Both genetic and environmental factors play a role in the pathogenesis of type 2 diabetes and cardiovascular diseases. The magnitude of genetic and environmental influences may vary in different populations and can be investigated by twin studies.

Depressive disorders are among the most important health problems and are predicted to constitute the leading cause of disease burden by the year 2030. Aside significant impact on quality of life, psychosocial well-being and socioeconomic status of affected patients, depression is associated with impaired cardiovascular health and increased mortality. The link between affective and cardiovascular disease has largely been attributed to dysregulation of the autonomic nervous system resulting in a chronic shift toward increased sympathetic and decreased parasympathetic activity and, consecutively, cardiac dysautonomia. Among proposed surrogate parameters to capture and quantitatively analyze this shift, heart rate variability (HRV) and baroreflex sensitivity have emerged as reliable tools. Attenuation of these parameters is frequently seen in patients suffering from depression and is closely linked to cardiovascular morbidity and mortality. Therefore, diagnostic and therapeutic strategies were designed to assess and counteract cardiac dysautonomia. While psychopharmacological treatment can effectively improve affective symptoms of depression, its effect on cardiac dysautonomia is limited. HRV biofeedback is a non-invasive technique which is based on a metronomic breathing technique to increase parasympathetic tone. While some small studies observed beneficial effects of HRV biofeedback on dysautonomia in patients with depressive disorders, larger confirmatory trials are lacking. We reviewed the current literature on cardiac dysautonomia in patients suffering from depression with a focus on the underlying pathophysiology as well as diagnostic workup and treatment.

Central blood pressure and aortic stiffness have been consistently reported as strong cardiovascular risk factors. Twin studies by comparing identical with nonidentical twins produce information on the relative contribution of genes and environment. One hundred and fifty-four monozygotic (MZ) and 42 dizygotic (DZ) twin pairs (age 43 ± 17 years) from Hungary and the United States underwent brachial and central augmentation index (AIx), brachial and central pressure, and aortic pulse wave velocity (PWV) measurements with the invasively validated Arteriograph device. Bivariate Cholesky decomposition models were applied. Age-adjusted, sex-adjusted and country-adjusted heritability was 60.0% for central SBP [95% confidence interval (CI), 44.8–69.6%], 50.1% for aortic PWV (95%CI, 26.0–66.8%), 48.7% for aortic AIx (95%CI, 1.7–74.0%), 46.8% for brachial AIx (95%CI, 1.1–73.8%), 46.7% for central pulse pressure (PP) (95%CI, 12.4–61.4%), and 30.0% for brachial PP (95%CI, 0.0–53.4%). Central SBP and PP had strong bivariate correlations with brachial (r = 0.461 and 0.425) and central AIx (r = 0.457 and 0.419), as well as with aortic PWV (r = 0.341 and 0.292, all P < 0.001). Brachial PP had a weak correlation with brachial AIx (r = −0.118, P < 0.05), central AIx (r = −0.122, P < 0.05), and none with aortic PWV (r = 0.08, P = n.s.). Genetic factors explained a moderate phenotypic correlation between central PP, SBP, brachial SBP and aortic PWV. Central systolic and PPs, brachial PP, AIx, aortic PWV are moderately heritable. A moderate genetic covariance among aortic PWV and central PP, central SBP and brachial SBP was found.

Background and Purpose—: Few family studies reported moderate genetic impact on the presence and scores of carotid plaques. However, the heritability of carotid plaque characteristics remains still unclear. Twin studies more reliably estimate the relative contribution of genes to these traits in contrast to family study design. Methods—: One hundred ninety-two monozygotic and 83 dizygotic adult twin pairs (age 49±15 years) from Italy, Hungary, and the United States underwent B-mode and color Doppler ultrasound of bilateral common, internal, and external carotid arteries. Results—: Age-, sex-, and country-adjusted heritability was 78% for the presence of carotid plaque (95% CI, 55%–90%), 74% for plaque echogenicity (hypoechoic, hyperechoic, or mixed; 95% CI, 38%–87%), 69% for plaque size (area in mm ² in longitudinal plane; < or >50 percentile; 95% CI, 16%–86%), 74% for plaque sidedness (unilateral or bilateral; 95% CI, 25%–90%), 74% for plaque numerosity (95% CI, 26%–86%), 68% (95% CI, 40%–84%), and 66% (95% CI, 32%–90%) for the presence of plaque in carotid bulbs and proximal internal carotid arteries. No role of shared environmental factors was found. Unique environmental factors were responsible for the remaining variance (22%–34%). Controlling for relevant covariates did not change the results significantly. Conclusions—: The heritability of ultrasound characteristics of carotid plaque is high. Unshared environmental effects account for a modest portion of the variance. Our findings should stimulate the search for genes responsible for these traits.

Purpose To investigate the parasympathetic cardiovascular regulation, baroreflex sensitivity (BRS), and pulse wave velocity (PWV) in exfoliation syndrome (XFS). Methods Heart rate variability indices [standard deviation of all RR intervals (SDNN); the mean of absolute successive differences (RMSSD); the percentage of intervals differing by >50 ms from the preceding interval (pNN50); low frequency power, and high frequency power], as well as BRS and PWV, were determined on 27 consecutive white XFS patients and 20 white control subjects under standard circumstances, with controlled breath rate of 0.25 Hz. The paired t test, the Mann-Whitney U test, and the Fisher exact test were used for comparisons. Results There was no significant difference between the XFS and control groups in sex distribution, age, heart rate, blood pressure, body mass index, systemic diseases, or medication. But in XFS patients, SDNN (mean±SD, 24±7.3 vs. 49±16.5 ms), RMSSD (17±7.3 vs. 45±29.1 ms), pNN50 (1.6%±2.5% vs. 17.7%±25.9%), high frequency (112±109 vs. 479±554 ms²), and BRS (4.64±2.12 vs. 9.49±4.76 ms/mm Hg for BRS+ and 5.28±2.16 vs. 10.29±4.62 ms/mm Hg for BRS−) were all significantly lower than in the control group (P<0.01 for each parameter). Low frequency was also reduced in XFS (72±55 vs. 253±241 ms²) (P=0.027). In XFS, PWV was significantly increased compared with the control group (11.6±4.1 vs. 9.3±2.2 m/s) (P=0.023). Discussion Our results suggest a clinically and statistically significant impairment of cardiovagal regulation and impairment of conduit artery function in XFS patients.