Three-dimensional echocardiography reveals early mitral valve alterations in hypertrophic cardiomyopathy genetic mutation carriers

The mitral valve undergoes structural modifications in response to cardiac functional changes, often predating cardiac decompensation and overt clinical signs. Our study assessed the potential of mitral valve morphological changes as early indicators for detecting carriers of hypertrophic cardiomyopathy (HCM)-associated gene mutations. We studied 505 participants: 189 without the pathogenic gene mutations and left ventricular hypertrophy (G-/LVH-), 149 carriers without LV hypertrophy (G+/LVH-), and 167 manifest HCM patients (G+/LVH+). We juxtaposed the mitral valve morphology and associated metrics across these groups, emphasizing those carrying MYH7 and MYBPC3 mutations. We discerned pronounced disparities in the mitral annulus and leaflet structures across the groups. The mitral valve apparatus in mutation carriers exhibited a tendency towards a flattened profile. Detailed analysis spotlighted MYBPC3 mutation carriers, whose mitral valves were notably flatter (with notably lower AHCWR values than non-carriers); this contrast was not evident in MYH7 mutation carriers. This mitral valve flattening, manifest in the mutation carriers, suggests it might be an adaptive response to incipient cardiac dysfunction in HCM's nascent stages. Three-dimensional echocardiography illuminates the initial mitral valve structural changes in HCM patients bearing pathogenic gene mutations. These morphological signatures hold promise as sensitive imaging markers, especially for asymptomatic carriers of the MYBPC3 mutation. •Employed 3D echocardiography to investigate mitral valve changes in HCM gene mutation carriers.•Found pronounced disparities in the mitral annulus and leaflet structures among mutation carriers, HCM patients, and non-carriers.•MYBPC3 mutation carriers displayed notably flatter mitral valves compared to MYH7 mutation carriers, suggesting potential variations in early cardiac alterations between these mutations.•Mitral valve remodeling can be a direct and sensitive indicator of aberrations in cardiac function, often emerging even before overt cardiac decline.•Emphasized the potential of 3D mitral valve morphology as a key imaging marker for the early detection and management of HCM pathogenic gene mutation carriers.