Background:
Transthyretin cardiac amyloidosis (ATTR-CA) is the leading cause of restrictive cardiomyopathy in older adults. The valine-to-isoleucine substitution (Val122Ile) is the most common inherited variant in the U.S., primarily affecting patients of Afro-Caribbean descent. This variant has also been identified in white individuals in Northern Italy who present with a similar disease phenotype. It is unknown whether there are between-race differences in cardiac chamber function at diagnosis of Val122Ile associated ATTR-CA.
Methods:
In this retrospective study of 70 patients from two amyloid centers with Val122Ile associated ATTR-CA diagnosed over two decades, clinical and echocardiographic features at diagnosis were compared between races. Cardiac chamber performance was compared using noninvasive, single beat pressure-volume analysis.
Results:
Average age at diagnosis was 72 years. Compared to white patients (n=17), black individuals (n=53) had lower systolic blood pressure (110 vs. 131 mmHg , p<0.001), reduced pulse pressure (41 vs. 58 mmHg, p<0.001), and impaired renal function (eGFR 46 vs. 67 mL/min/1.73m
2
, p<0.001) at the time of diagnosis. End-systolic pressure-volume relationship (2.3 vs. 1.9 mmHg/mL, p = 0.88), and arterial elastance (3.0 vs. 3.0 mmHg/mL, p = 1.0) were similar between groups (Panel A). Black patients had an end-diastolic pressure-volume relationship shifted upward and leftward relative to white patients, indicating reduced left ventricular capacity. Accordingly, pressure-volume area at a left ventricular end-diastolic pressure of 30 mmHg was lower in black compared to white individuals (8,415 vs. 11,538 mmHg*mL, p = 0.012, Panel B).
Conclusion:
Despite presenting at a similar age to white patients, black individuals with Val122Ile associated ATTR-CA have a greater degree of cardiac remodeling which drives reduced overall chamber function. These findings suggest a more aggressive disease phenotype.
158 Racial differences in val122Ile associated transthyretin cardiac amyloidosis