Background: The valine-to-isoleucine substitution (Val122Ile) is the most common variant of transthyretin (TTR) amyloidosis in the United States, affecting primarily individuals of African descent. This variant has been identified recently in a cluster of white individuals in Italy.Methods and Results: Clinical phenotype and chamber performance of Black and white individuals with Val122Ile TTR cardiac amyloidosis (ATTR-CA) were compared. Compared to white patients (n = 17), Black individuals (n = 53) had lower systolic blood pressures (110 vs 131 mmHg, <0.001), reduced pulse pressures (41 vs 58 mmHg; P < 0.001), and impaired renal function (eGFR 46 vs 67 mL/min/1.73m2; P < 0.001) at presentation. Systolic properties and arterial elastance were similar. Black patients had end-diastolic pressure-volume relationships that were shifted upward and leftward relative to those of 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 than in white individuals (8055 mmHg/mL vs 11,538 mmHg/mL; P = 0.008).Conclusion: Despite presenting at ages similar to those of white patients, Black individuals with Val122Ile-associated ATTR-CA had 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.

Racial Differences in Val122Ile-Associated Transthyretin Cardiac Amyloidosis / Batra, Jaya; Rosenblum, Hannah; Cappelli, Francesco; Zampieri, Mattia; Olivotto, Iacopo; Griffin, Jan M; Saith, Sunil E; Teruya, Sergio; De Los Santos, Jeffeny; Argiro, Alessia; Burkhoff, Daniel; Perfetto, Federico; Maurer, Mathew S. - In: JOURNAL OF CARDIAC FAILURE. - ISSN 1071-9164. - STAMPA. - 28:(2022), pp. 950-959. [10.1016/j.cardfail.2021.12.016]

Racial Differences in Val122Ile-Associated Transthyretin Cardiac Amyloidosis

Cappelli, Francesco;Zampieri, Mattia;Olivotto, Iacopo;Argiro, Alessia;Perfetto, Federico;
2022

Abstract

Background: The valine-to-isoleucine substitution (Val122Ile) is the most common variant of transthyretin (TTR) amyloidosis in the United States, affecting primarily individuals of African descent. This variant has been identified recently in a cluster of white individuals in Italy.Methods and Results: Clinical phenotype and chamber performance of Black and white individuals with Val122Ile TTR cardiac amyloidosis (ATTR-CA) were compared. Compared to white patients (n = 17), Black individuals (n = 53) had lower systolic blood pressures (110 vs 131 mmHg, <0.001), reduced pulse pressures (41 vs 58 mmHg; P < 0.001), and impaired renal function (eGFR 46 vs 67 mL/min/1.73m2; P < 0.001) at presentation. Systolic properties and arterial elastance were similar. Black patients had end-diastolic pressure-volume relationships that were shifted upward and leftward relative to those of 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 than in white individuals (8055 mmHg/mL vs 11,538 mmHg/mL; P = 0.008).Conclusion: Despite presenting at ages similar to those of white patients, Black individuals with Val122Ile-associated ATTR-CA had 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.
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Batra, Jaya; Rosenblum, Hannah; Cappelli, Francesco; Zampieri, Mattia; Olivotto, Iacopo; Griffin, Jan M; Saith, Sunil E; Teruya, Sergio; De Los Santos, Jeffeny; Argiro, Alessia; Burkhoff, Daniel; Perfetto, Federico; Maurer, Mathew S
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1291331
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