall thickness (LVWT). METHODS AND RESULTS: Consecutive patients referred for aetiological workup of LVH, beginning at 12 mm of LVWT were retrospectively included in this tertiary single-centred observational study. Patients presenting with severe aortic stenosis were excluded. Aetiological workup was reviewed for each subject and aetiologies were adjudicated by expert consensus. Among 591 patients referred for LVH aetiological workup, 41% had a maximal LVWT below 15 mm. LVH aetiologies were led by cardiac amyloidosis (CA, 34.3%), followed by sarcomeric hypertrophic cardiomyopathy (S-HCM, 32.1%), hypertensive cardiomyopathy (21.7%), unknown aetiology (7.6%) and other (4.2%), including Anderson-Fabry’s disease (1.7%). CA and S-HCM affected over 50% of patients with mild LVH (12–14 mm); the prevalence of these aetiologies rose with LVH severity. Among patients with Anderson-Fabry’s disease, 4 (40%) had a maximal LVWT <15 mm. CONCLUSIONS: Mild LVH (ie, 12–14 mm) conceals multiple aetiologies that can lead to specific treatment, cascade family screening and specific follow-up. Overall, CA is nowadays the leading cause of LVH in tertiary centers.