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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.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 of0.05 was considered significant.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 [42.6×41.9×41.2While a slender habitus is commonly known for MFS and LDS patients, our data show that many MFS and LDS patients (especially female) do not fit this phenotypic characteristic and are obese, which is associated with a more severe aortic phenotype. This topic should be included in the clinical assessment of affected MFS and LDS patients, in addition to measurement of the aortic diameters. Physicians should systematically screen MFS and LDS patients for obesity, educate them about the potential risk of resulting aortic complications, and encourage them to adopt a healthy lifestyle, that includes (mild) exercise and a balanced diet.

(1) Background: Systemic mastocytosis is a rare, non-curable disease with potential life-threatening complications in patients receiving cardiac surgery. (2) Methods: This systematic review of the literature was prompted by the case of a life-threatening anaphylactic reaction during cardiac surgery related to systemic mastocytosis. The search of all types of studies, using several databases (Pubmed, Scopus and Web of Science), was conducted through September 2022 to identify the relevant studies. (3) Results: Twelve studies were included describing cases of patients undergoing cardiac surgery who were diagnosed with systemic mastocytosis. An adverse effect, namely anaphylaxis, has happened in three cases. Different strategies of premedication, intraoperative and postoperative management were used. In our case, the patient was admitted for elective biological aortic valve replacement due to severe aortic stenosis. Intraoperatively, the patient developed an anaphylactic shock during the administration of protamine after separation from the cardiopulmonary bypass. This anaphylaxis reaction was a complication of the pre-existing systemic mastocytosis and could be successfully managed by the administration of epinephrine, antihistamines and corticosteroids. (4) Conclusions: This systematic literature search and case report highlight the importance of careful preoperative planning, as well as coordination between cardiac surgeons, anesthesiologists and hemato-oncological specialists, in patients with rare but complication-prone diseases such as systemic mastocytosis.

Background All patients with congenital heart disease (CHD) are chronically ill from their cardiac disease. Despite the increasing evidence that aortic alterations are becoming relevant, the importance of aortopathy in CHD has long been underestimated. This study was conducted to determine the health status of patients and/or the provision of health services of adults with CHD (ACHD) with manifest aortopathy or at risk thereof. Methods In a questionnaire-based cross-sectional survey, the "real life"-care of ACHD was analysed, comparing patients with risk of developing aortopathy and/or manifest aortopathy. Results Of the 563 enrolled ACHD (49.6% female, mean age 35.8±12.1, 18-86 years) 56.8% (n=320) had a risk of developing aortopathy and/or manifest aortopathy. Of the 320 patients at risk, 187 (33.2% of the total number) had a proven aortopathy. Within this subgroup, the basic medical care for CHD-independent medical problems was given by primary medical care providers [family doctors/general practitioners (GP) in 89.4% (n=286), internists in 13.4% (n=43), physicians of another specialty in 2.5% (n=8)]. Almost all primary medical care providers knew about the CHD of their patients. Even for CHD-specific health problems, the basic medical care of risk patients was provided by a family doctor or GP in 56.6% (n=181) and by an internist in 18.4% (n=59). 30.0% (n=96) primarily consulted another specialist, including cardiologists. Only 32.8% of ACHD at risk had ever been referred to a CHD specialist by a GP for cardiac problems related to their CHD. In contrast, the need for advice was high for ACHD with aortopathy and related mainly to physical activity, employment and education, pregnancy, rehabilitation or health and life insurance. Only 35.5% of patients at risk indicated that their information on specific care structures for ACHD was sufficient, and a further 38.1% of patients were aware of patient organizations. Conclusions Even today, aortic involvement in ACHD is an often-overlooked condition, although considerable negative effects on morbidity and mortality exist. As aortopathy gains in importance with increasing age and complexity of CHD, almost all affected ACHD need lifelong medical advice and access to modern, scientifically based care concepts. According to the study-results, primary care providers and also patients are mostly insufficiently informed about the specialized ACHD facilities. The future goal is therefore to create a better awareness of CHD problems among both primary care physicians and the patients concerned.

Background and Objective: The number of adults with congenital heart disease (ACHD) is increasing worldwide. Almost all congenital cardiac lesions can be successfully treated due to the progress in neonatal surgery and pediatric cardiology with a high likelihood of surviving until adulthood. However, ACHD frequently develop sequelae related to the initial cardiac anomaly. Heart failure (HF) is one of the most common complications associated with a high morbidity and mortality.Methods: The authors did search the PubMed database regarding relevant content covering publications up to March 2022. Relevant manuscripts were classified according to the impact factor of the journal, being a guideline manuscript, a position paper by a society or a comprehensive review of the current literature. Key content and findings: Optimal HF treatment remains an unmet need in ACHD. In particular, advanced HF therapy with cardiac resynchronization therapy, ventricular assist devices or organ transplantation is still very different and more specific in ACHD compared to non-ACHD. This review aims to compile international views and evidence from the literatures on the treatment of advanced HF in ACHD. Current challenges, but also the success of different treatment strategies in ACHD are illustrated by clinical cases.Conclusions: The main finding of the review is that data is still scarce regarding ACHD with advanced HF and international efforts to collect data regarding these patients needed to improve the current standard of care.

Background The number of adults with congenital heart disease (ACHD) is steadily rising due to increased survival rate and improved medical resources. Accordingly, more than 330,000 ACHD are currently living in Germany. Almost all of them require lifelong specialized medical follow-up for their chronic heart disease, often accompanied by residua, sequelae, or comorbidities. Primary care physicians (PCPs) are a crucial factor in directing patients to ACHD specialists or specialized institutions, but despite all efforts, the number of ACHD under specialized care is low, the lost-to-follow-up rate is high, and the morbidity and mortality is substantial. The present cross-sectional study was designed to systematically characterize the health care of ACHD from a patient perspective, including (I) use of medical care by ACHD, (II) medical counselling needs, and (III) perceived satisfaction with health care. Methods The German-wide analysis was based on a 25-item questionnaire designed to address different aspects of medical status and health issues of ACHD from their own perspective, performed between May of 2017 and July of 2020. Results A total of 4,008 ACHD (52% female; mean age 41.9±17.2 years) completed the questionnaire. The majority of ACHD (3,524, 87.9%) reported, that they consulted their PCP for non-cardiac health problems, and 49.7% (n=1,991) consulted their PCP also for medical problems associated with the underlying CHD. Almost all ACHD reported a need for medical advice concerning exercise capacity and daily life activities, occupational skills, pregnancy, rehabilitation, genetic counselling, insurance, and retirement. A total of 1,840 (45.9%) patients were not aware of the existence of certified ACHD specialists or centers. Moreover, 2,552 (67.6%) of those surveyed were uninformed about patient organizations for ACHD. Conclusions The present study demonstrates that ACHD are largely uninformed about the ACHD care structures available nationwide, although the patients have a great need for specialized follow-up, advice, and care.

BACKGROUND: Pulmonary arterial hypertension (PAH) is common in congenital heart disease (CHD). Because clinical-trial data on PAH associated with CHD (PAH-CHD) remain limited, registry data on the long-term course are essential. This analysis aimed to update information from the COMPERA-CHD registry on management strategies based on real-world data. METHODS: The prospective international pulmonary hypertension registry COMPERA has since 2007 enrolled more than 10,000 patients. COMPERA-CHD is a sub-registry for patients with PAH-CHD. RESULTS: A total of 769 patients with PAH-CHD from 62 specialized centers in 12 countries were included into COMPERA-CHD from January 2007 through September 2020. At the last follow-up in 09/2020, patients [mean age 45.3±16.8 years; 512 (66%) female] had either post-tricuspid shunts (n=359; 46.7%), pre-tricuspid shunts (n=249; 32.4%), complex CHD (n=132; 17.2%), congenital left heart or aortic valve or aortic disease (n=9; 1.3%), or miscellaneous CHD (n=20; 2.6%). The mean 6-minute walking distance was 369±121 m, and 28.2%, 56.0%, and 3.8% were in WHO functional class I/II, III or IV, respectively (12.0% unknown). Compared with the previously published COMPERA-CHD data, after 21 months of follow-up, the number of included PAH-CHD patients increased by 91 (13.4%). Within this group the number of Eisenmenger patients rose by 39 (16.3%), the number of "Non-Eisenmenger PAH" patients by 45 (26.9%). Currently, among the 674 patients from the PAH-CHD group with at least one follow-up, 450 (66.8%) received endothelin receptor antagonists (ERA), 416 (61.7%) PDE-5 inhibitors, 85 (12.6%) prostacyclin analogues, and 36 (5.3%) the sGC stimulator riociguat. While at first inclusion in the COMPERA-CHD registry, treatment was predominantly monotherapy (69.3%), this has shifted to favoring combination therapy in the current group (53%). For the first time, the nature, frequency, and treatment of significant comorbidities requiring supportive care and medication are described. CONCLUSIONS: Analyzing "real life data" from the international COMPERA-CHD registry, we present a comprehensive overview about current management modalities and treatment concepts in PAH-CHD. There was an trend towards more aggressive treatment strategies and combination therapies. In the future, particular attention must be directed to the "Non-Eisenmenger PAH" group and to patients with complex CHD, including Fontan patients. TRIAL REGISTRATION: www.clinicaltrials.gov, study identifier: Clinicaltrials.gov NCT01347216. ispartof: CARDIOVASCULAR DIAGNOSIS AND THERAPY vol:11 issue:6 pages:1255-1268 ispartof: location:China status: published

BACKGROUND: The number of adults with congenital heart disease (ACHD) is steadily increasing. Over their life-time, many of the affected patients require medical rehabilitation after interventional or surgical treatment of residua, sequels or complications of their congenital heart defect (CHD). However, up to now only scarce data exist about indication, performance and outcomes of cardiac rehabilitation in ACHD. METHODS: The course and outcome of rehabilitation after previous interventional or surgical treatment in ACHD was analyzed in a retrospective cohort study. RESULTS: Two hundred and five ACHD {54% female; mean age 34±12 [16–68] years} with mild (23.9%), moderate (35.1%) or severe CHD (41.0%), of whom 32% had complex CHD, 21% right-ventricular outflow tract obstructions, 20% pre-tricuspid shunts, 18% left heart or aortic anomalies, 9% post-tricuspid shunts and 2% other congenital cardiac anomalies were included into analysis. The main indications for rehabilitation were a preceding surgical (92%) or interventional (3%) treatment of the underlying CHD immediately before rehabilitation. During rehabilitation, no severe complications occurred. The number of patients in function class I/II increased from 189 to 200 and decreased in class III/IV from 16 to 5. Cardiac medication could be reduced or stopped after rehabilitation in 194 patients, with the exception of ACE-inhibitors. There was an improvement in cardiovascular risk factors. While before medical treatment 77% (n=157) patients were capable of working, the number increased to 82% [168] at the end of rehabilitation. Throughout a follow-up 9.3% (n=19) of patients needed further cardiac interventions. CONCLUSIONS: The current study provided for the first time comprehensive data on the course of rehabilitation in a large cohort of ACHD after surgical or interventional treatment. The overall outcome of ACHD after rehabilitation was uneventful and favorable. Further research is required to assess the clinical long-term outcome, the impact of rehabilitation on the quality of life, disease coping and employment. The results of this study can serve as a benchmark for the development of specific rehabilitation programs in ACHD.