The systolic paradox in hypertrophic cardiomyopathy

OBJECTIVE: We explored cardiac volumes and the effects on systolic function in hypertrophic cardiomyopathy (HCM) patients with left ventricular hypertrophy (HCM LVH+) and genotype-positive patients without left ventricular hypertrophy (HCM LVH−). METHODS: We included 180 HCM LVH+, 100 HCM LVH− patients and 80 healthy individuals. End-Diastolic Volume Index (EDVI), End-Systolic Volume Index (ESVI) and ejection fraction (EF) were assessed by echocardiography. Left ventricular (LV) global longitudinal strain (GLS) was measured by speckle tracking echocardiography. RESULTS: EDVI and ESVI were significantly smaller in HCM LVH+ compared with HCM LVH− patients (41±14 mL/m(2) vs 49±13 mL/m(2) and 16±7 mL/m(2) vs 19±6 mL/m(2), respectively, both p<0.001) and in healthy individuals (41±14 mL/m(2) vs 57±14 mL/m(2) and 16±7 mL/m(2) vs 23±9 mL/m(2), respectively, both p<0.001). HCM LVH− patients had significantly lower EDVI and ESVI compared with healthy individuals (49±13 mL/m(2) vs 57±14 mL/m(2) and 19±6 mL/m(2) vs 23±9 mL/m(2), both p<0.001). EF was similar (61%±7% vs 60%±8% vs 61%±6%, p=0.43) in the HCM LVH+, HCM LVH– and healthy individuals, despite significantly worse GLS in the HCM LVH+ (−16.4%±3.7% vs −21.3%±2.4% vs −22.3%±3.7%, p<0.001). GLS was worse in the HCM LVH− compared with healthy individuals in pairwise comparison (p=0.001). Decrease in ESVI was closely related to EF in HCM LVH+ and HCM LVH− (R=0.45, p<0.001 and R=0.43, p<0.001) as expected, but there was no relationship with GLS (R=0.02, p=0.77 and R=0.11, p=0.31). Increased maximal wall thickness (MWT) correlated significantly with worse GLS (R=0.58, p<0.001), but not with EF (R=0.018, p=0.30) in the HCM LVH+ patients. CONCLUSION: HCM LVH+ had smaller cardiac volumes that could explain the preserved EF, despite worse GLS that was closely related to MWT. HCM LVH− had reduced cardiac volumes and subtle changes in GLS compared with healthy individuals, indicating a continuum of both volumetric and systolic changes present before increased MWT.