Abstract
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by unexplained left ventricular hypertrophy (LVH), diastolic dysfunction, and increased sudden-death risk. Early detection of the phenotypic expression of the disease in genetic carriers without LVH (Gen+/Phen−) is crucial for emerging therapies. This clinical study aims to identify echocardiographic predictors of phenotypic development in Gen+/Phen−. Sixteen Gen+/Phen− (one subject with troponin T, six with myosin heavy chain-7, and nine with myosin-binding protein C3 mutations), represented the study population. At first and last visit we performed comprehensive 2D speckle-tracking strain echocardiography. During a follow-up of 8 ± 5 years, five carriers developed LVH (LVH+). At baseline, these patients were older than those who did not develop LVH (LVH-) (30 ± 8 vs. 15 ± 8 years, p = 0.005). LVH+ had reduced peak global strain rate during the isovolumic relaxation period (SRIVR) (0.28 ± 0.05 vs. 0.40 ± 0.11 1/s, p = 0.048) and lower global longitudinal strain (GLS) (−19.8 ± 0.4 vs. −22.3 ± 1.1%; p < 0.0001) than LVH- at baseline. SRIVR and GLS were not correlated with age (overall, p > 0.08). This is the first HCM study investigating subjects before they manifest clinically significant or relevant disease burden or symptomatology, comparing at baseline HCM Gen+/Phen− subjects who will develop LVH with those who will not. Furthermore, we identified highly sensitive, easily obtainable, age- and load-independent echocardiographic predictors of phenotype development in HCM gene carriers who may undergo early preventive treatment.
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MDPI and ACS Style
Canciello, G.; Lombardi, R.; Borrelli, F.; Ordine, L.; Chen, S.-N.; Santoro, C.; Frisso, G.; di Napoli, S.; Polizzi, R.; Cristiano, S.;
et al. Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers. Int. J. Mol. Sci. 2024, 25, 8128.
https://doi.org/10.3390/ijms25158128
AMA Style
Canciello G, Lombardi R, Borrelli F, Ordine L, Chen S-N, Santoro C, Frisso G, di Napoli S, Polizzi R, Cristiano S,
et al. Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers. International Journal of Molecular Sciences. 2024; 25(15):8128.
https://doi.org/10.3390/ijms25158128
Chicago/Turabian Style
Canciello, Grazia, Raffaella Lombardi, Felice Borrelli, Leopoldo Ordine, Suet-Nee Chen, Ciro Santoro, Giulia Frisso, Salvatore di Napoli, Roberto Polizzi, Stefano Cristiano,
and et al. 2024. "Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers" International Journal of Molecular Sciences 25, no. 15: 8128.
https://doi.org/10.3390/ijms25158128
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