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

ABSTRACT: Human 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.

SUBMITTER: Bachar-Wikstrom E

PROVIDER: S-EPMC7181854 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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

Bachar-Wikstrom Etty E Curman Philip P Ahanian Tara T Leong Ivone U S IUS Larsson Henrik H Cederlöf Martin M Wikstrom Jakob D JD

Scientific reports 20200423 1

Human 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<sup>+</sup> 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 ...[more]

PMID: 32327688

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Project description:BackgroundAlthough sex differences in cardiovascular diseases are recognised, including differences in incidence, clinical presentation, response to treatments, and outcomes, most of the practice guidelines are not sex-specific. Heart failure (HF) is a major public health challenge, with high health care expenditures, high prevalence, and poor clinical outcomes. The objective was to analyse the sex-specific association of socio-demographics, life-style factors and health characteristics with the prevalence of HF and diastolic left ventricular dysfunction (DLVD) in a cross-sectional population-based study.MethodsA random sample of 2001 65-84 year-olds underwent physical examination, laboratory measurements, including N-terminal pro-B-type natriuretic peptide (NT-proBNP), electrocardiography, and echocardiography. We selected the subjects with no missing values in covariates and echocardiographic parameters and performed a complete case analysis. Sex-specific multivariable logistic regression models were used to identify the factors associated with the prevalence of the diseases, multinomial logistic regression was used to investigate the factors associated to asymptomatic and symptomatic LVD, and spline curves to display the relationship between the conditions and both age and NT-proBNP.ResultsIn 857 men included, there were 66 cases of HF and 408 cases of DLVD (77% not reporting symptoms). In 819 women, there were 51 cases of HF and 382 of DLVD (79% not reporting symptoms). In men, the factors associated with prevalence of HF were age, ischemic heart disease (IHD), and suffering from three or more comorbid conditions. In women, the factors associated with HF were age, lifestyles (smoking and alcohol), BMI, hypertension, and atrial fibrillation. Age and diabetes were associated to asymptomatic DLVD in both genders. NT-proBNP levels were more strongly associated with HF in men than in women.ConclusionsThere were sex differences in the factors associated with HF. The results suggest that prevention policies should consider the sex-specific impact on cardiac function of modifiable cardiovascular risk factors.

Project description:AimCeliac disease (CD) is an immune-mediated disorder with various manifestations. The aim of this study was to evaluate the prevalence of gastrointestinal (GI) and extra-intestinal symptoms of celiac patients, especially migraine, and compare it with healthy individuals.MethodsWe compared 1000 celiac subjects (CS) registered at our celiac center with the control group for headache-based on International Classification of Headache Disorders, third edition criteria and their GI symptoms. Besides, CS with migraine and non-migrainous headache were compared in terms of GI symptoms and accompanied conditions.ResultsHeadache was more common in CS than controls (34% vs 27% respectively, P value<0.001) and more prevalent in females (71.9% in females vs 28% in males, P value = 0.004). Moreover, the prevalence of migraine in CS was higher than controls (20.7 vs 11.9% respectively, P value<0.001). Furthermore, migraine was more prevalent in females with CD (80% in females vs 19% in males, P value = 0.033), and often without aura (76%). Abdominal pain (76.9%, P value = 0.025), diarrhea (54.9%, P value = 0.002), and constipation (42.9%, P value = 0.011) were the most common GI symptoms in CS with headache and more prevalent in CS with migraine. Conversely, type 1 diabetes mellitus was less common in CS with migraine than in CS with non-migrainous headache. (P value = 0.001). On multivariate logistic regression analysis, female sex (OR 1.50, 95%CI 1.22-1.83, P value < 0.001), and CD (OR 1.36, 95%CI 1.12-1.65, P value = 0.002) were independent predictors of headache, whereas age more than 60 years (OR 0.70, 95%CI 0.50-0.97, P value = 0.032) had a protective effect.ConclusionHeadache especially migraine is more prevalent in CS than healthy controls. In addition, abdominal pain, diarrhea, and constipation are more common in CS with migraine than in CS with non-migrainous headaches. Therefore, evaluation of CD in patients with migraine and these simultaneous GI symptoms seems reasonable.

Project description:ObjectivePaediatric heart transplantation (PHTX) comprises 12% of all cardiac transplants and many of the children now survive into adulthood. Only a few studies have investigated the long-term psychosocial well-being of young adult patients after PHTX; no studies have investigated developmental tasks of emerging adulthood in different domains (family, social environment, education and profession, partnership, social environment).SettingSpecialised heart centre in Germany.ParticipantsThirty-eight young adults aged 22.11 years (SD=4.7) who underwent PHTX and a control group of 46 participants with no known chronic diseases, aged 22.91 years (SD=1.8), participated in the study.Outcome measuresAll participants completed the following questionnaires: sociodemographic, the F-SozU, to measure perceived social support, the Gießener Beschwerde-Bogen to measure subjective complaints experienced by patients, the KIDSCREEN-27 to measure well-being and the SF-36 to measure health-related quality of life (QoL).Results'Family': the quality of the relationship with the parents was found to be equal in both groups, while PHTX patients stayed in closer spatial proximity to their parents. 'Social environment': PHTX patients reported lower social support by peers than the control group. 'Education and profession': PHTX patients most often worked full-time (23%), had no job and/or received a pension (21%). In comparison, most of the healthy controls did an apprenticeship (40%) and/or worked part time (32%). 'Partnership': fewer of the PHTX patients had a partner than the control group while relationship duration did not differ. In exploratory regression analyses, social support by peers predicted physical QoL, whereas physical complaints and the physical role predicted mental QoL in PHTX patients.ConclusionsOur exploratory findings highlight important similarities and differences in specific developmental tasks between PHTX patients and healthy controls. Future studies should focus on developmental tasks of PHTX patients in this age group more systematically, investigating their role in physical and mental well-being in a confirmatory manner.

Dataset Information

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

Publications

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

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