scholarly journals Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis

2021 ◽  
Vol 11 (1) ◽  
pp. 49
Author(s):  
Emily R. Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna T. Braganza ◽  
Amy R. Kontorovich ◽  
Eimear E. Kenny ◽  
...  
Keyword(s):  
Heart Failure ◽  
New York ◽  
Screening Program ◽  
Population Based ◽  
Transthyretin Amyloidosis ◽  
Genomic Screening ◽  
Delays In Diagnosis ◽  
Record Review ◽  
Hereditary Transthyretin Amyloidosis

The TTR V142I variant associated with hereditary transthyretin amyloidosis (hATTR) is present in up to 4% of African American (AA) and 1% of Hispanic/Latinx (HL) individuals and increases risk for heart failure. Delayed and missed diagnoses could potentiate health disparities in these populations. We evaluated whether population-based genomic screening could effectively identify individuals at risk for hATTR and prompt initiation of risk management. We identified participants of the BioMe Biobank in New York City who received TTR V142I results through a pilot genomic screening program. We performed a retrospective medical record review to evaluate for the presence hATTR-related systemic features, uptake of recommended follow-up, and short-term outcomes. Thirty-two AA (N = 17) and HL (N = 15) individuals received a TTR V142I result (median age 57, 81% female). None had a previous diagnosis of hATTR. Eighteen (56%) had hATTR-related systemic features, including 4 (13%) with heart failure, 10 (31%) with carpal tunnel syndrome, and 10 (31%) with spinal stenosis. Eighteen (56%) pursued follow-up with a cardiologist within 8 months. One person received a diagnosis of hATTR. Thus, we found that the majority of V142I-positive individuals had hATTR-related systemic features at the time of result disclosure, including well-described red flags. Genomic screening can help identify hATTR risk and guide management early on, avoiding potential delays in diagnosis and treatment.

Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis

2021 ◽  
Vol 132 ◽  
pp. S348-S349
Author(s):  
Emily Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna Braganza ◽  
Amy Kontorovich ◽  
Eimear Kenny ◽  
...  
Keyword(s):  
High Risk ◽  
Transthyretin Amyloidosis ◽  
Genomic Screening ◽  
Hereditary Transthyretin Amyloidosis

scholarly journals Implementing genomic screening in diverse populations

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Noura S. Abul-Husn ◽  
Emily R. Soper ◽  
Giovanna T. Braganza ◽  
Jessica E. Rodriguez ◽  
Natasha Zeid ◽  
...  
Keyword(s):  
Screening Program ◽  
African Ancestry ◽  
Genomic Medicine ◽  
European Ancestry ◽  
Transthyretin Amyloidosis ◽  
Medicine Research ◽  
Screening Programs ◽  
Genomic Screening ◽  
Genomic Results ◽  
To Receive

Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

P1818Descending aortic thoracic diameter: a risk marker for major adverse cardiovascular outcomes in women

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
O L Rueda Ochoa ◽  
L R Bons ◽  
S Rohde ◽  
K E L Ghoud ◽  
R Budde ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiovascular Risk ◽  
Cardiovascular Mortality ◽  
Total Mortality ◽  
Population Based ◽  
Cardiovascular Outcomes ◽  
Increased Risk ◽  
Almost All

Abstract Background Thoracic aortic diameters have been associated with cardiovascular risk factors and atherosclerosis. However, limited evidence regarding the role of thoracic aortic diameters as risk markers for major cardiovascular outcomes among women and men exist. Purpose To evaluate the independent associations between crude and indexed ascending and descending aortic (AA and DA) diameters with major cardiovascular outcomes among women and men and to provide optimal cutoff values associated with increased cardiovascular risk. Methods and results 2178 women and men ≥55 years from the prospective population-based Rotterdam Study underwent multi-detector CT scan of thorax. Crude diameters of the AA and DA were measured and indexed by height, weight, body surface area (BSA) and body mass index (BMI). Incidence of stroke, coronary heart disease (CHD), heart failure (HF), cardiovascular and all-cause mortality were evaluated during 13 years of follow-up. Weight-, BSA-, or BMI-indexed AA diameters showed significant associations with total or cardiovascular mortality in both sexes and height-indexed values showed association with HF in women. Crude AA diameters were associated with stroke in men and HF in women. For DA, crude and almost all indexed diameters showed significant associations with either stroke, HF, cardiovascular or total mortality in women. Only weight-, BSA- and BMI-indexed values were associated with total mortality in men. For crude DA diameter, the risk for stroke increased significantly at the 75th percentile among men while the risks for HF and cardiovascular mortality increased at the 75th and 85th percentiles respectively in women. Conclusions Our study suggests a role for descending thoracic aortic diameter as a marker for increased cardiovascular risk, in particular for stroke, heart failure and cardiovascular mortality among women. The cut points for increased risk for several of cardiovascular outcomes were below the 95th percentile of the distribution of aortic diameters.

Abstract P027: Fasting Glucose And Risk Of Heart Failure

Circulation ◽  
2014 ◽  
Vol 129 (suppl_1) ◽  
Author(s):  
Hassan Khan ◽  
Setor Kunutsor ◽  
Jussi Kauhanen ◽  
Sudhir Kurl ◽  
Eiran Gorodeski ◽  
...  
Keyword(s):  
Heart Failure ◽  
Prospective Studies ◽  
Fasting Glucose ◽  
Meta Analysis ◽  
Population Based ◽  
Dose Response Relationship ◽  
Increased Risk ◽  
History Of ◽  
Independent Association

Background: There remains uncertainty regarding the association between fasting glucose (FG) and the risk of heart failure (HF) in individuals without a history of diabetes. Methods and Results: We assessed the association between FG and HF risk in a population-based cohort of 1,740 men aged 42-61 years free from HF or diabetes at baseline. Additionally, we performed a meta-analysis of relevant prospective studies identified from MEDLINE, EMBASE, and Web of Science databases. During a mean follow-up of 20.4 years, 146 participants developed HF (4.1 cases per 1000 person-years). In models adjusted for age, the hazard ratio (HR) for HF per 1 mmol/L increase in FG was 1.34 (95% confidence interval [CI], 1.22, 1.48). This association persisted after adjustment for established HF risk factors (HR 1.27, 95% CI 1.14, 1.42). Compared with FG< 5.6 mmol/L, there was an increased risk amongst those with FG 5.6-6.9 mmol/L (HR 1.24, 95% CI 0.82, 1.88) and ≥ 7.0 mmol/L (HR 3.25, 95% CI 1.50, 7.08). HRs remained consistent across several clinical subgroups. In a meta-analysis of 10 prospective studies (Figure 1) involving a total of 4,213 incident HF cases, the HR for HF per 1 mmol/L increase in FG level was 1.11 (95% CI 1.04, 1.17), consistent with a linear dose-response relationship with evidence of heterogeneity between studies (I2=79%, 63-89%; P<0.001). Conclusions: A positive, continuous, and independent association exists between FG and risk for HF. Further studies are needed to evaluate the causal relevance of these findings.

scholarly journals Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry

JAMA ◽  
2019 ◽  
Vol 322 (22) ◽  
pp. 2191 ◽  
Author(s):  
Scott M. Damrauer ◽  
Kumardeep Chaudhary ◽  
Judy H. Cho ◽  
Lusha W. Liang ◽  
Edgar Argulian ◽  
...  
Keyword(s):  
Heart Failure ◽  
Genetic Variant ◽  
Transthyretin Amyloidosis ◽  
Hereditary Transthyretin Amyloidosis

scholarly journals Exercise cardiac power and the risk of heart failure in men: A population-based follow-up study

2020 ◽  
Author(s):  
Sudhir Kurl ◽  
Sae Young Jae ◽  
Timo H. Mäkikallio ◽  
Ari Voutilainen ◽  
Magnus J. Hagnäs ◽  
...  
Keyword(s):  
Heart Failure ◽  
Population Based ◽  
Follow Up Study ◽  
Cardiac Power

scholarly journals Cardiorespiratory fitness and risk of heart failure: a population-based follow-up study

2013 ◽  
Vol 16 (2) ◽  
pp. 180-188 ◽  
Author(s):  
Hassan Khan ◽  
Setor Kunutsor ◽  
Rainer Rauramaa ◽  
Kai Savonen ◽  
Andreas P. Kalogeropoulos ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiorespiratory Fitness ◽  
Population Based ◽  
Follow Up Study

scholarly journals Effects of Oral Amino Acid Supplements on Functional Capacity in Patients with Chronic Heart Failure

2014 ◽  
Vol 8 ◽  
pp. CMC.S14016 ◽  
Author(s):  
Carlo Lombardi ◽  
Valentina Carubelli ◽  
Valentina Lazzarini ◽  
Enrico Vizzardi ◽  
Filippo Quinzani ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Heart Failure ◽  
New York ◽  
Functional Capacity ◽  
Exercise Tolerance ◽  
Stress Test ◽  
Nyha Class ◽  
Heart Association

Amino acids (AAs) availability is reduced in patients with heart failure (HF) leading to abnormalities in cardiac and skeletal muscle metabolism, and eventually to a reduction in functional capacity and quality of life. In this study, we investigate the effects of oral supplementation with essential and semi-essential AAs for three months in patients with stable chronic HF. The primary endpoints were the effects of AA's supplementation on exercise tolerance (evaluated by cardiopulmonary stress test and six minutes walking test (6MWT)), whether the secondary endpoints were change in quality of life (evaluated by Minnesota Living with Heart Failure Questionnaire—MLHFQJ and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels. We enrolled 13 patients with chronic stable HF on optimal therapy, symptomatic in New York Heart Association (NYHA) class II/III, with an ejection fraction (EF) <45%. The mean age was 59 ± 14 years, and 11 (84.6%) patients were male. After three months, peak VO2 (baseline 14.8 ± 3.9 mL/minute/kg vs follow-up 16.8 ± 5.1 mL/minute/kg; P = 0.008) and VO2 at anaerobic threshold improved significantly (baseline 9.0 ± 3.8 mL/minute/kg vs follow-up 12.4 ± 3.9 mL/minute/kg; P = 0.002), as the 6MWT distance (baseline 439.1 ± 64.3 m vs follow-up 474.2 ± 89.0 m; P = 0.006). However, the quality of life did not change significantly (baseline 21 ± 14 vs follow-up 25 ± 13; P = 0.321). A non-significant trend in the reduction of NT-proBNP levels was observed (baseline 1502 ± 1900 ng/L vs follow-up 1040 ± 1345 ng/L; P = 0.052). AAs treatment resulted safe and was well tolerated by all patients. In our study, AAs supplementation in patients with chronic HF improved exercise tolerance but did not change quality of life.

scholarly journals Outcome in juvenile idiopathic arthritis: a population-based study from Sweden

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Elisabet Berthold ◽  
Bengt Månsson ◽  
Robin Kahn
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Disease Activity ◽  
Orthopedic Surgery ◽  
Population Based ◽  
Annual Incidence ◽  
Common Disease ◽  
Necrosis Factor Alpha ◽  
Systemic Jia ◽  
Record Review

Abstract Background As the treatment arsenal for children with juvenile idiopathic arthritis (JIA) has expanded during the last decades, follow-up studies are needed on children diagnosed in the era of biological treatment to evaluate if this has improved the outcome. Our aim was to study the epidemiology and outcome of JIA in southern Sweden using a population-based cohort of children with a validated diagnosis of JIA collected over 9 years. Methods Potential cases of JIA between 2002 and 2010 were collected after a database search, using the ICD codes M08-M09. The study area was Skåne, the southernmost county of Sweden (population 1.24 million; 17.6% aged < 16 years). The JIA diagnosis was validated and subcategorized through medical record review based on the criteria defined by the International League of Associations for Rheumatism (ILAR). Parameters on disease activity and pharmacologic treatment were recorded annually until the end of the study period (December 31, 2015). Results In total, 251 cases of JIA were confirmed. The mean annual incidence rate for JIA was estimated to be 12.8/100,000 children < 16 years, with the highest age-specific annual incidence at the age of 2 years (36/100,000). Oligoarthritis was the largest subgroup (44.7%), and systemic JIA was the smallest subgroup (2.8%). Methotrexate was the most common disease-modifying anti-rheumatic drug prescribed (60.6%). Tumor necrosis factor alpha inhibitors were used as treatment for 23.9% of the children. Only 40.0% of the follow-up years, with a median follow-up time of 8 years, were free of arthritis or uveitis. Uveitis occurred in 10.8% of the children (8.0% chronic uveitis), and the need for joint corrective orthopedic surgery was 9.2%. Conclusions The incidence of JIA in this well-defined, population-based cohort is slightly lower than in previously published studies from Scandinavia. The need for orthopedic surgery and the presence of uveitis are diminished compared to studies with patients diagnosed more than 20 years ago. Children with JIA however still experience disease activity more than 50% of the time. In conclusion, we still have long-term challenges in the care for children with JIA, in spite of state-of-the-art treatment.

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