Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.

OBJECTIVE: This study describes the influence of sex and disease phenotype on the occurrence of cardiac events in Fabry disease (FD). METHODS: Cardiac events from birth to last visit (median age 50 years) were recorded for 213 patients with FD. Patients were categorised as follows : men with classical FD (n=57), men with non-classical FD (n=26), women with classical FD (n=98) and women with non-classical FD (n=32), based on the presence of classical FD symptoms, family history (men and women), biomarkers and residual enzyme activity (men). Event rates per 1000 patient-years after the age of 15 years and median event-free survival (EVS) age were presented. Influence of disease phenotype, sex and their interaction was studied using Firth's penalised Cox regression. RESULTS: The event rates of major cardiovascular events (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalisation, sustained ventricular arrhythmias (SVAs) and myocardial infarction) were 11.0 (95% CI 6.6 to 17.3) in men with classical FD (EVS 55 years), 4.4 (95% CI 2.5 to 7.1) in women with classical FD (EVS 70 years) and 5.9 (95% CI 2.6 to 11.6) in men with non-classical FD (EVS 70 years). None of these events occurred in women with non-classical FD. Sex and phenotype significantly influenced the risk of major adverse cardiovascular event. CVD was the leading cause of death (75%) to which HF contributed most (42%). The overall rate of SVA was low (14 events in nine patients (4%)). CONCLUSIONS: Sex and phenotype greatly influence the risk and age of onset of cardiac events in FD. This indicates the need for patient group-specific follow-up and treatment.

Distribution of lipid parameters according to different socio-economic indicators- the EPIC-Norfolk prospective population study.

BACKGROUND: Data on the relationship between plasma levels of cholesterol and triglycerides and social class have been inconsistent. Most previous studies have used one classification of social class. METHODS: This was a cross-sectional population based study with data on occupational social class, educational level obtained using a detailed health and lifestyle questionnaire. A total of 10,147 men and 12,304 women aged 45-80 years living in Norfolk, United Kingdom, were recruited using general practice age-sex registers as part of the European Prospective Investigation into Cancer (EPIC-Norfolk). Plasma levels of cholesterol and triglycerides were measured in baseline samples. Social class was classified according to three classifications: occupation, educational level, and area deprivation score according to Townsend deprivation index. Differences in lipid levels by socio-economic status indices were quantified by analysis of variance (ANOVA) and multiple linear regression after adjusting for body mass index and alcohol consumption. RESULTS: Total cholesterol levels were associated with occupational level among men, and with educational level among women. Triglyceride levels were associated with educational level and occupational level among women, but the latter association was lost after adjustment for age and body mass index. HDL-cholesterol levels were associated with both educational level and educational level among men and women. The relationships with educational level were substantially attenuated by adjustment for age, body mass index and alcohol use, whereas the association with educational class was retained upon adjustment. LDL-cholesterol levels were not associated with social class indices among men, but a positive association was observed with educational class among women. This association was not affected by adjustment for age, body mass index and alcohol use. CONCLUSIONS: The findings of this study suggest that there are sex differences in the association between socio-economic status and serum lipid levels. The variations in lipid profile with socio-economic status may be largely attributed to potentially modifiable factors such as obesity, physical activity and dietary intake.

Peri-operative care in adults with congenital heart disease: room for improvement in after care.

BACKGROUND: Patient satisfaction with care has received little attention within the field of congenital heart disease. Our objective was to examine patient satisfaction with the care received when undergoing open-heart surgery in order to identify the best and worst aspects of peri-operative care. Moreover, we examined whether having contact with a specialised nurse in addition to usual care is associated with higher patient satisfaction levels. METHODS: Patient satisfaction was measured by the Satisfaction with Hospital Care Questionnaire, evaluating nine aspects of care by answering individual items and giving overall grades. A top 10 of the best and worst items was selected. Linear regression analyses were used to examine the relationship between having contact with a specialised nurse and patient satisfaction (9 grades), independent of patient characteristics--sex, age, educational level, and health status. RESULTS: Data were available for 75 patients. Grades ranged from 6.74 for "discharge and after care" to 8.18 for "medical care". In all, 21% of patients were dissatisfied with the clarity of the information about lifestyle adjustments given by the surgeon. However, patients who had contact with a specialised nurse were more satisfied with the provided information (B-coefficient is 0.497, p-value is 0.038), independent of patient characteristics. CONCLUSIONS: Patients were satisfied with the received care, although there is room for improvement, especially in discharge and after care and the clarity of the information provided by the surgeon. This gap in care can be compensated for by specialised nurses, as patients who were counselled by a specialised nurse were more satisfied with the provided information.

Surgical versus percutaneous treatment of aortic coarctation: new standards in an era of transcatheter repair.

Aortic coarctation is a common congenital cardiovascular defect, which can be diagnosed over a wide range of ages and with varying degrees of severity. Surgery has proven to be an effective treatment for the management of native aortic coarctation, and remains the treatment of choice in neonates. Balloon angioplasty with or without stenting has evolved rapidly over the past decade. Balloon angioplasty is the treatment of choice in children with re-coarctation, and currently available immediate results in native coarctation are similar with regards to gradient reduction as compared with surgery. However, both treatment options carry the risk of restenosis and aortic wall complications, especially after balloon angioplasty without stenting in native coarctation. On the other hand, stent implantation has shown excellent short-term results in both children beyond infancy and in adults with native coarctation. In patients with recurrent coarctation who are at high surgical risk, balloon angioplasty and stent repair offer a less invasive and equally effective method. Stent repair is preferred over balloon angioplasty in adults and outgrown children with a recurrent coarctation, as the risk for re-coarctation and aneurysm formation seems to be lower. Data with regard to long-term outcome after percutaneous treatment strategies are scarce. This review summarizes the current insights in the efficacy and safety of both surgical and transcatheter treatment options for aortic coarctation.

Bayesian meta-analysis of genetic association studies with different sets of markers.

Robust assessment of genetic effects on quantitative traits or complex-disease risk requires synthesis of evidence from multiple studies. Frequently, studies have genotyped partially overlapping sets of SNPs within a gene or region of interest, hampering attempts to combine all the available data. By using the example of C-reactive protein (CRP) as a quantitative trait, we show how linkage disequilibrium in and around its gene facilitates use of Bayesian hierarchical models to integrate informative data from all available genetic association studies of this trait, irrespective of the SNP typed. A variable selection scheme, followed by contextualization of SNPs exhibiting independent associations within the haplotype structure of the gene, enhanced our ability to infer likely causal variants in this region with population-scale data. This strategy, based on data from a literature based systematic review and substantial new genotyping, facilitated the most comprehensive evaluation to date of the role of variants governing CRP levels, providing important information on the minimal subset of SNPs necessary for comprehensive evaluation of the likely causal relevance of elevated CRP levels for coronary-heart-disease risk by Mendelian randomization. The same method could be applied to evidence synthesis of other quantitative traits, whenever the typed SNPs vary among studies, and to assist fine mapping of causal variants.