scholarly journals Darier disease is associated with heart failure: a cross-sectional case-control and population based study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Etty Bachar-Wikstrom ◽  
Philip Curman ◽  
Tara Ahanian ◽  
Ivone U. S. Leong ◽  
Henrik Larsson ◽  
...  
Keyword(s):  
Heart Failure ◽  
Heart Disease ◽  
Er Stress ◽  
Population Based ◽  
Case Control ◽  
Gene Encoding ◽  
Cross Sectional ◽  
Darier Disease ◽  
Increased Risk ◽  
Matched Comparison

AbstractHuman data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in heart disease is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the ATP2A2 gene encoding the sarcoendoplasmic-reticulum Ca2+ ATPase isoform 2 (SERCA2), which causes calcium dyshomeostasis and ER stress. We hypothesized that DD patients would have an increased risk for common heart disease. We performed a cross-sectional case-control clinical study on 25 DD patients and 25 matched controls; and a population-based cohort study on 935 subjects with DD and matched comparison subjects. Main outcomes and measures were N-terminal pro-brain natriuretic peptide, ECG and heart diagnosis (myocardial infarction, heart failure and arrythmia). DD subjects showed normal clinical heart phenotype including heart failure markers and ECG. The risk for heart failure was 1.59 (1,16-2,19) times elevated in DD subjects, while no major differences were found in myocardial infarcation or arrhythmias. Risk for heart failure when corrected for cardivascular risk factors or alcohol misuse was 1.53 (1.11–2.11) and 1.58 (1,15–2,18) respectively. Notably, heart failure occurred several years earlier in DD patients as compared to controls. We conclude that DD patients show a disease specific increased risk of heart failure which should be taken into account in patient management. The observation also strenghtens the clinical evidence on the important role of SERCA2 in heart failure pathophysiology.

scholarly journals Association Between Age‐Related Macular Degeneration and Risk of Heart Failure: A Population‐Based Nested Case‐Control Study

2021 ◽  
Author(s):  
Chao‐Chien Chang ◽  
Chi‐Hung Huang ◽  
Yu‐Ching Chou ◽  
Jin‐Yin Chang ◽  
Chien‐An Sun
Keyword(s):  
Heart Failure ◽  
Macular Degeneration ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Increased Risk ◽  
Nested Case Control ◽  
Control Study

Background Heart failure (HF) is a major health problem worldwide because of its high morbidity and mortality. Recently, the role of the microvasculature in HF has gained more attention. Age‐related macular degeneration (AMD) is manifested through geographic atrophy or the development of neovascularization. However, there are limited data on investigations about the association between AMD and HF. The purpose of this study was to examine the association of AMD with the risk of HF in a large population‐based cohort of men and women. Methods and Results A nested case‐control study using Taiwan’s National Health Insurance Research Database was conducted between 2000 and 2012. Newly diagnosed heart failure cases (n=13 721) and matched controls (n=54 884) in the database were recruited. Patients who had ≥2 clinical visits with a diagnosis of AMD at least 1 year before the diagnosis of HF were identified as patients with AMD. Conditional logistic regressions were performed to calculate odds ratios and 95% CIs to assess the association between AMD and risk of HF. AMD was associated with a 1.58‐fold increased risk of HF (95% CI, 1.16–1.87) ( P <0.001) after adjustment for potential confounders. This significant association was evident in both nonexudative and exudative AMD subgroups. Conclusions Our study provides evidence that AMD was associated with an increased risk of HF. Further molecular and pathophysiological studies are needed to clarify the underlying pathophysiological mechanisms behind the association of AMD with HF.

scholarly journals SERCA2 Haploinsufficiency in a Mouse Model of Darier Disease Causes a Selective Predisposition to Heart Failure

2015 ◽  
Vol 2015 ◽  
pp. 1-21 ◽  
Author(s):  
Vikram Prasad ◽  
John N. Lorenz ◽  
Valerie M. Lasko ◽  
Michelle L. Nieman ◽  
Wei Huang ◽  
...  
Keyword(s):  
Heart Failure ◽  
Heart Disease ◽  
Important Determinant ◽  
Rapid Onset ◽  
Skin Condition ◽  
Cardiac Physiology ◽  
Gene Encoding ◽  
Cardiac Effects ◽  
Transgenic Model ◽  
Darier Disease

Null mutations in one copy ofATP2A2, the gene encoding sarco/endoplasmic reticulum Ca2+-ATPase isoform 2 (SERCA2), cause Darier disease in humans, a skin condition involving keratinocytes. Cardiac function appears to be unimpaired in Darier disease patients, with no evidence that SERCA2 haploinsufficiency itself causes heart disease. However, SERCA2 deficiency is widely considered a contributing factor in heart failure. We therefore analyzedAtp2a2heterozygous mice to determine whether SERCA2 haploinsufficiency can exacerbate specific heart disease conditions. Despite reduced SERCA2a levels in heart,Atp2a2heterozygous mice resembled humans in exhibiting normal cardiac physiology. When subjected to hypothyroidism or crossed with a transgenic model of reduced myofibrillar Ca2+-sensitivity, SERCA2 deficiency caused no enhancement of the disease state. However, when combined with a transgenic model of increased myofibrillar Ca2+-sensitivity, SERCA2 haploinsufficiency caused rapid onset of hypertrophy, decompensation, and death. These effects were associated with reduced expression of the antiapoptoticHax1, increased levels of the proapoptotic genesChopandCasp12, and evidence of perturbations in energy metabolism. These data reveal myofibrillar Ca2+-sensitivity to be an important determinant of the cardiac effects of SERCA2 haploinsufficiency and raise the possibility that Darier disease patients are more susceptible to heart failure under certain conditions.

scholarly journals Pergolide Associated Cardiac Valvulopathy Based on Ontario Administrative Data

2008 ◽  
Vol 35 (2) ◽  
pp. 173-178 ◽  
Author(s):  
Cindy Zadikoff ◽  
Minh Duong-Hua ◽  
Kathy Sykora ◽  
Connie Marras ◽  
Anthony Lang ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Heart Disease ◽  
Valvular Heart Disease ◽  
Hospital Admissions ◽  
Population Based ◽  
Hazard Ratio ◽  
Exposure Effect ◽  
Increased Risk ◽  
Secondary Objective

Introduction:Pergolide is an ergot derived dopamine agonist that is widely used for the treatment of Parkinson’s disease. Studies have found an association between pergolide and valvular heart abnormalities although there is still much to be learned about the clinical significance of the valvular changes, who is at risk, and whether there is duration of exposure effect.Objective:To assess the long term risk of hospital admissions for valvular heart disease (VHD) or congestive heart failure (CHF, a clinically overt outcome of VHD) in new users of pergolide compared to new users of levodopa. The secondary objective was to assess whether there are any characteristics that can predict who is at higher risk of developing this outcome.Design:Retrospective, population-based cohort study.Setting:Ontario, Canada.Subjects:Ontario residents aged 66 and older, newly started on treatment with either pergolide or levodopa.Outcomes:Admission to hospital with the most responsible diagnosis of congestive heart failure or valvular heart disease.Results:The risk for admission for valvular heart disease or congestive heart failure were higher in those with 1-4 years exposure to pergolide compared with no exposure to pergolide (VHD: hazard ratio 2.4, p = 0.04; CHF: hazard ratio 1.6, p =0.02). No such pattern was found with exposure to levodopa.Conclusion:Our study demonstrates that treatment with pergolide is associated with a higher risk of hospital admission for valvular heart disease or congestive heart failure and that this risk is greater in those with 1-4 years exposure than in those with less exposure. We did not find an increased risk beyond four years.

scholarly journals Cardio-metabolic outcomes in South Asians compared to White Europeans in the United Kingdom: a matched controlled population-based cohort study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Munerah Almulhem ◽  
Joht Singh Chandan ◽  
Krishna Gokhale ◽  
Nicola J. Adderley ◽  
Rasiah Thayakaran ◽  
...  
Keyword(s):  
Heart Failure ◽  
Metabolic Disease ◽  
Atrial Fibrillation ◽  
Heart Disease ◽  
Metabolic Diseases ◽  
South Asians ◽  
Population Based ◽  
Health Improvement ◽  
The United Kingdom ◽  
Increased Risk

Abstract Background There appears to be an inequality in the risk of cardio-metabolic disease between those from a South Asian (SA) background when compared to those of White Europeans (WE) descendance, however, this association has not been explored in a large European cohort. This population-based open retrospective cohort explores the incidence of cardio-metabolic disease in those without pre-existing cardiometabolic disease taken from a large UK primary care database from 1st January 2007 to 31st December 2017. Methods A retrospective open cohort matched population-based study using The Health Improvement Network (THIN) database. The outcomes of this study were the incidences of cardio-metabolic events (type 2 diabetes mellitus, hypertension, ischemic heart disease, stroke, heart failure, and atrial fibrillation). Results A total of 94,870 SA patients were matched with 189,740 WE patients. SA were at an increased risk of developing: T2DM (adjusted hazard ratio (aHR) 3.1; 95% CI 2.97–3.23); HTN (1.34; 95% CI: 1.29–1.39); ischaemic heart disease (IHD) (1.81; 95% CI: 1.68–1.93) and heart failure (HF) (1.11; 95% CI: 1.003–1.24). However, they were at a lower risk of atrial fibrillation (AF) (0.53; 95% CI: 0.48–0.59) when compared to WE. Of those of SA origin, the Bangladeshi community were at the greatest risk of T2DM, HTN, IHD and HF, but were at the lowest risk of AF in when compared to Indians and Pakistanis. Conclusion Considering the high risk of cardio-metabolic diseases in the SA cohort, differential public health measures should be considered in these patients to reduce their risk of disease, which may be furthered tailored depending on their country of origin.

scholarly journals Incidence of atrial fibrillation, ischaemic heart disease and heart failure in patients with diabetes

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Amy Groenewegen ◽  
Victor W. Zwartkruis ◽  
Betül Cekic ◽  
Rudolf. A. de Boer ◽  
Michiel Rienstra ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Heart Disease ◽  
Ischaemic Heart Disease ◽  
Incidence Rate ◽  
Diabetes Status ◽  
Increased Risk ◽  
Patients With Diabetes ◽  
Rate Ratios ◽  
Age And Sex

Abstract Background Diabetes has strongly been linked to atrial fibrillation, ischaemic heart disease and heart failure. The epidemiology of these cardiovascular diseases is changing, however, due to changes in prevalence of obesity-related conditions and preventive measures. Recent population studies on incidence of atrial fibrillation, ischaemic heart disease and heart failure in patients with diabetes are needed. Methods A dynamic longitudinal cohort study was performed using primary care databases of the Julius General Practitioners’ Network. Diabetes status was determined at baseline (1 January 2014 or upon entering the cohort) and participants were followed-up for atrial fibrillation, ischaemic heart disease and heart failure until 1 February 2019. Age and sex-specific incidence and incidence rate ratios were calculated. Results Mean follow-up was 4.2 years, 12,168 patients were included in the diabetes group, and 130,143 individuals in the background group. Incidence rate ratios, adjusted for age and sex, were 1.17 (95% confidence interval 1.06–1.30) for atrial fibrillation, 1.66 (1.55–1.83) for ischaemic heart disease, and 2.36 (2.10–2.64) for heart failure. Overall, incidence rate ratios were highest in the younger age categories, converging thereafter. Conclusion There is a clear association between diabetes and incidence of the major chronic progressive heart diseases, notably with heart failure with a more than twice increased risk.

scholarly journals Joint association between education and polygenic risk score for incident coronary heart disease events: a longitudinal population-based study of 26 203 men and women

2021 ◽  
pp. jech-2020-214358
Author(s):  
Pekka Martikainen ◽  
Kaarina Korhonen ◽  
Aline Jelenkovic ◽  
Hannu Lahtinen ◽  
Aki Havulinna ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Risk Score ◽  
Density Lipoprotein ◽  
Population Based ◽  
Polygenic Risk Score ◽  
Genome Wide ◽  
Increased Risk ◽  
Region Of Residence

BackgroundGenetic vulnerability to coronary heart disease (CHD) is well established, but little is known whether these effects are mediated or modified by equally well-established social determinants of CHD. We estimate the joint associations of the polygenetic risk score (PRS) for CHD and education on CHD events.MethodsThe data are from the 1992, 1997, 2002, 2007 and 2012 surveys of the population-based FINRISK Study including measures of social, behavioural and metabolic factors and genome-wide genotypes (N=26 203). Follow-up of fatal and non-fatal incident CHD events (N=2063) was based on nationwide registers.ResultsAllowing for age, sex, study year, region of residence, study batch and principal components, those in the highest quartile of PRS for CHD had strongly increased risk of CHD events compared with the lowest quartile (HR=2.26; 95% CI: 1.97 to 2.59); associations were also observed for low education (HR=1.58; 95% CI: 1.32 to 1.89). These effects were largely independent of each other. Adjustment for baseline smoking, alcohol use, body mass index, igh-density lipoprotein (HDL) and total cholesterol, blood pressure and diabetes attenuated the PRS associations by 10% and the education associations by 50%. We do not find strong evidence of interactions between PRS and education.ConclusionsPRS and education predict CHD events, and these associations are independent of each other. Both can improve CHD prediction beyond behavioural risks. The results imply that observational studies that do not have information on genetic risk factors for CHD do not provide confounded estimates for the association between education and CHD.

scholarly journals Cross sectional study estimating prevalence of heart failure and left ventricular systolic dysfunction in community patients at risk

Heart ◽  
2001 ◽  
Vol 86 (2) ◽  
pp. 172-178 ◽  
Author(s):  
O W Nielsen ◽  
J Hilden ◽  
C T Larsen ◽  
J F Hansen
Keyword(s):  
Heart Failure ◽  
Primary Care ◽  
General Practice ◽  
Heart Disease ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Ventricular Systolic Dysfunction ◽  
Cross Sectional ◽  
General Practices

OBJECTIVETo examine a general practice population to measure the prevalence of signs and symptoms of heart failure (SSHF) and left ventricular systolic dysfunction (LVSD).DESIGNCross sectional screening study in three general practices followed by echocardiography.SETTING AND PATIENTSAll patients ⩾ 50 years in two general practices and ⩾ 40 years in one general practice were screened by case record reviews and questionnaires (n = 2158), to identify subjects with some evidence of heart disease. Among these, subjects were sought who had SSHF (n = 115). Of 357 subjects with evidence of heart disease, 252 were eligible for examination, and 126 underwent further cardiological assessment, including 43 with SSHF.MAIN OUTCOME MEASURESPrevalence of SSHF as defined by a modified Boston index, LVSD defined as an indirectly measured left ventricular ejection fraction ⩽ 0.45, and numbers of subjects needing an echocardiogram to detect one case with LVSD.RESULTSSSHF afflicted 0.5% of quadragenarians and rose to 11.7% of octogenarians. Two thirds were handled in primary care only. At ⩾ 50 years of age 6.4% had SSHF, 2.9% had LVSD, and 1.9% (95% confidence interval 1.3% to 2.5%) had both. To detect one case with LVSD in primary care, 14 patients with evidence of heart disease without SSHF and 5.5 patients with SSHF had to be examined.CONCLUSIONSSHF is extremely prevalent in the community, especially in primary care, but more than two thirds do not have LVSD. The number of subjects with some evidence of heart disease needing an echocardiogram to detect one case of LVSD is 14.

scholarly journals Adjuvant Hormonotherapy and Cardiovascular Risk in Post-Menopausal Women with Breast Cancer: A Large Population-Based Cohort Study

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2254
Author(s):  
Matteo Franchi ◽  
Roberta Tritto ◽  
Luigi Tarantini ◽  
Alessandro Navazio ◽  
Giovanni Corrao
Keyword(s):  
Breast Cancer ◽  
Heart Failure ◽  
Adjuvant Therapy ◽  
Large Population ◽  
Positive Association ◽  
Population Based ◽  
Study Cohort ◽  
Increased Risk ◽  
Post Menopausal ◽  
New Diagnosis

Background: Whether aromatase inhibitors (AIs) increase the risk of cardiovascular (CV) events, compared to tamoxifen, in women with breast cancer is still debated. We evaluated the association between AI and CV outcomes in a large population-based cohort of breast cancer women. Methods: By using healthcare utilization databases of Lombardy (Italy), we identified women ≥50 years, with new diagnosis of breast cancer between 2009 and 2015, who started adjuvant therapy with either AI or tamoxifen. We estimated the association between exposure to AI and CV outcomes (including myocardial infarction, ischemic stroke, heart failure or any CV event) by a Cox proportional hazard model with inverse probability of treatment and censoring weighting. Results: The study cohort included 26,009 women starting treatment with AI and 7937 with tamoxifen. Over a median follow-up of 5.8 years, a positive association was found between AI and heart failure (Hazard Ratio = 1.20, 95% CI: 1.02 to 1.42) and any CV event (1.14, 1.00 to 1.29). The CV risk increased in women with previous CV risk factors, including hypertension, diabetes and dyslipidemia. Conclusions: Adjuvant therapy with AI in breast cancer women aged more than 50 years is associated with increased risk of heart failure and combined CV events.

scholarly journals Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cumulative Risk ◽  
Population Based ◽  
Case Control ◽  
Cancer Information ◽  
Case Control Studies ◽  
Breast Cancer Family ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Control Family

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. We conducted a population-based case-control-family study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5–9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02–11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5–12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11–30%) and 33% (95% CI 21–48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.

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