A. Scarà, Z. Palamà, A. G. Robles, L. Dei, A. Borrelli, Federico Zanin, Leonardo Pignalosa, Silvio Romano, Luigi Sciarra
{"title":"Non-Pharmacological Treatment of Heart Failure-From Physical Activity to Electrical Therapies: A Literature Review.","authors":"A. Scarà, Z. Palamà, A. G. Robles, L. Dei, A. Borrelli, Federico Zanin, Leonardo Pignalosa, Silvio Romano, Luigi Sciarra","doi":"10.3390/jcdd11040122","DOIUrl":"https://doi.org/10.3390/jcdd11040122","url":null,"abstract":"Heart failure (HF) represents a significant global health challenge that is still responsible for increasing morbidity and mortality despite advancements in pharmacological treatments. This review investigates the effectiveness of non-pharmacological interventions in the management of HF, examining lifestyle measures, physical activity, and the role of some electrical therapies such as catheter ablation, cardiac resynchronization therapy (CRT), and cardiac contractility modulation (CCM). Structured exercise training is a cornerstone in this field, demonstrating terrific improvements in functional status, quality of life, and mortality risk reduction, particularly in patients with HF with reduced ejection fraction (HFrEF). Catheter ablation for atrial fibrillation, premature ventricular beats, and ventricular tachycardia aids in improving left ventricular function by reducing arrhythmic burden. CRT remains a key intervention for selected HF patients, helping achieve left ventricular reverse remodeling and improving symptoms. Additionally, the emerging therapy of CCM provides a novel opportunity for patients who do not meet CRT criteria or are non-responders. Integrating non-pharmacological interventions such as digital health alongside specific medications is key for optimizing outcomes in HF management. It is imperative to tailor approaches to individual patients in this diverse patient population to maximize benefits. Further research is warranted to improve treatment strategies and enhance patient outcomes in HF management.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"87 S370","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140694253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Raffaele Buganza, Giulia Massini, M. D. Di Taranto, G. Cardiero, Luisa de Sanctis, O. Guardamagna
{"title":"Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.","authors":"Raffaele Buganza, Giulia Massini, M. D. Di Taranto, G. Cardiero, Luisa de Sanctis, O. Guardamagna","doi":"10.3390/jcdd11040123","DOIUrl":"https://doi.org/10.3390/jcdd11040123","url":null,"abstract":"BACKGROUND\u0000The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available. Moreover, the application of diagnostic scores, useful in adults, is poorly applied in children. The aim of this study was to compare the reliability of criteria here applied with different scores, apart from genetic analysis, for FH diagnosis. The latter was then confirmed by genetic analysis.\u0000\u0000\u0000METHODS\u0000n. 180 hypercholesterolemic children (age 10.2 ± 4.6 years) showing LDL-C levels ≥95th percentile (age- and sex-related), the dominant inheritance pattern of hypercholesterolemia (including LDL-C ≥95th percentile in one parent), were considered potentially affected by FH and included in the study. The molecular analysis of the LDLR, APOB and PCSK9 genes was applied to verify the diagnostic accuracy. Biochemical and family history data were also retrospectively categorized according to European Atherosclerosis Society (EAS), Simon Broome Register (SBR), Pediatric group of the Italian LIPIGEN (LIPIGEN-FH-PED) and Dutch Lipid Clinic Network (DLCN) criteria. Detailed kindred biochemical and clinical assessments were extended to three generations. The lipid profile was detected by standard laboratory kits, and gene analysis was performed by traditional sequencing or Next-Generation Sequencing (NGS).\u0000\u0000\u0000RESULTS\u0000Among 180 hypercholesterolemic subjects, FH suspected based on the above criteria, 164/180 had the diagnosis confirmed, showing causative mutations. The mutation detection rate (MDR) was 91.1%. The scoring criteria proposed by the EAS, SBR and LIPIGEN-FH-PED (resulting in high probable, possible-defined and probable-defined, respectively) showed high sensitivity (~90%), low specificity (~6%) and high MDR (~91%). It is noteworthy that their application, as a discriminant for the execution of the molecular investigation, would lead to a loss of 9.1%, 9.8% and 9.1%, respectively, of FH-affected patients, as confirmed by the genetic analysis. DLCN criteria, for which LDL-C cut-offs are not specific for childhood, would lead to a loss of 53% of patients with mutations.\u0000\u0000\u0000CONCLUSIONS\u0000In the pediatric population, the combination of LDL-C ≥95th percentile in the proband and the dominant inheritance pattern of hypercholesterolemia, with LDL-C ≥95th percentile in one parent, is a simple, useful and effective diagnostic criterion, showing high MDR. This pattern is crucial for early FH diagnosis. EAS, SBR and LIPIGEN-FH-PED criteria can underestimate the real number of patients with gene mutations and cannot be considered strictly discriminant for the execution of molecular analysis.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"18 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140693117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joana Ferreira, A. Longatto-Filho, Julieta Afonso, Susana Roque, A. Carneiro, I. Vila, Cristina Silva, C. Cunha, A. Mesquita, Jorge Cotter, Margarida Correia-Neves, A. Mansilha, Pedro Cunha
{"title":"Inflammatory Cells in Adipose Tissue and Skeletal Muscle of Patients with Peripheral Arterial Disease or Chronic Venous Disease: A Prospective, Observational, and Histological Study.","authors":"Joana Ferreira, A. Longatto-Filho, Julieta Afonso, Susana Roque, A. Carneiro, I. Vila, Cristina Silva, C. Cunha, A. Mesquita, Jorge Cotter, Margarida Correia-Neves, A. Mansilha, Pedro Cunha","doi":"10.3390/jcdd11040121","DOIUrl":"https://doi.org/10.3390/jcdd11040121","url":null,"abstract":"The main goal of this study was to assess whether the presence of peripheral arterial disease (PAD) correlates with increased inflammatory cell infiltration. An observational, single-centre, and prospective study was conducted from January 2018 to July 2022. Clinical characteristics and anthropometric measures were registered. Consecutive PAD patients with surgical indications for a common femoral artery approach and patients with varicose veins with an indication for surgical ligation of the saphenofemoral junction were included. In both groups, samples of sartorius skeletal muscle, subcutaneous adipose tissue (SAT), and perivascular adipose tissue (PVAT) were collected from the femoral region. We analysed the characteristics of adipocytes and the presence of haemorrhage and inflammatory cells in the samples of PVAT and SAT via haematoxylin-eosin staining. We found that patients with PAD had significantly more inflammatory cells in PVAT [16 (43.24%) vs. 0 (0%) p = 0.008]. Analysing SAT histology, we observed that patients with PAD had significantly more CD45+ leucocytes upon immunohistochemical staining [32 (72.73%) vs. 3 (27.27%) p = 0.005]. Upon analysing skeletal muscle histology with haematoxylin-eosin staining, we evaluated skeletal fibre preservation, as well as the presence of trauma, haemorrhage, and inflammatory cells. We registered a significantly higher number of inflammatory cells in patients with PAD [well-preserved skeletal fibres: PAD = 26 (63.41%) vs. varicose veins = 3 (37.50%) p = 0.173; trauma: PAD = 4 (9.76%) vs. varicose veins = 2 (25.00%) p = 0.229; haemorrhage: PAD = 6 (14.63%) vs. varicose veins = 0 (0%) p = 0.248; inflammatory cells: PAD = 18 (43.90%) vs. varicose veins = 0 (0%) p = 0.018]. Patients with PAD had a higher number of inflammatory cells in skeletal muscle and adipose tissue (PVAT and SAT) when compared with those with varicose veins, emphasizing the role of inflammation in this group of patients.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"23 29","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140696512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Jurin, A. Jurišić, I. Rudež, Ena Kurtić, Ivana Škorić, Tomislav Čikara, Tomislav Šipić, D. Rudan, Š. Manola, I. Hadžibegović
{"title":"Outcomes of Patients with Normal LDL-Cholesterol at Admission for Acute Coronary Syndromes: Lower Is Not Always Better.","authors":"I. Jurin, A. Jurišić, I. Rudež, Ena Kurtić, Ivana Škorić, Tomislav Čikara, Tomislav Šipić, D. Rudan, Š. Manola, I. Hadžibegović","doi":"10.3390/jcdd11040120","DOIUrl":"https://doi.org/10.3390/jcdd11040120","url":null,"abstract":"BACKGROUND AND AIM\u0000There are few prospective data on the prognostic value of normal admission low-density lipoprotein cholesterol (LDL-C) in statin-naïve patients with acute coronary syndromes (ACS) who are treated with a preemptive invasive strategy. We aimed to analyze the proportion of patients with normal LDL-C at admission for ACS in our practice, and their characteristics and clinical outcomes in comparison to patients with high admission LDL-C.\u0000\u0000\u0000PATIENTS AND METHODS\u0000Two institutions' prospective registries of patients with confirmed ACS from Jan 2017 to Jan 2023 were used to identify 1579 statin-naïve patients with no history of prior coronary artery disease (CAD), and with available LDL-C admission results, relevant clinical and procedural data, and short- and long-term follow-up data. Normal LDL-C at admission was defined as lower than 2.6 mmol/L. All demographic, clinical, procedural, and follow-up data were compared between patients with normal LDL-C and patients with a high LDL-C level (≥2.6 mmol/L) at admission.\u0000\u0000\u0000RESULTS\u0000There were 242 (15%) patients with normal LDL-C at admission. In comparison to patients with high LDL-cholesterol at admission, they were significantly older (median 67 vs. 62 years) with worse renal function, had significantly more cases of diabetes mellitus (DM) (26% vs. 17%), peripheral artery disease (PAD) (14% vs. 9%), chronic obstructive pulmonary disease (COPD) (8% vs. 2%), and psychological disorders requiring medical attention (19% vs. 10%). There were no significant differences in clinical type of ACS. Complexity of CAD estimated by coronary angiography was similar between the two groups (median Syntax score 12 for both groups). There were no significant differences in rates of complete revascularization (67% vs. 72%). Patients with normal LDL-C had significantly lower left ventricular ejection fraction (LVEF) at discharge (median LVEF 52% vs. 55%). Patients with normal LDL-C at admission had both significantly higher in-hospital mortality (5% vs. 2%, RR 2.07, 95% CI 1.08-3.96) and overall mortality during a median follow-up of 43 months (27% vs. 14%, RR 1.86, 95% CI 1.45-2.37). After adjusting for age, renal function, presence of diabetes mellitus, PAD, COPD, psychological disorders, BMI, and LVEF at discharge in a multivariate Cox regression analysis, normal LDL-C at admission remained significantly and independently associated with higher long-term mortality during follow-up (RR 1.48, 95% CI 1.05-2.09).\u0000\u0000\u0000CONCLUSIONS\u0000A spontaneously normal LDL-C level at admission for ACS in statin-naïve patients was not rare and it was an independent risk factor for both substantially higher in-hospital mortality and mortality during long-term follow-up. Patients with normal LDL-C and otherwise high total cardiovascular risk scores should be detected early and treated with optimal medical therapy. However, additional research is needed to reveal all the missing pieces in their survival puzzle after ACS-beyond coronary","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"52 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140702521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Akbar, A. Zhou, Annie Wang, Amy S. N. Feng, A. Rizaldi, J. Ruck, Ahmet Kilic
{"title":"Special Considerations for Advanced Heart Failure Surgeries: Durable Left Ventricular Devices and Heart Transplantation.","authors":"A. Akbar, A. Zhou, Annie Wang, Amy S. N. Feng, A. Rizaldi, J. Ruck, Ahmet Kilic","doi":"10.3390/jcdd11040119","DOIUrl":"https://doi.org/10.3390/jcdd11040119","url":null,"abstract":"Heart transplantation and durable left ventricular assist devices (LVADs) represent two definitive therapies for end-stage heart failure in the modern era. Despite technological advances, both treatment modalities continue to experience unique risks that impact surgical and perioperative decision-making. Here, we review special populations and factors that impact risk in LVAD and heart transplant surgery and examine critical decisions in the management of these patients. As both heart transplantation and the use of durable LVADs as destination therapy continue to increase, these considerations will be of increasing relevance in managing advanced heart failure and improving outcomes.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"77 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140702425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Moaz A. Kamel, Mohammed Tiseer Abbas, Christopher N. Kanaan, Kamal A. Awad, Nima Baba Ali, Isabel G. Scalia, J. M. Farina, Milagros Pereyra, Ahmed K. Mahmoud, D. Steidley, Julie L Rosenthal, Chadi Ayoub, R. Arsanjani
{"title":"How Artificial Intelligence Can Enhance the Diagnosis of Cardiac Amyloidosis: A Review of Recent Advances and Challenges.","authors":"Moaz A. Kamel, Mohammed Tiseer Abbas, Christopher N. Kanaan, Kamal A. Awad, Nima Baba Ali, Isabel G. Scalia, J. M. Farina, Milagros Pereyra, Ahmed K. Mahmoud, D. Steidley, Julie L Rosenthal, Chadi Ayoub, R. Arsanjani","doi":"10.3390/jcdd11040118","DOIUrl":"https://doi.org/10.3390/jcdd11040118","url":null,"abstract":"Cardiac amyloidosis (CA) is an underdiagnosed form of infiltrative cardiomyopathy caused by abnormal amyloid fibrils deposited extracellularly in the myocardium and cardiac structures. There can be high variability in its clinical manifestations, and diagnosing CA requires expertise and often thorough evaluation; as such, the diagnosis of CA can be challenging and is often delayed. The application of artificial intelligence (AI) to different diagnostic modalities is rapidly expanding and transforming cardiovascular medicine. Advanced AI methods such as deep-learning convolutional neural networks (CNNs) may enhance the diagnostic process for CA by identifying patients at higher risk and potentially expediting the diagnosis of CA. In this review, we summarize the current state of AI applications to different diagnostic modalities used for the evaluation of CA, including their diagnostic and prognostic potential, and current challenges and limitations.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140708625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Schvartz, Arian Haidary, Reza Wakili, Florian Hecker, J. Kupusovic, E. Zsigmond, M. Miklos, László Sághy, Tamas Szili-Torok, J. Erath, M. Vámos
{"title":"Risk of Cardiac Implantable Electronic Device Infection after Early versus Delayed Lead Repositioning.","authors":"N. Schvartz, Arian Haidary, Reza Wakili, Florian Hecker, J. Kupusovic, E. Zsigmond, M. Miklos, László Sághy, Tamas Szili-Torok, J. Erath, M. Vámos","doi":"10.3390/jcdd11040117","DOIUrl":"https://doi.org/10.3390/jcdd11040117","url":null,"abstract":"(1) Background: Early reintervention increases the risk of infection of cardiac implantable electronic devices (CIEDs). Some operators therefore delay lead repositioning in the case of dislocation by weeks; however, there is no evidence to support this practice. The aim of our study was to evaluate the impact of the timing of reoperation on infection risk. (2) Methods: The data from consecutive patients undergoing lead repositioning in two European referral centers were retrospectively analyzed. The odds ratio (OR) of CIED infection in the first year was compared among patients undergoing early (≤1 week) vs. delayed (>1 week to 1 year) reoperation. (3) Results: Out of 249 patients requiring CIED reintervention, 85 patients (34%) underwent an early (median 2 days) and 164 (66%) underwent a delayed lead revision (median 53 days). A total of nine (3.6%) wound/device infections were identified. The risk of infection was numerically lower in the early (1.2%) vs. delayed (4.9%) intervention group yielding no statistically significant difference, even after adjustment for typical risk factors for CIED infection (adjusted OR = 0.264, 95% CI 0.032-2.179, p = 0.216). System explantation/extraction was necessary in seven cases, all being revised in the delayed group. (4) Conclusions: In this bicentric, international study, delayed lead repositioning did not reduce the risk of CIED infection.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"13 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140725421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Noordman, M. Rienstra, Y. Blaauw, B. Mulder, Alexander H. Maass
{"title":"Sex Differences in Outcomes of Patients with an Implantable Cardioverter-Defibrillator for the Secondary Prevention of Sudden Cardiac Death.","authors":"A. Noordman, M. Rienstra, Y. Blaauw, B. Mulder, Alexander H. Maass","doi":"10.3390/jcdd11040116","DOIUrl":"https://doi.org/10.3390/jcdd11040116","url":null,"abstract":"Background: In patients with an implantable cardioverter-defibrillator (ICD) for secondary prevention, sex differences may exist in clinical outcomes. We sought to investigate sex differences in appropriate ICD therapy, appropriate and inappropriate shock, and all-cause mortality in this patient population. Methods: A total of 257 patients who received an ICD for a secondary prevention indication in the University Medical Centre Groningen (UMCG) between 1 January 2012 and 31 December 2018 were retrospectively included in a consecutive manner. Appropriate ICD therapy, comprising shock and antitachycardia pacing (ATP) for ventricular fibrillation (VF) or ventricular tachycardia (VT), was the primary outcome. Results: The patient population included 257 patients, of whom 45 (18%) were women and 212 (82%) were men. The median of the age was 64 (interquartile range (IQR) 53-72) years. During follow-up (median duration 6.2 (IQR 4.8-7.8) years), first appropriate device therapy took place in 10 (22%) patients for women and 85 (40%) patients for men. Female sex was negatively associated with the rate of appropriate ICD therapy, univariably (hazard ratio (HR) 0.48 [95% confidence interval (CI) 0.25-0.93]; p = 0.030) and multivariably (HR 0.44 [95% CI 0.20-0.95]; p = 0.036). Conclusions: Women with secondary prevention ICDs were less likely than men to receive appropriate ICD therapy.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"26 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140738792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Baban, G. Parlapiano, M. Cicenia, M. Armando, A. Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, A. Romanzo, A. Fusco, M. Caiazza, Gianluigi Perri, Lorenzo Galletti, M. Digilio, P. Buonuomo, A. Bartuli, A. Novelli, M. Raponi, Giuseppe Limongelli
{"title":"Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.","authors":"A. Baban, G. Parlapiano, M. Cicenia, M. Armando, A. Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, A. Romanzo, A. Fusco, M. Caiazza, Gianluigi Perri, Lorenzo Galletti, M. Digilio, P. Buonuomo, A. Bartuli, A. Novelli, M. Raponi, Giuseppe Limongelli","doi":"10.3390/jcdd11040114","DOIUrl":"https://doi.org/10.3390/jcdd11040114","url":null,"abstract":"Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"208 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140748381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonella Galeone, Annalisa Bernabei, Gabriele Pesarini, Marcello Raimondi Lucchetti, F. Onorati, G. B. Luciani
{"title":"Ten-Year Experience with Endomyocardial Biopsy after Orthotopic Heart Transplantation: Comparison between Trans-Jugular and Trans-Femoral Approach.","authors":"Antonella Galeone, Annalisa Bernabei, Gabriele Pesarini, Marcello Raimondi Lucchetti, F. Onorati, G. B. Luciani","doi":"10.3390/jcdd11040115","DOIUrl":"https://doi.org/10.3390/jcdd11040115","url":null,"abstract":"BACKGROUND\u0000Endomyocardial biopsy (EMB) is considered the gold standard for monitoring allograft rejection after heart transplantation. EMB is an invasive procedure that may be performed via a trans-jugular or a trans-femoral approach with a complication rate reported as less than 6%. The aim of this study was to evaluate the complication rate after EMBs in heart recipients and to compare the results of EMBs performed via a trans-jugular or a trans-femoral approach.\u0000\u0000\u0000METHODS\u0000Medical records of heart recipients undergoing EMBs between January 2012 and December 2022 were retrospectively reviewed. EMB-related complications were classified as major (death, pericardial effusion, hemopericardium, cardiac tamponade requiring a pericardiocentesis or an urgent cardiac surgery, ventricular arrythmias, permanent atrio-ventricular block requiring permanent pacing, hemothorax, pneumothorax and retroperitoneal bleeding) and minor (de novo tricuspid regurgitation, arrhythmias, coronary artery fistula, vascular access site complications).\u0000\u0000\u0000RESULTS\u0000A total of 1698 EMBs were performed during the study period at our institution in 212 heart recipients. There were 927 (55%) EMBs performed through a trans-jugular approach (TJ group) and 771 (45%) EMBs performed through a trans-femoral approach (TF group). A total of 60 (3.5%) complications were recorded, including nine (0.5%) major complications (six cardiac tamponades, two pneumothorax and one retroperitoneal bleeding) and 51 (3%) minor complications (seven coronary fistulae, five de novo tricuspid regurgitation, four supraventricular arrythmias and thirty-five vascular access site complications). No difference was found in total (38 [4%] vs. 22 [3%]; p = 0.16) and major (6 [1%} vs. 3 [0.4%]; p = 0.65) complications (32 [3%] vs. 19 [2%]; p = 0.23) between the TJ group and the TF group. No difference was found in male sex, age at time of EMB and time from HT between complicated and not complicated EMBs.\u0000\u0000\u0000CONCLUSIONS\u0000EMBs represent a safe procedure with a low risk of complications. In our experience, EMBs performed via a trans-jugular approach are as safe as the trans-femoral approach.","PeriodicalId":502527,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"372 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140749868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}