Abstract P159: Echocardiographic Cardiac Phenotype in Val122Ile Variant Transthyretin Amyloidosis Among Hispanics/Latinos: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

Abstract

Background: Transthyretin amyloidosis, most often caused by Val122Ile mutation, is linked to a higher risk of heart failure (HF) and mortality. Subclinical abnormalities in cardiac structure and function linked to Val122Ile mutations are less well defined in Hispanics/Latinos. We studied the cardiac phenotype of Hispanic/Latino Val122Ile carriers versus non-carriers. Methods: Val122Ile carrier status was determined with genome-wide data. We analyzed echocardiographic data from adults 45 years or older (unweighted n= 6376) from HCHS/SOL and the Echocardiographic Study of Latinos, Echo-SOL. Measures of cardiac structure and function (Table) were compared among Val122Ile carriers and non-carriers using age-and-sex-adjusted least square means (continuous variables) and proportions (categorical variables). Prevalence of pre-HF, identified by the presence of at least one abnormal echocardiographic parameter, was also compared among those with vs. without Val122Ile mutation. Complex survey statistics and sample weights are utilized for all analyses. Results: Val122Ile carriers (0.8%; unweighted n= 40) were younger (mean ±SE, 55.5 years ±1.7), had higher systolic blood pressure (mean ±SE, 130 mmHg ±3.6), but lower body mass index (mean ±SE, 28.5 kg/m 2 ±1.4) than non-carriers, p <0.0001. Lower mean values of left ventricle (LV) ejection fraction, LV end diastolic volume, right ventricle (RV) fractional area change, lateral peak e’ velocity and lower pre-HF prevalence was seen among carriers vs non-carriers. Val122Ile carriers also had higher LV mass, worse concentric remodeling, and worse measures of diastolic function than non-carriers. Most measures of RV function were higher among carriers vs non-carriers (Table) . However, none of the differences found in cardiac phenotype of carriers vs non-carriers were statistically significant (p >0.05). Conclusion: There is a lack of difference in the echocardiographic cardiac phenotype among Hispanic/Latinos who carry the Val122Ile mutation versus non-carriers.