scholarly journals 158 Racial differences in val122Ile associated transthyretin cardiac amyloidosis

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Alessia Argirò ◽  
Mattia Zampieri ◽  
Jaya Batra ◽  
Hannah Rosenblum ◽  
Daniel Burkhoff ◽  
...  

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 m2, 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.

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Jaya Batra ◽  
iacopo olivotto ◽  
Mathew S Maurer

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.


2019 ◽  
Vol 214 ◽  
pp. 46-53
Author(s):  
Lonnie T. Sullivan ◽  
Hillary Mulder ◽  
Karen Chiswell ◽  
Linda K. Shaw ◽  
Tracy Y. Wang ◽  
...  

1993 ◽  
Vol 6 (10) ◽  
pp. 815-823 ◽  
Author(s):  
Michael J. Koren ◽  
George A. Mensah ◽  
James Blake ◽  
John H. Laragh ◽  
Richard B. Devereux

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
C B Binder ◽  
F Duca ◽  
S Aschauer ◽  
R Rettl ◽  
L Camuz Ligios ◽  
...  

Abstract Background Apical sparing describes a reduced longitudinal strain in the basal segments and preserved or supranormal longitudinal strain in the apical segments of the left ventricular (LV) myocardium. This pattern has been described as a typical finding in patients with cardiac amyloidosis (CA) and restrictive cardiomyopathy. However, apical sparing is not a quantitative parameter and is fairly subjective to the echocardiographer's judgement. It is not known, if a certain degree of apical sparing is also present in patients with only mild LV hypertrophy and diastolic dysfunction such as it is present in heart failure with preserved ejection fraction (HFpEF). Methods Patients with cardiac transthyretin and light chain amyloidosis and patients with HFpEF were included in a clinical registry at our outpatient clinic. CA was diagnosed according to current guidelines. All patients underwent a comprehensive transthoracic echocardiography (TTE) exam at the time of study inclusion. The TTE protocol included standard and speckle-tracking imaging to assess the presence of apical sparing as well as the basal to apical strain gradient. Patients with known coronary artery disease were excluded. Results In total 115 patients were included in this study. Of these, 87 (75.7%) were diagnosed with CA and 28 (24.3%) with HFpEF. Not surprisingly, apical sparing was found in a majority (86.2%) of patients with CA, however mild forms of this phenomenon were also present in 67.9% of patients with HFpEF (p=0.029, Figure 1). Median basal longitudinal strain was significantly more impaired in patients with CA (p<0.001) but there was no difference between longitudinal strain in the apical segments when comparing CA to HFpEF (p=0.443). This resulted in a higher median apical to basal strain gradient in patients with CA (2.3 (IQR 1.7–3.83) versus 1.13 (IQR 1.5–1.8), p<0.001). Figure 1 Conclusion Mild forms of apical sparing can be found in patients without CA. Gradual reduction in strain from base to apex could be an unspecific pathophysiologic mechanism which is remarkably pronounced in patients with CA.


2017 ◽  
Vol 145 ◽  
pp. 11-12
Author(s):  
E.A. Dubil ◽  
C. Tian ◽  
G. Wang ◽  
N.W. Bateman ◽  
D.A. Levine ◽  
...  

2012 ◽  
Vol 17 (6) ◽  
pp. 381-384 ◽  
Author(s):  
Kimberley A Kaseweter ◽  
Brian B Drwecki ◽  
Kenneth M Prkachin

BACKGROUND: Evidence of inadequate pain treatment as a result of patient race has been extensively documented, yet remains poorly understood. Previous research has indicated that nonwhite patients are significantly more likely to be undertreated for pain.OBJECTIVE: To determine whether previous findings of racial biases in pain treatment recommendations and empathy are generalizable to a sample of Canadian observers and, if so, to determine whether empathy biases mediate the pain treatment disparity.METHODS: Fifty Canadian undergraduate students (24 men and 26 women) watched videos of black and white patients exhibiting facial expressions of pain. Participants provided pain treatment decisions and reported their feelings of empathy for each patient.RESULTS: Participants demonstrated both a prowhite treatment bias and a prowhite empathy bias, reporting more empathy for white patients than black patients and prescribing more pain treatment for white patients than black patients. Empathy was found to mediate the effect of race on pain treatment.CONCLUSIONS: The results of the present study closely replicate those from a previous study of American observers, providing evidence that a prowhite bias is not a peculiar feature of the American population. These results also add support to the claim that empathy plays a crucial role in racial pain treatment disparity.


Classification 418Dilated cardiomyopathy 420Dilated cardiomyopathy: treatment 422Hypertrophic cardiomyopathy 424Hypertrophic cardiomyopathy: investigations 428Hypertrophic cardiomyopathy: treatment 430Restrictive cardiomyopathy 432Cardiac amyloidosis 434Cardiac amyloidosis: treatment 436Fabry disease 438Arrhythmogenic right ventricular cardiomyopathy (ARVC) 440ARVC: management 442Left ventricular non-compaction ...


2003 ◽  
Vol 13 (5) ◽  
pp. 469-471 ◽  
Author(s):  
Przemysław Palka ◽  
Aleksandra Lange ◽  
Cameron Ward

We describe the clinical features of idiopathic restrictive cardiomyopathy in a female infant. A marked elevation of left ventricular end-diastolic pressure, and profoundly abnormal myocardial relaxation, were detected with the use of Doppler blood flow echocardiography, coupled with the relatively new technique of Doppler tissue echocardiography. There was no clinical evidence of ongoing heart failure, but she had signs of myocardial ischaemia, and unfortunately died suddenly at the age of 13 months.


2009 ◽  
Vol 27 (25) ◽  
pp. 4109-4115 ◽  
Author(s):  
Hanna K. Sanoff ◽  
Daniel J. Sargent ◽  
Erin M. Green ◽  
Howard L. McLeod ◽  
Richard M. Goldberg

Purpose Racial disparities in colorectal cancer (CRC) survival are documented, but there are few data on comparative response to chemotherapy. A subgroup analysis of a multisite National Cancer Institute–sponsored trial (N9741) was performed comparing outcomes of black and white patients with metastatic CRC receiving uniform treatment. Patients and Methods Adverse events (AEs), response rate (RR), time to progression (TTP), overall survival (OS), and dose-intensity were examined as a function of self-reported race in 1,412 patients treated with irinotecan/fluorouracil, fluorouracil/oxaliplatin, or irinotecan/oxaliplatin. Pharmacogenetic analysis was performed on 486 patients with blood available for germline DNA analysis. Results OS was 1.5 months shorter and TTP was 0.6 months shorter in black than white patients (OS: hazard ratio [HR] = 1.13; 95% CI, 0.90 to 1.42; TTP: HR = 0.91, 95% CI, 0.73 to 1.13); neither difference was statistically significant. RR was significantly higher in whites (41%) than blacks (28%; P = .008). Grade 3 or greater AEs were also higher in whites (48%) than blacks (34%; P = .004). These relationships were maintained in multivariate models adjusting for arm, age, sex, and performance status. There was no difference in dose-intensity of delivered therapy. Significant racial differences in prevalence of pharmacogenetic variants were observed, although small sample size precluded investigating the relationship between treatment, race, and genotype. Conclusion OS and TTP are similar in black and white patients treated per protocol with standardized therapy for metastatic CRC. However, RR and AEs vary considerably by race. The marked racial differences in relevant pharmacogenetics, a potential explanation for differing RR and AEs, are worthy of future study.


2016 ◽  
Vol 34 (22) ◽  
pp. 2610-2618 ◽  
Author(s):  
Anne Marie McCarthy ◽  
Mirar Bristol ◽  
Susan M. Domchek ◽  
Peter W. Groeneveld ◽  
Younji Kim ◽  
...  

Purpose Racial disparities in BRCA1/2 testing have been documented, but causes of these disparities are poorly understood. The study objective was to investigate whether the distribution of black and white patients across cancer providers contributes to disparities in BRCA1/2 testing. Patients and Methods We conducted a population-based study of women in Pennsylvania and Florida who were 18 to 64 years old and diagnosed with invasive breast cancer between 2007 and 2009, linking cancer registry data, the American Medical Association Physician Masterfile, and patient and physician surveys. The study included 3,016 women (69% white, 31% black), 808 medical oncologists, and 732 surgeons. Results Black women were less likely to undergo BRCA1/2 testing than white women (odds ratio [OR], 0.40; 95% CI, 0.34 to 0.48; P < .001). This difference was attenuated but not eliminated by adjustment for mutation risk, clinical factors, sociodemographic characteristics, and attitudes about testing (OR, 0.66; 95% CI, 0.53 to 0.81; P < .001). The care of black and white women was highly segregated across surgeons and oncologists (index of dissimilarity 64.1 and 61.9, respectively), but adjusting for clustering within physician or physician characteristics did not change the size of the testing disparity. Black women were less likely to report that they had received physician recommendation for BRCA1/2 testing even after adjusting for mutation risk (OR, 0.66; 95% CI, 0.54 to 0.82; P < .001). Adjusting for physician recommendation further attenuated the testing disparity (OR, 0.76; 95% CI, 0.57 to 1.02; P = .06). Conclusion Although black and white patients with breast cancer tend to see different surgeons and oncologists, this distribution does not contribute to disparities in BRCA1/2 testing. Instead, residual racial differences in testing after accounting for patient and physician characteristics are largely attributable to differences in physician recommendations. Efforts to address these disparities should focus on ensuring equity in testing recommendations.


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