The combination of EF ≥68% and Ea velocity <15 cm/s was 100% specific and 44% sensitive in predicting affected genotype.Ĭonclusions- Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by β -MHC mutations. An Ea velocity of ≤13.5 cm/s had 86% specificity and 75% sensitivity for identifying genotype-positive subjects. However, there was substantial overlap in Ea velocities between the G+/LVH− and control groups. Mean early diastolic myocardial velocities (Ea) were significantly lower in both genotype (+) subgroups, irrespective of LVH ( P<0.02).
Left ventricular ejection fraction (EF) was significantly higher in both genotype (+) groups (75±5% and 71☖%, respectively, versus 64± 5% in control subjects P<0.0001). Genotype (+) individuals with LVH (G+/LVH+ n=18) and genotype (+) individuals without LVH (G+/LVH− n=18) were compared with normal control subjects (n=36).
Methods and Results- Echocardiographic studies including Doppler tissue imaging (DTI) were performed in a genotyped HCM population with β-myosin heavy chain (β -MHC) mutations. Altered diastolic function has been hypothesized to represent an earlier manifestation of HCM before the development of LVH however, data regarding the clinical utility of imaging techniques that assess this parameter are limited.
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