158 Racial differences in val122Ile associated transthyretin cardiac amyloidosis. (8th December 2021)

• Record Type: Journal Article
• Authors: Argirò, Alessia; Zampieri, Mattia; Batra, Jaya; Rosenblum, Hannah; Burkhoff, Daniel; Maurer, Mathew; Olivotto, Iacopo; Cappelli, Francesco
• Is Part Of: European heart journal supplements. Volume 23(2021)Supplement G
• Publication Date: 2021-12-08
• Subjects: Cardiology -- Periodicals; Cardiology -- Europe -- Periodicals; 616.12005
• DOI: 10.1093/eurheartj/suab142.003
• Languages: English
• ISSNs: 1520-765X

Abstract

Abstract: Aims: The valine-to-isoleucine substitution (Val122Ile) is the most common variant of transthyretin (TTR) amyloidosis in the USA, primarily affecting individuals of African descent and leading to a restrictive cardiomyopathy. This variant has recently been identified in a cluster of White individuals in Italy. In this study we aimed to investigate differences in the clinical phenotype of Val122Ile associated TTR cardiac amyloidosis (ATTR-CA) between Black and White individuals. Methods and results: In this retrospective study of 70 patients (mean age 72 years) with Val122Ile associated TTR ATTR-CA, cardiac chamber performance was compared using noninvasive pressure-volume analysis. Compared to White patients ( n = 17), Black individuals ( n = 53) had lower systolic blood pressures (110 vs. 131 mmHg, P < 0.001), reduced pulse pressures (41 vs. 58 mmHg, P < 0.001), and impaired renal function (eGFR 46 vs. 67 mL/min/1.73 m 2, P < 0.001) at presentation. Systolic properties and arterial elastance were similar. Black patients had an end-diastolic pressure-volume relationship shifted upward and leftward relative to White patients, indicating reduced left ventricular chamber capacitance. Pressure-volume area at a left ventricular end-diastolic pressure of 30 mmHg was lower in Black compared to White individuals (8055 mmHg*ml vs. 11 538 mmHg*ml, P = 0.008). Conclusions: Despite presenting at a similar age to White patients, Black individuals with Val122Ile associated ATTR-CA have a greater degree of cardiac chamber dysfunction at the time of diagnosis due to impaired ventricular capacitance. Whether these differences are attributable to amyloidosis or other cardiovascular disease requires further study.