Background: It is clinically widely overlooked that many patients with Marfan- (MFS) or Loeys-Dietz-Syndrome (LDS) are obese. While anthropometric routine parameters are not very suitable, the modern Bioelectrical Impedance Analysis (BIA) seems superior for the acquisition of reliable noninvasive assessment of body composition of patients. The aim of the study was to assess the body composition of patients with MFS/LDS by BIA in order to detect occult obesity, which may be a risk marker for aortic or vascular complications. Methods: In this exploratory cross-sectional study, 50 patients (66% female; mean age: 37.7 11.7 [range: 17–64] years) with a molecular genetic (n = 45; 90%) or clinical (n = 5; 10%) proven diagnosis of MFS or LDS were enrolled between June 2020 and February 2022. All BIA-measurements were performed with the Multifrequence-Impedance-Analyzer Nutriguard-MS (Data Input, Poecking, Germany). Results: The MFS/LDS collective was significantly different from an age-, sex-, and BMI-adjusted control in terms of body fat, percent cellularity, body cell mass, extra cellular mass/body cell mass index, and phase angle (all p 0.05). The mean BIA-measured bodyfat was 31.7 8.7% [range: 9.5–53.5%], while the mean calculated BMI of the included patients was 23.0 4.8 kg/ [range: 15.2–41.9 kg/ ]. Therefore, using the obesity cut-off values for the body fat percentage of 25% in men and 35% in women, the BIA classifies as many as 28 patients (56.0%) as obese. In contrast only 12 patients (24.0%) were pre-obese, respectively 3 (6.0%) obese by BMI. The significant difference ( p 0.001) had an accordance of 42.7%. Overall, 15 patients (13 MFS; 2 LDS) had previous aortic surgery (n = 14) and/or interventional treatment (n = 2) for aortic complications (aneurysm, aortic dissection). 11 out of these 15 (73.3%) were currently classified as obese by BIA. Conclusions: The fact that many patients with MFS or LDS are obese is widely unknown, although obesity may be associated with impaired vascular endothelial function and an increased risk of cardiovascular complications. Also, in patients with MFS/LDS, BIA allows a reliable assessment of the body composition beyond the normal anthropometric parameters, such as BMI. In the future, BIA-data possibly may be of particular importance for the assessment of the vascular risk of MFS/LDS patients, besides the aortic diameters.

Background: Improved treatment options for congenital heart disease (CHD) lead to a growing number of women with CHD at reproductive age. Due to physical and psychological burden, pregnancies in women with CHD often count for high-risk. Resulting emotional distress can adversely impact pregnancy, motherhood and fetal health. The present study aims to retrospectively investigate mental outcomes and indices of adjustment in women with CHD before, during and after pregnancy. The novel concept of illness identity is applied to explain how patients experience and integrate their CHD into their identities.Methods: Patient-reported outcome measures on mental functioning and illness identity were assessed in a sample of 121 postpartum women with CHD [mean age: 42.7±9.2 (range, 27-81) years] at the German Heart Centre Munich between August and November 2021 in a cross-sectional design. Descriptive analyses, correlations and linear regression models were calculated.Results: Retrospectively assessed prevalence of emotional distress before giving birth was high (47.0%) and peaked shortly after childbirth in terms of elevated symptoms of postpartum depression and trauma. During the course of maternity, emotional distress decreased significantly (24.1%, P<0.001). Overall, postpartum women demonstrated high scores in functional illness identity states (i.e., acceptance and enrichment) and low scores in dysfunctional states (i.e., rejection and engulfment). CHD severity was not directly associated with mental outcomes (P>0.05), whereas maternal cardiovascular risk, according to the WHO classification, was significantly associated with a higher prevalence of postpartum trauma (t=2.485, P=0.015).Conclusions: Postpartum mental health problems, such as (postpartum) depression, anxiety, and posttraumatic stress can become a serious burden which might be detrimental to the mother's well-being and her infant's development. Present findings emphasise the urgent need for a holistic approach focusing on pregnant women with CHD starting at the prepartum stage to prevent adverse consequences and promote maternal well-being. Illness identity might become an important target construct for clinical practice as it may positively and enduringly influence mental well-being of pregnant women with CHD.

Background: Aortic aneurysm and aortic dissection can have a major impact on the life expectancy of Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS) patients. Although obesity can influence the development of aortic complications, evidence on whether obesity influences the development of aortic aneurysm or dissection in MFS and LDS is limited. The aim of the present study was to elucidate the relationship between aortic size and body composition, assessed by modern bioelectrical impedance analysis (BIA) in MFS/LDS-patients. Methods: In this exploratory cross-sectional study in MFS or LDS patients, enrolled between June 2020 and May 2022, 34 patients received modern BIA and magnetic resonance imaging (MRI) (n=32) or computed tomography (CT) imaging (n=2) of the entire aorta. A P value of <0.05 was considered significant.Results: Fifty-one patients (66% female; mean age: 37.7±11.7; range, 17-68 years) with MFS or LDS were enrolled; 34 patients, 27 with MFS and 7 with LDS, underwent aortic MRI or CT scanning. The mean aortic length was 503.7±58.7 mm, and the mean thoracic aortic length and abdominal aortic length were 351.5±52.4 and 152.2±27.4 mm, respectively. The aortic bulb and the ascending aorta were measured only in the non-surgically repaired patients. Fifteen MFS (88.2%) and two LDS (40.0%) patients had an aortic aneurysm. In these, the aortic bulb tended to be larger in MFS than in LDS patients [42.6×41.9×41.2 vs. 37.8×37.4×36.8 mm; P=0.07 (−1.1; 9.1); P=0.07 (−1.2; 8.4); P=0.07 (−1.5; 7.9)]. BIA revealed mean body fat levels of 31.6%±8.7% (range, 9.5-53.5%), indicating that 18 patients (52.9%) were obese. There was a significant correlation between body fat content and thoracic aortic length (R=−0.377; P=0.02), muscle mass and total aortic length (R=0.359; P=0.03), thoracic aortic length (R=0.399; P=0.02), extracellular mass (ECM),

Background: Fabry disease (FD) is a multi-organ disorder associated with severe physical and psychological impairments, particularly in adulthood. To date, comprehensive data on the psychological burden of FD are lacking. The present study assessed quality of life (QOL) in a representative cohort of adults with FD.Methods: Patient-reported outcome measures were retrospectively analyzed in 86 adults with FD (49.6± 16.6 years; 62.8% female) and compared to adults with congenital heart defects (ACHD) which is another lifelong disease and affliction. QOL was assessed using the European Quality of Life 5 Dimensions 5 Levels questionnaire (EQ-5D-5L).Results: Subjects affected by FD reported an overall reduced QOL (EQ-VAS: 71.8±20.0). Most frequently reported complaints occurred within the dimensions pain/discomfort (69.7%), daily activities (48.9%) and anxiety/depression (45.4%). Compared to ACHD, individuals with FD scored significantly lower in the areas of pain/discomfort, usual activities and mobility (all P<0.05). Older age and female sex were particularly associated with diminished QOL (P=0.05).Conclusions: Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective well-being to potentially increase their QOL and long-term health outcomes.

Background: Pulmonary vascular disease and pulmonary hypertension (PH) belong to the most relevant complications of congenital heart disease (CHD) in the long-term course. Although PH might lead to a severely impaired quality of life (QOL), there are no current studies comparing QOL in adults with CHD (ACHD) with and without PH. Therefore, this study aimed to systematically examine QOL in ACHD with and without PH in order to generate a more differentiated understanding of their overall health-status and to employ newly gained findings into general care of this particular patient population.Methods: In this comparative cross-sectional study, a representative sample of 803 adults with various forms of CHD with or without PH was analyzed. Data collection took place between September 2017 until February 2018 in a tertiary care center for ACHD. Medical data was retrieved from medical records. QOL was assessed using the EQ-5D-5L questionnaire. Descriptive methods, chi-square and t-tests were used to compare QOL of patients with and without PH. Results: Of 803 patients, 752 patients had no PH [93.6%; 47.3% female; mean age: 34.9±11.83 (range, 18-86) years], 51 were identified with manifest PH [6.4%; 55.8% female; mean age: 41.9±12.17 (range, 21-69) years]. PH patients showed significantly worse overall QOL [mean no PH: 86.78±13.30 (8.2-100) vs.