Self-care behaviors and their individual-level determinants in Italian adults with Marfan syndrome: A single-center cross-sectional study.

AIM: This study aimed to describe the levels of self-care behaviors and self-care self-efficacy in patients with Marfan syndrome and to identify the individual-level determinants of self-care behaviors. BACKGROUND: The behaviors aimed at maintaining health stability (self-care maintenance), monitoring signs and symptoms (self-care monitoring), and taking action when signs and symptoms occur (self-care management) are key aspects of the care for addressing the complexity of care of patients with Marfan syndrome. However, the description of self-care behaviors and their determinants in patients with Marfan syndrome are highly under-described. METHODS: The adopted design was descriptive observational with a cross-sectional data collection on 111 patients with MFS in a single Italian specialized and reference center for this disease between 2020 and 2021. RESULTS: Performing healthy activities and managing illness, therapies, and follow-ups to maintain health over time (self-care maintenance) was almost adequate (mean score = 67.87 ± 13.17), as well as the ability to recognize signs and symptoms promptly (self-care monitoring, mean score = 67.95 ± 26.70). The ability to respond to symptoms when they occur (self-care management, mean score = 54.17 ± 19.94) was sub-optimal. The stronger positive predictor of each self-care behavior was self-care self-efficacy. CONCLUSIONS: This study suggested prioritizing educational activities focused on enhancing self-care management in patients with Marfan syndrome and strengthening their self-care self-efficacy. Researchers should develop and validate evidence-based educational approaches to enhance self-care in patients with Marfan syndrome, and clinical nurses should strengthen their focused educational activities to improve the self-care management of these patients.

Transition to adulthood and transfer to adult care of adolescents with congenital heart disease: a global consensus statement of the ESC Association of Cardiovascular Nursing and Allied Professions (ACNAP), the ESC Working Group on Adult Congenital Heart Disease (WG ACHD), the Association for European Paediatric and Congenital Cardiology (AEPC), the Pan-African Society of Cardiology (PASCAR), the Asia-Pacific Pediatric Cardiac Society (APPCS), the Inter-American Society of Cardiology (IASC), the Cardiac Society of Australia and New Zealand (CSANZ), the International Society for Adult Congenital Heart Disease (ISACHD), the World Heart Federation (WHF), the European Congenital Heart Disease Organisation (ECHDO), and the Global Alliance for Rheumatic and Congenital Hearts (Global ARCH).

The vast majority of children with congenital heart disease (CHD) in high-income countries survive into adulthood. Further, paediatric cardiac services have expanded in middle-income countries. Both evolutions have resulted in an increasing number of CHD survivors. Expert care across the life span is necessitated. In adolescence, patients transition from being a dependent child to an independent adult. They are also advised to transfer from paediatrics to adult care. There is no universal consensus regarding how transitional care should be provided and how the transfer should be organized. This is even more challenging in countries with low resources. This consensus document describes issues and practices of transition and transfer of adolescents with CHD, accounting for different possibilities in high-, middle-, and low-income countries. Transitional care ought to be provided to all adolescents with CHD, taking into consideration the available resources. When reaching adulthood, patients ought to be transferred to adult care facilities/providers capable of managing their needs, and systems have to be in place to make sure that continuity of high-quality care is ensured after leaving paediatric cardiology.

Monitoring the Evolution of Asynchrony between Mean Arterial Pressure and Mean Cerebral Blood Flow via Cross-Entropy Methods.

Cerebrovascular control is carried out by multiple nonlinear mechanisms imposing a certain degree of coupling between mean arterial pressure (MAP) and mean cerebral blood flow (MCBF). We explored the ability of two nonlinear tools in the information domain, namely cross-approximate entropy (CApEn) and cross-sample entropy (CSampEn), to assess the degree of asynchrony between the spontaneous fluctuations of MAP and MCBF. CApEn and CSampEn were computed as a function of the translation time. The analysis was carried out in 23 subjects undergoing recordings at rest in supine position (REST) and during active standing (STAND), before and after surgical aortic valve replacement (SAVR). We found that at REST the degree of asynchrony raised, and the rate of increase in asynchrony with the translation time decreased after SAVR. These results are likely the consequence of the limited variability of MAP observed after surgery at REST, more than the consequence of a modified cerebrovascular control, given that the observed differences disappeared during STAND. CApEn and CSampEn can be utilized fruitfully in the context of the evaluation of cerebrovascular control via the noninvasive acquisition of the spontaneous MAP and MCBF variability.

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

Alström syndrome (OMIM#203800) is an ultra-rare autosomal recessive monogenic disease presenting pathogenic variants in ALMS1 (chromosome 2p13). It is characterized by early onset of blindness, hearing loss and systemic comorbidities, with delayed development without cognitive impairment. We aimed to investigate the cognitive functions and describe new pathogenic variants in Alström syndrome patients. Nineteen patients (13 adults, 6 children) underwent a thorough clinical, genetic, laboratory, instrumental, and neurocognitive assessment. Six new pathogenic variants in ALMS1 including the first described in exon 6 were identified. Four patients displayed a "mild phenotype" characterized by slow disease onset or absence of complications, including childhood obesity and association with at least one pathogenic variant in exon 5 or 6. At neurocognitive testing, a significant proportion of patients had deficits in three neurocognitive domains: similarities, phonological memory, and apraxia. In particular, 53% of patients showed difficulties in the auditory working memory test. We found ideomotor and buccofacial apraxia in 74% of patients. "Mild phenotype" patients performed better on auditory working memory and ideomotor apraxia test than "typical phenotype" ones (91.9 + 16.3% vs. 41.7 + 34.5% of correct answers, Z = 64.5, p < .01 and 92.5 + 9.6 vs. 61.7 + 26.3, Z = 61, p < .05, respectively). Deficits in auditory working memory, ideomotor, and buccofacial apraxia were found in these patients and fewer neuropsychological deficits were found in the "mild" phenotype group. Furthermore, in the "mild" phenotype group, it was found that all pathogenic variants are localized before exon 8.

Phenotypes of adults with congenital heart disease around the globe: a cluster analysis.

OBJECTIVE: To derive cluster analysis-based groupings for adults with congenital heart disease (ACHD) when it comes to perceived health, psychological functioning, health behaviours and quality of life (QoL). METHODS: This study was part of a larger worldwide multicentre study called APPROACH-IS; a cross sectional study which recruited 4028 patients (2013-2015) from 15 participating countries. A hierarchical cluster analysis was performed using Ward's method in order to group patients with similar psychological characteristics, which were defined by taking into consideration the scores of the following tests: Sense Of Coherence, Health Behavior Scale (physical exercise score), Hospital Anxiety Depression Scale, Illness Perception Questionnaire, Satisfaction with Life Scale and the Visual Analogue Scale scores of the EQ-5D perceived health scale and a linear analogue scale (0-100) measuring QoL. RESULTS: 3768 patients with complete data were divided into 3 clusters. The first and second clusters represented 89.6% of patients in the analysis who reported a good health perception, QoL, psychological functioning and the greatest amount of exercise. Patients in the third cluster reported substantially lower scores in all PROs. This cluster was characterised by a significantly higher proportion of females, a higher average age the lowest education level, more complex forms of congenital heart disease and more medical comorbidities. CONCLUSIONS: This study suggests that certain demographic and clinical characteristics may be linked to less favourable health perception, quality of life, psychological functioning, and health behaviours in ACHD. This information may be used to improve psychosocial screening and the timely provision of psychosocial care.

Healthcare system inputs and patient-reported outcomes: a study in adults with congenital heart defect from 15 countries.

BACKGROUND: The relationship between healthcare system inputs (e.g., human resources and infrastructure) and mortality has been extensively studied. However, the association between healthcare system inputs and patient-reported outcomes remains unclear. Hence, we explored the predictive value of human resources and infrastructures of the countries' healthcare system on patient-reported outcomes in adults with congenital heart disease. METHODS: This cross-sectional study included 3588 patients with congenital heart disease (median age = 31y; IQR = 16.0; 52% women; 26% simple, 49% moderate, and 25% complex defects) from 15 countries. The following patient-reported outcomes were measured: perceived physical and mental health, psychological distress, health behaviors, and quality of life. The assessed inputs of the healthcare system were: (i) human resources (i.e., density of physicians and nurses, both per 1000 people) and (ii) infrastructure (i.e., density of hospital beds per 10,000 people). Univariable, multivariable, and sensitivity analyses using general linear mixed models were conducted, adjusting for patient-specific variables and unmeasured country differences. RESULTS: Sensitivity analyses showed that higher density of physicians was significantly associated with better self-reported physical and mental health, less psychological distress, and better quality of life. A greater number of nurses was significantly associated with better self-reported physical health, less psychological distress, and less risky health behavior. No associations between a higher density of hospital beds and patient-reported outcomes were observed. CONCLUSIONS: This explorative study suggests that density of human resources for health, measured on country level, are associated with patient-reported outcomes in adults with congenital heart disease. More research needs to be conducted before firm conclusions about the relationships observed can be drawn. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02150603. Registered 30 May 2014.

Multidisciplinary family-centred psychosocial care for patients with CHD: consensus recommendations from the AEPC Psychosocial Working Group.

Because of the enormous advances in the medical treatment of CHD, the long-term survival of patients suffering from this disease has increased significantly. Currently, about 90% of patients reach adulthood, which entails many new challenges both for patients and their families and for healthcare professionals. The main objective of family-centred psychosocial care is to strengthen the emotional resilience of chronically ill patients and their families by adopting a holistic approach. During the biannual meeting of the psychosocial working group in 2012, participants expressed the need for general European guidelines. The present recommendations were written to support medical staff and psychosocial healthcare professionals to provide the best care for children and adolescents with CHD as well as for their families. This article describes in detail how the integrated family-centred psychological care modules work, involving different healthcare specialists, including a paediatric/congenital cardiologist or a general paediatrician. The different clinical implications and specific needs have been taken into account and recommendations have been provided on the following: structured follow-up screening; identification of stressful periods related to cardiac surgery or invasive medical procedures; evidence-based, disease-specific, and family-oriented psychosocial interventions; and interactive media links to medical and psychosocial information.

Best practice in psychological activities in cardiovascular prevention and rehabilitation: Position Paper.

Recent guidelines on cardiovascular disease prevention suggest multimodal behavioral interventions for psychosocial risk factors and referral for psychotherapy in the case of clinically significant symptoms of depression and anxiety overall. Accordingly, psychologists of the Italian Association for Cardiovascular Prevention, Rehabilitation and Epidemiology (GICR-IACPR) have reviewed the key components of psychological activities in cardiovascular prevention and rehabilitation (CPR). The aim of this study was to elaborate a position paper on the best practice in routine psychological activities in CPR based on efficacy, effectiveness and sustainability. The steps followed were: i) a review of the latest international guidelines and position papers; ii) analysis of the evidence-based literature; iii) a qualitative analysis of the psychological services operating in some reference Italian cardiac rehabilitation facilities; iv) classification of the psychological activities in CPR as low or high intensity based on the NICE Guidelines on psychological interventions on anxiety and depression. We confirm the existence of an association between depression, anxiety, social factors, stress, personality and illness onset/outcome and coronary heart disease. Evidence for an association between depression, social factors and disease outcome emerges particularly for chronic heart failure. Some positive psychological variables (e.g., optimism) are associated to illness outcome. Evidence is reported on the impact of psychological activities on 'new' conditions which are now indicated for cardiac rehabilitation: pulmonary hypertension, grown-up congenital heart, end-stage heart failure, implantable cardioverter-defribrillator and mechanical ventricular assist devices, frail and oldest-old patients, and end-of-life care. We also report evidence related to caregivers. The Panel divided evidence-based psychological interventions into: i) low intensity (counseling, psycho-education, self-care, self-management, telemedicine, self-help); or ii) high intensity (individual, couples and/or family and group psychotherapy, such as stress management). The results show that psychotherapy is mainly consisting of cognitive-behavior therapy, interpersonal therapy, and short-term psycho-dynamic therapy. The current data further refine the working tools available for psychological activities in CPR, giving clear directions about the choice of interventions, which should be evidence-based and have at least a minimum standard. This document provides a comprehensive update on new knowledge and new paths for psychologists working in the CPR settings.

Regional variation in quality of life in patients with a Fontan circulation: A multinational perspective.

BACKGROUND: Impaired quality of life (QOL) is associated with congenital heart disease (CHD) and country of residence; however, few studies have compared QOL in patients with differing complexities of CHD across regional populations. The current study examined regional variation in QOL outcomes in a large multinational sample of patients with a Fontan relative to patients with atrial septal defects (ASDs) and ventricular septal defects (VSDs). METHODS: From the Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study (APPROACH-IS), 405 patients (163 Fontan and 242 ASD/VSD) across Asia, Europe, and North America provided consent for access to their medical records and completed a survey evaluating QOL (0 to 100 linear analog scale). Primary CHD diagnosis, disease complexity, surgical history, and documented history of mood and anxiety disorders were recorded. Differences in QOL, medical complications, and mood and anxiety disorders between Fontan and ASD/VSD patients, and across geographic regions, were examined using analysis of covariance. Hierarchical regression analyses were conducted to identify variables associated with the QOL ratings. RESULTS: Patients with a Fontan reported significantly lower QOL, and greater medical complications and mood and anxiety disorders relative to patients with ASD/VSD. Inpatient cardiac admissions, mood disorders, and anxiety disorders were associated with lower QOL among patients with a Fontan, and mood disorders were associated with lower QOL among patients with ASD/VSD. Regional differences for QOL were not observed in patients with a Fontan; however, significant differences were identified in patients with ASD/VSD. CONCLUSIONS: Regional variation of QOL is commonplace in adults with CHD; however, it appears affected by greater disease burden. Among patients with a Fontan, regional variation of QOL is lost. Specific attempts to screen for QOL and mood and anxiety disorders among CHD patients may improve the care of patients with the greatest disease burden.

Red Flags for Maltese Adults with Congenital Heart Disease: Poorer Dental Care and Less Sports Participation Compared to Other European Patients-An APPROACH-IS Substudy.

Studies in recent years have explored lifestyle habits and health-risk behaviours in adult congenital heart disease (ACHD) patients when compared to controls. The aim of this study was to investigate differences in lifestyle habits between Maltese and other European ACHD patients. Data on alcohol consumption, cigarette smoking, substance misuse, dental care and physical activity collected in 2013-2015 during "Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study" (APPROACH-IS) were analysed. Responses from 119 Maltese participants were compared to those of 1616 participants from Belgium, France, Italy, Norway, Sweden, Switzerland and the Netherlands. Significantly fewer Maltese patients with simple (Maltese 84.1% vs. European 97.5%, p < 0.001) and moderately complex CHD (Maltese 83.6% vs. European 97.4%, p < 0.001) brushed their teeth daily. Only 67.2% of Maltese with moderately complex disease had dental reviews in the previous year compared to 80.3% of Europeans (p = 0.02). Maltese patients with simple (Maltese 31.8% vs. European 56.1%, p = 0.002) and moderately complex lesions (Maltese 30.0% vs. European 59.2%, p < 0.001) performed less regular sport activities. Comparison by country showed Maltese patients to have significantly poorer tooth brushing and sports participation than patients from any other participating country. Alcohol consumption, cigarette smoking and substance misuse were not significantly different. This study highlights lifestyle aspects that Maltese ACHD patients need to improve on, which might not be evident upon comparing patients to non-CHD controls. These findings should also caution researchers against considering behaviours among patients in one country as necessarily representative of patients on the larger scale.

Cognitive and psycholologic considerations in pediatric heart failure.

Because children with heart failure live longer both before and after cardiac transplantation, there is renewed focus on the quality and preservation of their intellectual functioning and psychosocial health. Children with chronic heart failure are at risk for delays in both cognitive development and psychologic functioning, though the extent and permanence of impairment is not well understood. Children with medically managed heart failure have been shown to be at increased risk for anxiety and depression, with a prevalence of emotional disorders similar to that of other children with congenital heart disease. The use of ventricular assist devices as a bridge to transplantation offers both risks and benefits for the preservation of intellectual and emotional function, with an increased risk for ischemic injury to the brain, but offers the advantage of allowing for cognitive stimulation and improved social interactions. A new population of children with heart failure, those outfitted with permanent ventricular assist devices in lieu of cardiac transplantation, may represent a particular risk group regarding social and cognitive function, but as of yet this is not well studied. Early intervention and school accommodations are recommended for those with cognitive, social, or emotional deficits, and brain imaging should be considered for those with persistent difficulties. Whenever possible, patients should be referred to psychologists and developmental specialists with experience in treating this patient population.

The impact of actual and perceived disease severity on pre-operative psychological well-being and illness behaviour in adult congenital heart disease patients.

OBJECTIVES: The purpose of this study was to investigate whether the objective medical parameters related to congenital heart disease and patients' ratings of cardiac disease severity were related to psychological well-being and illness behaviour during the pre-operative period. METHODS: A total of 143 patients (63 male patients; 16-73 years old) with congenital heart disease evaluated the severity of their cardiac condition using a numerical rating scale ranging from 0, indicating the least severe condition, to 100, indicating the most severe condition. Psychological well-being was assessed using the Psychological General Well-Being Index (total score ≤ 60 indicating severe distress) and illness behaviour using the Illness Behavior Questionnaire. RESULTS: Pre-operative psychological well-being was not related to the objective medical parameters reflecting cardiac disease severity. In contrast, total psychological well-being scores correlated significantly with patients' subjective ratings of disease severity (p < 0.001). When compared with the reference values from the Italian population, the mean scores of the patients on psychological well-being were similar. As regards the Illness Behavior Questionnaire, the scores on denial were higher and those on hypochondria were lower compared with other hospitalised patients. CONCLUSIONS: This study shows that the perception of cardiac disease severity, and not the medical parameters in congenital heart disease, is related to the patients' pre-operative psychological state. Thus, more importance needs to be given to assessing the patients' pre-operative perception and psychological state independently of cardiac severity. Targeted interventions with regard to the cardiac condition are recommended.

Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.

Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17-47%) and depression levels (8.3-28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC.

Anxiety and Depression in Adults With Congenital Heart Disease.

BACKGROUND: A comprehensive understanding of adult congenital heart disease outcomes must include psychological functioning. Our multisite study offered the opportunity to explore depression and anxiety symptoms within a global sample. OBJECTIVES: In this substudy of the APPROACH-IS (Assessment of Patterns of Patient-Reported Outcomes in Adults With Congenital Heart Disease-International Study), the authors we investigated the prevalence of elevated depression and anxiety symptoms, explored associated sociodemographic and medical factors, and examined how quality of life (QOL) and health status (HS) differ according to the degree of psychological symptoms. METHODS: Participants completed the Hospital Anxiety and Depression Scale, which includes subscales for symptoms of anxiety (HADS-A) and depression (HADS-D). Subscale scores of 8 or higher indicate clinically elevated symptoms and can be further categorized as mild, moderate, or severe. Participants also completed analogue scales on a scale of 0 to 100 for QOL and HS. Analysis of variance was performed to investigate whether QOL and HS differed by symptom category. RESULTS: Of 3,815 participants from 15 countries (age 34.8 ± 12.9 years; 52.7% female), 1,148 (30.1%) had elevated symptoms in one or both subscales: elevated HADS-A only (18.3%), elevated HADS-D only (2.9%), or elevations on both subscales (8.9%). Percentages varied among countries. Both QOL and HS decreased in accordance with increasing HADS-A and HADS-D symptom categories (P < 0.001). CONCLUSIONS: In this global sample of adults with congenital heart disease, almost one-third reported elevated symptoms of depression and/or anxiety, which in turn were associated with lower QOL and HS. We strongly advocate for the implementation of strategies to recognize and manage psychological distress in clinical settings. (Patient-Reported Outcomes in Adults With Congenital Heart Disease [APPROACH-IS]; NCT02150603).

Frailty and Cognitive Function in Middle-Aged and Older Adults With Congenital Heart Disease.

BACKGROUND: Life expectancy of patients with congenital heart disease (CHD) has increased rapidly, resulting in a growing and aging population. Recent studies have shown that older people with CHD have higher morbidity, health care use, and mortality. To maintain longevity and quality of life, understanding their evolving medical and psychosocial challenges is essential. OBJECTIVES: The authors describe the frailty and cognitive profile of middle-aged and older adults with CHD to identify predictor variables and to explore the relationship with hospital admissions and outpatient visits. METHODS: Using a cross-sectional, multicentric design, we included 814 patients aged ≥40 years from 11 countries. Frailty phenotype was determined using the Fried method. Cognitive function was assessed by the Montreal Cognitive Assessment. RESULTS: In this sample, 52.3% of patients were assessed as robust, 41.9% as prefrail, and 5.8% as frail; 38.8% had cognitive dysfunction. Multinomial regression showed that frailty was associated with older age, female sex, higher physiologic class, and comorbidities. Counterintuitively, patients with mild heart defects were more likely than those with complex lesions to be prefrail. Patients from middle-income countries displayed more prefrailty than those from higher-income countries. Logistic regression demonstrated that cognitive dysfunction was related to older age, comorbidities, and lower country-level income. CONCLUSIONS: Approximately one-half of included patients were (pre-)frail, and more than one-third experienced cognitive impairment. Frailty and cognitive dysfunction were identified in patients with mild CHD, indicating that these concerns extend beyond severe CHD. Assessing frailty and cognition routinely could offer valuable insights into this aging population.

COVID-19 Vaccine Hesitancy in Italian Adults with Marfan Syndrome: Insights from a Secondary Analysis of a Cross-Sectional Study.

Although vaccine hesitancy has been reported in many patient groups and countries, there is a lack of data on vaccine hesitancy in patients with Marfan syndrome (MFS). MFS is a rare genetic disorder that can lead to cardiovascular, ocular, and musculoskeletal issues. Because MFS patients may face an increased risk of COVID-19 complications, vaccination is crucial for this population. This brief report aims to describe vaccine hesitancy rates in MFS patients and compare the characteristics of patients who are hesitant and those who are not to gain a better understanding of this specific population. This study analyzes previously published cross-sectional data that examined mental health, sociodemographic, and clinical factors associated with PTSD, depression, anxiety, and insomnia in MFS patients during the third wave of the COVID-19 pandemic in Lombardy, Italy. Of the 112 MFS patients who participated, 26 (23.9%) reported vaccine hesitancy. Vaccine hesitancy may be associated mainly with younger age and not be related to other patient characteristics. Therefore, this report found no differences in individual-level variables, such as sex, education, comorbidities, and mental health symptoms, between those who were hesitant and those who were not. The study findings are insightful and suggest that interventions to address vaccine hesitancy in this population may need to focus on attitudes and beliefs related to vaccination rather than targeting specific sociodemographic or clinical factors.

Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.

Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. The aim of this review is to summarize the latest MFS evidence regarding the definition, differences and similarities with other connective tissue pathologies with severe systemic phenotypes (e.g., Autosomal dominant Weill-Marchesani syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome) and clinical assessment. In this regard, the management of MFS requires a multidisciplinary team in order to accurately control the evolution of the most severe and potentially life-threatening complications. Based on recent findings in the literature and our clinical experience, we propose a multidisciplinary approach involving specialists in different clinical fields (i.e., cardiologists, surgeons, ophthalmologists, orthopedics, pneumologists, neurologists, endocrinologists, geneticists, and psychologists) to comprehensively characterize, treat, and manage MFS patients with a personalized medicine approach.

Characterization of cardiovascular and cerebrovascular controls via spectral causality analysis in patients undergoing surgical aortic valve replacement during a three-month follow-up.

Objective.Aortic valve stenosis (AVS) induces left ventricular function adaptations and surgical aortic valve replacement (SAVR) restores blood flow profile across aortic valve. Modifications of cardiac hemodynamics induced by AVS and SAVR might alter cardiovascular (CV) and cerebrovascular (CBV) controls. The study aims at characterizing CV and CBV regulations one day before SAVR (PRE), within one week after SAVR (POST), and after a three-month follow-up (POST3) in 73 AVS patients (age: 63.9 ± 12.9 yrs; 48 males, 25 females) from spontaneous fluctuations of heart period (HP), systolic arterial pressure, mean arterial pressure and mean cerebral blood velocity.Approach.CV and CBV regulations were typified via a bivariate autoregressive approach computing traditional frequency domain markers and causal squared coherence (CK2) from CV and CBV variabilities. Univariate time and frequency domain indexes were calculated as well. Analyses were carried out in frequency bands typical of CV and CBV controls at supine rest and during active standing. A surrogate method was exploited to check uncoupling condition.Main results.We found that: (i) CV regulation is impaired in AVS patients; (ii) CV regulation worsens in POST; (iii) CV regulation recovers in POST3 and CV response to active standing is even better than in PRE; (iv) CBV regulation is preserved in AVS patients; (v) SAVR does not affect CBV control; (vi) parameters of the CBV control in POST3 and PRE are similar.Significance.CK2is particularly useful to characterize CV and CBV controls in AVS patients and to monitor of patient's evolution after SAVR.

Patient-reported outcomes in the aging population of adults with congenital heart disease: results from APPROACH-IS.

The congenital heart disease (CHD) population now comprises an increasing number of older persons in their 6th decade of life and beyond. We cross-sectionally evaluated patient-reported outcomes (PROs) in persons with CHD aged 60 years or older, and contrasted these with PROs of younger patients aged 40-59 years and 18-39 years. Adjusted for demographic and medical characteristics, patients ≥60 years had a lower Physical Component Summary, higher Mental Component Summary, and lower anxiety (Hospital Anxiety and Depression Scale-Anxiety) scores than patients in the two younger categories. For satisfaction with life, older persons had a higher score than patients aged 40-59 years. Registration: ClinicalTrials.gov NCT02150603.