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Keywords = acute mitral regurgitation

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12 pages, 5963 KiB  
Case Report
Successful Management of a Posterior Post-Infarction Ventricular Septal Defect and Mitral Regurgitation with Delayed Surgery—A Case Report and Overview of the Literature
by Mihai Ștefan, Mircea Robu, Cornelia Predoi, Răzvan Ilie Radu and Daniela Filipescu
Reports 2025, 8(2), 87; https://doi.org/10.3390/reports8020087 - 4 Jun 2025
Viewed by 900
Abstract
Background and Clinical Significance: Ventricular septal defect (VSD) is a rare but serious complication following myocardial infarction (MI) that can lead to cardiogenic shock and carries a high mortality rate. Acute mitral regurgitation (MR) is another severe complication of MI with additional risks [...] Read more.
Background and Clinical Significance: Ventricular septal defect (VSD) is a rare but serious complication following myocardial infarction (MI) that can lead to cardiogenic shock and carries a high mortality rate. Acute mitral regurgitation (MR) is another severe complication of MI with additional risks of mortality. The optimal timing of surgical intervention for VSD with MR is still being debated, and delaying surgery in medically manageable patients has been associated with improved survival. However, managing these patients in the intensive care unit (ICU) presents unique challenges. Case Presentation: In this paper, we present the case of a 52-year-old male with comorbidities who developed post-MI VSD with severe MR and underwent successful delayed surgical repair and mitral valve replacement. Our aim is to highlight the clinical characteristics, diagnostic approach, and management strategies of this rare complication in the critical care setting. The patient presented in cardiogenic shock and acute pulmonary edema. After stabilization using an intra-aortic balloon pump, pre- and afterload reducing pharmacotherapy and non-invasive mechanical ventilation, a watchful waiting strategy was employed, and surgery was performed on day 21 after hospital admission. Surgery was performed under general anesthesia, and the patient did not develop any complications related to the intra-aortic balloon pump or novel organ dysfunction. Conclusions: This case highlights the importance of a multidisciplinary approach to managing post-MI VSD with MR and emphasizes the need for careful patient selection and timing of surgical intervention in the critical care setting. Clinicians should be aware of the potential benefits of delaying surgical intervention in medically manageable patients, while also considering the unique challenges of managing these patients in the ICU. Full article
(This article belongs to the Section Cardiology/Cardiovascular Medicine)
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19 pages, 1115 KiB  
Systematic Review
One-Stop Mitral Valve Transcatheter Edge-to-Edge Repair and Left Atrial Appendage Occlusion in Patients with Atrial Fibrillation and Mitral Regurgitation: A Systematic Review and Meta-Analysis
by Konstantinos Pamporis, Dimitrios Tsiachris, Konstantinos Grigoriou, Paschalis Karakasis, Ioannis Doundoulakis, Panagiotis Theofilis, Panagiotis Kouvatsos, Athanasios Saplaouras, Athanasios Kordalis, Aikaterini-Eleftheria Karanikola, Panagiotis Antonios Goutis and Konstantinos Tsioufis
J. Pers. Med. 2025, 15(5), 197; https://doi.org/10.3390/jpm15050197 - 14 May 2025
Viewed by 694
Abstract
Background/Objectives: Patients with atrial fibrillation and mitral regurgitation (MR) undergoing transcatheter edge-to-edge mitral valve repair (M-TEER) often have concomitant indications for left atrial appendage occlusion (LAAO), mandating a more personalized treatment approach. This study aimed to examine the effectiveness and safety of [...] Read more.
Background/Objectives: Patients with atrial fibrillation and mitral regurgitation (MR) undergoing transcatheter edge-to-edge mitral valve repair (M-TEER) often have concomitant indications for left atrial appendage occlusion (LAAO), mandating a more personalized treatment approach. This study aimed to examine the effectiveness and safety of combining M-TEER/LAAO in one procedure. Methods: MEDLINE (PubMed), Scopus, and Cochrane were searched through 21 March 2025 for studies examining M-TEER/LAAO with or without control (M-TEER only). Double-independent study selection, extraction, and quality assessments were performed. Frequentist random-effects models were used to calculate mean differences (MDs) and risk ratios (RRs) with 95% confidence intervals (CIs). Results: Seven studies (223 participants) were included. For M-TEER/LAAO, the mean procedural time was 101.6 min (95% CI = [85.06, 118.13]), the mean radiation time was 29.97 min (95% CI = [23.85, 36.09]), the mean length of stay was 5.21 days (95% CI = [3.31, 7.12]), procedural success was achieved in 89.5% of cases (95% CI = [73.4, 96.3], and post-procedure MR > 2+ occurred in 14.8% of cases (95% CI = [3.6, 44.5]). Compared to M-TEER only, patients with M-TEER/LAAO had similar procedural (RR = 0.91, 95% CI = [0.71, 1.17]) and technical success (RR = 1, 95% CI = [0.94, 1.06]) with a similar risk of acute kidney injury (RR = 1, 95% CI = [0.07, 15.12]), bleeding (RR = 0.40, 95% CI = [0.01, 18.06]), and all-cause death (RR = 0.59, 95% CI = [0.22, 1.54]). M-TEER/LAAO was non-significantly associated with in-hospital death (RR = 3, 95% CI = [0.13, 70.23]), stroke (RR = 3, 95% CI = [0.13, 70.23]), and vascular complications (RR = 1.55, 95% CI = [0.43, 5.59]) compared to M-TEER only. Most patients (34.2%, 95% CI = [2.8, 90.4]) received dual antiplatelet therapy at discharge, followed by anticoagulation only (20.2%, 95% CI = [7.5, 44.3]). Conclusions: M-TEER/LAAO can be combined into a single procedure with good peri-procedural outcomes. Safety was also satisfactory; however, some concerns may arise regarding in-hospital death, stroke, and vascular complications. Further research is needed to explore the effectiveness and safety of this combined strategy and elucidate the risk–benefit profile of this personalized treatment approach. Full article
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9 pages, 1563 KiB  
Case Report
High Profile Transvalvular Pump Assisted Recovery for Takotsubo Cardiomyopathy: A Case Series
by Jordan Young, Patrick McGrade, Jaime Hernandez-Montfort and Jerry Fan
J. Clin. Med. 2025, 14(9), 3225; https://doi.org/10.3390/jcm14093225 - 6 May 2025
Viewed by 617
Abstract
Background: Stress-induced cardiomyopathy (SI-CM) is a transient left ventricular dysfunction triggered by emotional or physical stress, often resolving with supportive care. However, severe cases may progress to cardiogenic shock (CS), requiring mechanical circulatory support (MCS). High-profile transvalvular pumps (HPTP), a form of percutaneous [...] Read more.
Background: Stress-induced cardiomyopathy (SI-CM) is a transient left ventricular dysfunction triggered by emotional or physical stress, often resolving with supportive care. However, severe cases may progress to cardiogenic shock (CS), requiring mechanical circulatory support (MCS). High-profile transvalvular pumps (HPTP), a form of percutaneous ventricular assist device, offer promising hemodynamic support in acute heart failure. This report explores HPTP use in SI-CM-related CS through two complex clinical cases. Case Summary: Two elderly female patients presented with severe CS secondary to apical-variant SI-CM. Case 1 involved a 67-year-old woman with sepsis, colonic perforation, and recurrent SI-CM, leading to profound low-output shock despite multiple vasopressors and inotropes. HPTP was implanted via the axillary artery, allowing for surgical management of intra-abdominal pathology and eventual cardiac recovery. Case 2 featured a 77-year-old woman with multifocal pneumonia, severe mitral regurgitation, and complete heart block. HPTP implantation stabilized her hemodynamics, facilitated extubation, and led to full recovery of ventricular function. Results: Both patients showed marked improvement in cardiac output and systemic perfusion following HPTP insertion. Echocardiograms post-device removal revealed normalization of left ventricular ejection fraction (55–64%). Hemodynamic data confirmed reduced pulmonary capillary wedge pressure and systemic vascular resistance. Conclusion: These cases highlight the potential of HPTP in managing SI-CM-related CS, especially when traditional therapies are inadequate or contraindicated. HPTP can rapidly restore hemodynamic stability and support myocardial recovery. While current data are limited, these observations underscore the need for broader investigation into the role of HPTP in this setting. Full article
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14 pages, 1618 KiB  
Review
MitraClip Procedure in Advanced Heart Failure and Severe Mitral Regurgitation: Case Report and Literature Review
by Camilla Cirelli, Anna Merlo, Alice Calabrese, Luca Fazzini, Luigi Fiocca, Michele Senni, Massimo Iacoviello and Mauro Gori
J. Clin. Med. 2025, 14(3), 1011; https://doi.org/10.3390/jcm14031011 - 5 Feb 2025
Viewed by 1418
Abstract
Mitral regurgitation (MR) is a common valvular disorder often seen in a severely dilated left ventricle (LV) and reduced LV function. In chronic heart failure (HF), severe functional MR increases preload, wall tension, LV workload, and worsening prognosis. The MitraClip device offers a [...] Read more.
Mitral regurgitation (MR) is a common valvular disorder often seen in a severely dilated left ventricle (LV) and reduced LV function. In chronic heart failure (HF), severe functional MR increases preload, wall tension, LV workload, and worsening prognosis. The MitraClip device offers a percutaneous treatment option in HF, although its safety and efficacy in advanced and acute HF remain a gray zone. We present a successful case of the emergent MitraClip intervention in a patient with advanced HF and review the relevant literature. Full article
(This article belongs to the Section Cardiology)
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11 pages, 2224 KiB  
Review
ECMO in the Management of Noncardiogenic Pulmonary Edema with Increased Inflammatory Reaction After Cardiac Surgery: A Case Report and Literature Review
by Raluca Elisabeta Staicu, Ana Lascu, Petru Deutsch, Horea Bogdan Feier, Aniko Mornos, Gabriel Oprisan, Flavia Bijan and Elena Cecilia Rosca
Diseases 2024, 12(12), 316; https://doi.org/10.3390/diseases12120316 - 4 Dec 2024
Cited by 1 | Viewed by 1829
Abstract
Noncardiogenic pulmonary edema after cardiac surgery is a rare but severe complication. The etiology remains poorly understood; however, the issue may arise from multiple sources. Possible causes include a significant inflammatory response or an autoimmune process. Pulmonary edema resulting from noncardiac etiologies can [...] Read more.
Noncardiogenic pulmonary edema after cardiac surgery is a rare but severe complication. The etiology remains poorly understood; however, the issue may arise from multiple sources. Possible causes include a significant inflammatory response or an autoimmune process. Pulmonary edema resulting from noncardiac etiologies can necessitate extracorporeal membrane oxygenation (ECMO) because most of the cases present a substantial volume of fluid expelled from the lungs and the medical team must manage the inability to achieve effective ventilation. A 64-year-old patient with known heart disease was admitted to our clinic with acute pulmonary edema. His medical history included Barlow’s disease, severe mitral regurgitation (IIP2), moderate–severe tricuspid regurgitation, and moderate pulmonary hypertension. The patient had a coronary angiography performed in a prior hospitalization before the surgical intervention which indicated the absence of coronary lesions. Preoperative screening (nasal, pharyngeal exudate, inguinal pouch culture, and urine culture) was negative, with no active dental infections. The patient was stabilized, and 14 days post-admission, mitral and tricuspid valve repair was performed via a thoracoscopic approach. After being admitted to intensive care post-surgery, the patient quickly developed pulmonary edema, producing a large volume (4.5 L) of yellow secretions through the intubation tube followed by hemodynamic instability necessitating high doses of medications to support circulation but no cardiorespiratory arrest. Due to his worsening condition, the patient was urgently taken back to the operating room, where veno-venous extracorporeal membrane oxygenation (VV-ECMO) was initiated to support oxygenation and stabilize the patient. Full article
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17 pages, 2124 KiB  
Article
Monoamine Oxidase Contributes to Valvular Oxidative Stress: A Prospective Observational Pilot Study in Patients with Severe Mitral Regurgitation
by Raluca Șoșdean, Maria D. Dănilă, Loredana N. Ionică, Alexandru S. Pescariu, Monica Mircea, Adina Ionac, Cristian Mornoș, Constantin T. Luca, Horea B. Feier, Danina M. Muntean and Adrian Sturza
Int. J. Mol. Sci. 2024, 25(19), 10307; https://doi.org/10.3390/ijms251910307 - 25 Sep 2024
Cited by 2 | Viewed by 1315
Abstract
Monoamine oxidases (MAOs), mitochondrial enzymes that constantly produce hydrogen peroxide (H2O2) as a byproduct of their activity, have been recently acknowledged as contributors to oxidative stress in cardiometabolic pathologies. The present study aimed to assess whether MAOs are mediators [...] Read more.
Monoamine oxidases (MAOs), mitochondrial enzymes that constantly produce hydrogen peroxide (H2O2) as a byproduct of their activity, have been recently acknowledged as contributors to oxidative stress in cardiometabolic pathologies. The present study aimed to assess whether MAOs are mediators of valvular oxidative stress and interact in vitro with angiotensin 2 (ANG2) to mimic the activation of the renin–angiotensin system. To this aim, valvular tissue samples were harvested from 30 patients diagnosed with severe primary mitral regurgitation and indication for surgical repair. Their reactive oxygen species (ROS) levels were assessed by means of a ferrous oxidation xylenol orange (FOX) assay, while MAO expression was assessed by immune fluorescence (protein) and qRT-PCR (mRNA). The experiments were performed using native valvular tissue acutely incubated or not with angiotensin 2 (ANG2), MAO inhibitors (MAOI) and the angiotensin receptor blocker, irbesartan (Irb). Correlations between oxidative stress and echocardiographic parameters were also analyzed. Ex vivo incubation with ANG2 increased MAO-A and -B expression and ROS generation. The level of valvular oxidative stress was negatively correlated with the left ventricular ejection fraction. MAOI and Irb reduced valvular H2O2. production. In conclusion, both MAO isoforms are expressed in pathological human mitral valves and contribute to local oxidative stress and ventricular functional impairment and can be modulated by the local renin–angiotensin system. Full article
(This article belongs to the Special Issue Molecular and CelluIar Mechanisms of Valvular Heart Disease)
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11 pages, 777 KiB  
Article
Monoclonal Gammopathy of Undetermined Significance and Associated Cardiovascular Outcomes in a Hospital Setting—A Fresh Perspective
by Ahmad Mustafa, Chapman Wei, Ghada Araji, Muhammad Rafay Khan Niazi, Radu Grovu, Mitchell Weinberg and James Lafferty
Curr. Oncol. 2024, 31(8), 4432-4442; https://doi.org/10.3390/curroncol31080331 - 1 Aug 2024
Viewed by 1808
Abstract
There is a paucity of data on the cardiovascular implications of monoclonal gammopathy of undetermined significance, especially among hospitalized patients. Our study aimed to investigate the association between MGUS and cardiovascular outcomes in a hospital setting using the National Inpatient Sample database. MGUS [...] Read more.
There is a paucity of data on the cardiovascular implications of monoclonal gammopathy of undetermined significance, especially among hospitalized patients. Our study aimed to investigate the association between MGUS and cardiovascular outcomes in a hospital setting using the National Inpatient Sample database. MGUS patients were sampled using ICD-10 codes. The patients were stratified into two cohorts based on the presence or absence of MGUS. Comorbidities and cardiovascular outcomes were collected using ICD 10 DM codes. CV outcomes were evaluated before and after 1:1 matching for age, gender, and race. Furthermore, a sensitivity analysis was performed on the matched population, which excluded patients with diabetes mellitus, prior myocardial infarction, chronic kidney disease (stages 3–5), dialysis, hypertension, obesity, metabolic syndrome, cancer, antiplatelets, and oral anticoagulant use and was adjusted for smoking, dyslipidemia, and aspirin use to evaluate the cardiovascular outcomes. MGUS patients had more heart failure, atrial fibrillation, venous thromboembolism, aortic aneurysm, aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation, conduction disorder, cor pulmonale, peripheral vascular disease, and acute myocardial infarction. After matching, MGUS was associated with heart failure, atrial fibrillation, venous thromboembolism, aortic stenosis, mitral regurgitation, conduction disorder, cor pulmonale, and peripheral vascular disease. MGUS was linked to a wide spectrum of cardiovascular diseases in an inpatient setting. Further studies are needed to formulate appropriate recommendations for the screening and management of cardiovascular complications in individuals with MGUS. Full article
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12 pages, 3313 KiB  
Article
Combined Use of MITRACLIP and Ventricular ASSIST Devices in Cardiogenic Shock: MITRA-ASSIST Registry
by Borja Rivero-Santana, Alfonso Jurado-Roman, Isaac Pascual, Chi Hion Li, Pilar Jimenez, Rodrigo Estevez-Loureiro, Pedro Cepas-Guillén, Tomás Benito-González, Ana Serrador, Jose Maria De La Torre-Hernandez, Pablo Avanzas, Estefania Fernandez-Peregrina, Luis Nombela, Berenice Caneiro-Queija, Xavier Freixas, Felipe Fernandez-Vazquez, Ignacio Amat-Santos, Dae-Hyun Lee, Victor Leon, Dabit Arzamendi, Raul Moreno and Guillermo Galeoteadd Show full author list remove Hide full author list
J. Clin. Med. 2024, 13(15), 4408; https://doi.org/10.3390/jcm13154408 - 28 Jul 2024
Cited by 2 | Viewed by 1677
Abstract
Background: Patients with cardiogenic shock (CS) and mitral regurgitation (MI) have a prohibitive risk that contraindicates surgical treatment. Although the feasibility of transcatheter edge-to-edge therapy (TEER) has been demonstrated in this setting, the benefit of the combined use of TEER with mechanical circulatory [...] Read more.
Background: Patients with cardiogenic shock (CS) and mitral regurgitation (MI) have a prohibitive risk that contraindicates surgical treatment. Although the feasibility of transcatheter edge-to-edge therapy (TEER) has been demonstrated in this setting, the benefit of the combined use of TEER with mechanical circulatory support devices (MCS) has not been studied. The aim of this study was to evaluate the clinical outcomes of TEER in patients with MCS. Methods: The MITRA-ASSIST study is a retrospective multicentre Spanish registry that included patients with MR and CS who underwent TEER in combination with MCS. The primary endpoint was death from any cause at 12 months. The secondary endpoint was a composite of death from any cause or hospitalisation for heart failure at 12 months. Results: A total of twenty-four patients in nine high-volume Spanish centres (66.2 (51–82) years, 70.8% female, EuroSCORE II 20.4 ± 17.8) were included. Acute ST-elevation myocardial infarction was the main CS aetiology (56%), and the most implanted MCS was the intra-aortic balloon pump (82.6%), followed by ECMO (8.7%), IMPELLACP® (4.3%), or a combination of both (4.3%). Procedural success was 95.8%, with 87.5% in-hospital survival. At 12-month follow-up, 25.0% of patients died, and 33.3% had a composite event of death from any cause or hospitalisation for heart failure. Conclusions: TEER in patients with concomitant CS and MR who require MCS appears to be a promising therapeutic alternative with a high device procedural success rate and acceptable mortality and heart failure readmission rates at follow-up. Full article
(This article belongs to the Section Cardiovascular Medicine)
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14 pages, 1026 KiB  
Article
Early Outcomes of Two Large Mitral Valve Transcatheter Edge-to-Edge Repair Devices—A Propensity Score Matched Multicenter Comparison
by Philipp von Stein, Hendrik Wienemann, Jennifer von Stein, Atsushi Sugiura, Tetsu Tanaka, Refik Kavsur, Can Öztürk, Marcel Weber, Jean Marc Haurand, Patrick Horn, Tobias Kister, Amir Abbas Mahabadi, Niklas Boeder, Tobias Ruf, Muhammed Gerçek, Christoph Mues, Christina Grothusen, Julia Novotny, Ludwig Weckbach, Henning Guthoff, Felix Rudolph, Amin Polzin, Stephan Baldus, Tienush Rassaf, Holger Thiele, Helge Möllmann, Malte Kelm, Volker Rudolph, Ralph Stephan von Bardeleben, Holger Nef, Peter Luedike, Philipp Lurz, Jörg Hausleiter, Roman Pfister and Victor Mauriadd Show full author list remove Hide full author list
J. Clin. Med. 2024, 13(14), 4187; https://doi.org/10.3390/jcm13144187 - 17 Jul 2024
Viewed by 1604
Abstract
Background/Objectives: Previous trials reported comparable results with PASCAL and earlier MitraClip generations. Limited comparative data exist for more contemporary MitraClip generations, particularly the large MitraClip XT(R/W). We aimed to evaluate acute and 30-day outcomes in patients undergoing mitral valve transcatheter edge-to-edge repair (M-TEER) [...] Read more.
Background/Objectives: Previous trials reported comparable results with PASCAL and earlier MitraClip generations. Limited comparative data exist for more contemporary MitraClip generations, particularly the large MitraClip XT(R/W). We aimed to evaluate acute and 30-day outcomes in patients undergoing mitral valve transcatheter edge-to-edge repair (M-TEER) with one of the large devices, either PASCAL P10 or MitraClip XT(R/W) (3rd/4th generation). Methods: A total of 309 PASCAL-treated patients were matched by propensity score to 253 MitraClip-treated patients, resulting in 200 adequately balanced pairs. Procedural, clinical, and echocardiographic outcomes were collected for up to 30 days, including subgroup analysis for mitral regurgitation (MR) etiologies. Results: PASCAL and MitraClip patients were comparable regarding age (80 vs. 79 years), sex (female: 45.5% vs. 50.5%), and MR etiology (degenerative MR: n = 94, functional MR [FMR]: n = 96, mixed MR: n = 10 in each group). Technical success rates were comparable (96.5% vs. 96.0%; p > 0.999). At discharge, the mean gradient was higher (3.3 mmHg vs. 3.0 mmHg; p = 0.038), and the residual mitral valve orifice area was smaller in MitraClip patients (3.0 cm2 vs. 2.3 cm2; p < 0.001). At discharge, the reduction to MR ≤ 2+ was comparable (92.4% vs. 87.8%; p = 0.132). However, reduction to MR ≤ 1+ was more frequently observed in PASCAL patients (67.7% vs. 56.6%; p = 0.029), driven by the FMR subgroup (74.0% vs. 60.0%; p = 0.046). No difference was observed in 30-day mortality (p = 0.204) or reduction in NYHA-FC to ≤II (p > 0.999). Conclusions: Both M-TEER devices exhibited high and comparable rates of technical success and MR reduction to ≤2+. PASCAL may be advantageous in achieving MR reduction to ≤1+ in patients with FMR. Full article
(This article belongs to the Special Issue Valvular Heart Disease: Challenges and New Opportunities)
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16 pages, 1160 KiB  
Article
Challenges Regarding the Value of Routine Perioperative Transesophageal Echocardiography in Mitral Valve Surgery
by Luminita Iliuta, Madalina-Elena Rac-Albu, Eugenia Panaitescu, Andreea Gabriella Andronesi, Horatiu Moldovan, Florentina Ligia Furtunescu, Alexandru Scafa-Udriște, Mihai Adrian Dobra, Cristina Mirela Dinescu, Gheorghe Dodu Petrescu and Marius Rac-Albu
Diagnostics 2024, 14(11), 1095; https://doi.org/10.3390/diagnostics14111095 - 24 May 2024
Cited by 1 | Viewed by 1250
Abstract
Background and Objectives: Transesophageal echocardiography (TEE) is considered an indispensable tool for perioperative evaluation in mitral valve (MV) surgery. TEE is routinely performed by anesthesiologists competent in TEE; however, in certain situations, the expertise of a senior cardiologist specializing in TEE is required, [...] Read more.
Background and Objectives: Transesophageal echocardiography (TEE) is considered an indispensable tool for perioperative evaluation in mitral valve (MV) surgery. TEE is routinely performed by anesthesiologists competent in TEE; however, in certain situations, the expertise of a senior cardiologist specializing in TEE is required, which incurs additional costs. The purpose of this study is to determine the indications for specialized perioperative TEE based on its utility and the correlation between intraoperative TEE diagnoses and surgical findings, compared with routine TEE performed by an anesthesiologist. Materials and Methods: We conducted a three-year prospective study involving 499 patients with MV disease undergoing cardiac surgery. Patients underwent intraoperative and early postoperative TEE and at least one other perioperative echocardiographic evaluation. A computer application was dedicated to calculating the utility of each type of specialized TEE indication depending on the type of MV disease and surgical intervention. Results: The indications for performing specialized perioperative TEE identified in our study can be categorized into three groups: standard, relative, and uncertain. Standard indications for specialized intraoperative TEE included establishing the mechanism and severity of MR (mitral regurgitation), guiding MV valvuloplasty, diagnosing associated valvular lesions post MVR (mitral valve replacement), routine evaluations in triple-valve replacements, and identifying the causes of acute, intraoperative, life-threatening hemodynamic dysfunction. Early postoperative specialized TEE in the intensive care unit (ICU) is indicated for the suspicion of pericardial or pleural effusions, establishing the etiology of acute hemodynamic dysfunction, and assessing the severity of residual MR post valvuloplasty. Conclusions: Perioperative TEE in MV surgery can generally be performed by a trained anesthesiologist for standard measurements and evaluations. In certain cases, however, a specialized TEE examination by a trained senior cardiologist is necessary, as it is indirectly associated with a decrease in postoperative complications and early postoperative mortality rates, as well as an improvement in immediate and long-term prognoses. Also, for standard indications, the correlation between surgical and TEE diagnoses was superior when specialized TEE was used. Full article
(This article belongs to the Special Issue Diagnosis, Prognosis, and Management of Cardiovascular Disease)
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15 pages, 2146 KiB  
Article
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects
by Gloria K. E. Zodanu, John H. Hwang, Zubin Mehta, Carlos Sisniega, Alexander Barsegian, Xuedong Kang, Reshma Biniwale, Ming-Sing Si, Gary M. Satou, Nancy Halnon, UCLA Congenital Heart Defect BioCore Faculty, Wayne W. Grody, Glen S. Van Arsdell, Stanley F. Nelson and Marlin Touma
Int. J. Mol. Sci. 2024, 25(10), 5469; https://doi.org/10.3390/ijms25105469 - 17 May 2024
Cited by 2 | Viewed by 3179
Abstract
Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead [...] Read more.
Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the FBN1 gene spanning exons 7–30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel FBN1/FBN2 variants and signifies the phenotype–genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with FBN1/FBN2 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling. Full article
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24 pages, 4367 KiB  
Review
Primary Cardiac Intimal Sarcoma: Multi-Layered Strategy and Core Role of MDM2 Amplification/Co-Amplification and MDM2 Immunostaining
by Claudiu Nistor, Camelia Stanciu Gavan, Adelina Birceanu, Cezar Betianu, Mara Carsote, Anca-Pati Cucu, Mihaela Stanciu, Florina Ligia Popa, Adrian Ciuche and Mihai-Lucian Ciobica
Diagnostics 2024, 14(9), 919; https://doi.org/10.3390/diagnostics14090919 - 28 Apr 2024
Cited by 6 | Viewed by 3098 | Correction
Abstract
Primary cardiac tumours are relatively uncommon (75% are benign). Across the other 25%, representing malignant neoplasia, sarcomas account for 75–95%, and primary cardiac intimal sarcoma (PCIS) is one of the rarest findings. We aimed to present a comprehensive review and practical considerations from [...] Read more.
Primary cardiac tumours are relatively uncommon (75% are benign). Across the other 25%, representing malignant neoplasia, sarcomas account for 75–95%, and primary cardiac intimal sarcoma (PCIS) is one of the rarest findings. We aimed to present a comprehensive review and practical considerations from a multidisciplinary perspective with regard to the most recent published data in the specific domain of PCIS. We covered the issues of awareness amid daily practice clinical presentation to ultra-qualified management in order to achieve an adequate diagnosis and prompt intervention, also emphasizing the core role of MDM2 immunostaining and MDM2 genetic analysis. An additional base for practical points was provided by a novel on-point clinical vignette with MDM2-positive status. According to our methods (PubMed database search of full-length, English publications from January 2021 to March 2023), we identified three studies and 23 single case reports represented by 22 adults (male-to-female ratio of 1.2; male population with an average age of 53.75 years, range: 35–81; woman mean age of 55.5 years, range: 34–70) and a 4-year-old child. The tumour-related clinical picture was recognized in a matter of one day to ten months on first admission. These non-specific data (with a very low index of suspicion) included heart failure at least NYHA class II, mitral regurgitation and pulmonary hypertension, acute myocardial infarction, ischemic stroke, obstructive shock, and paroxysmal atrial fibrillation. Awareness might come from other complaints such as (most common) dyspnoea, palpitation, chest pressure, cough, asthenia, sudden fatigue, weakness, malaise, anorexia, weight loss, headache, hyperhidrosis, night sweats, and epigastric pain. Two individuals were initially misdiagnosed as having endocarditis. A history of prior treated non-cardiac malignancy was registered in 3/23 subjects. Distant metastasis as the first step of detection (n = 2/23; specifically, brain and intestinal) or during follow-up (n = 6/23; namely, intestinal, brain and bone, in two cases for each, and adrenal) required additional imagery tools (26% of the patients had distant metastasis). Transoesophageal echocardiography, computed tomography (CT), magnetic resonance imagery, and even 18F-FDG positronic emission tomography-CT (which shows hypermetabolic lesions in PCIS) represent the basis of multimodal tools of investigation. Tumour size varied from 3 cm to ≥9 cm (average largest diameter of 5.5 cm). The most frequent sites were the left atrium followed by the right ventricle and the right atrium. Post-operatory histological confirmation was provided in 20/23 cases and, upon tumour biopsy, in 3/23 of them. The post-surgery maximum free-disease interval was 8 years, the fatal outcome was at the earliest two weeks since initial admission. MDM2 analysis was provided in 7/23 subjects in terms of MDM2-positive status (two out of three subjects) at immunohistochemistry and MDM2 amplification (four out of five subjects) at genetic analysis. Additionally, another three studies addressed PCISs, and two of them offered specific MDM2/MDM2 assays (n = 35 patients with PCISs); among the provided data, we mention that one cohort (n = 20) identified a rate of 55% with regard to MDM2 amplification in intimal sarcomas, and this correlated with a myxoid pattern; another cohort (n = 15) showed that MDM2-positive had a better prognostic than MDM2-negative immunostaining. To summarize, MDM2 amplification and co-amplification, for example, with MDM4, CDK4, HMGA3, CCND3, PDGFRA, TERT, KIT, CCND3, and HDAC9, might improve the diagnosis of PCIS in addition to MDM2 immunostaining since 10–20% of these tumours are MDM2-negative. Further studies are necessary to highlight MDM2 applicability as a prognostic factor and as an element to be taken into account amid multi-layered management in an otherwise very aggressive malignancy. Full article
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14 pages, 1491 KiB  
Article
Predicting One-Year Mortality after Discharge Using Acute Heart Failure Score (AHFS)
by Mariarosaria Magaldi, Erika Nogue, Nicolas Molinari, Nicola De Luca, Anne-Marie Dupuy, Florence Leclercq, Jean-Luc Pasquie, Camille Roubille, Grégoire Mercier, Jean-Paul Cristol and François Roubille
J. Clin. Med. 2024, 13(7), 2018; https://doi.org/10.3390/jcm13072018 - 30 Mar 2024
Viewed by 2012
Abstract
Background: Acute heart failure (AHF) represents a leading cause of unscheduled hospital stays, frequent rehospitalisations, and mortality worldwide. The aim of our study was to develop a bedside prognostic tool, a multivariable predictive risk score, that is useful in daily practice, thus [...] Read more.
Background: Acute heart failure (AHF) represents a leading cause of unscheduled hospital stays, frequent rehospitalisations, and mortality worldwide. The aim of our study was to develop a bedside prognostic tool, a multivariable predictive risk score, that is useful in daily practice, thus providing an early prognostic evaluation at admission and an accurate risk stratification after discharge in patients with AHF. Methods: This study is a subanalysis of the STADE HF study, which is a single-centre, prospective, randomised controlled trial enrolling 123 patients admitted to hospital for AHF. Here, 117 patients were included in the analysis, due to data exhaustivity. Regression analysis was performed to determine predictive variables for one-year mortality and/or rehospitalisation after discharge. Results: During the first year after discharge, 23 patients died. After modellisation, the variables considered to be of prognostic relevance in terms of mortality were (1) non-ischaemic aetiology of HF, (2) elevated creatinine levels at admission, (3) moderate/severe mitral regurgitation, and (4) prior HF hospitalisation. We designed a linear model based on these four independent predictive variables, and it showed a good ability to score and predict patient mortality with an AUC of 0.84 (95%CI: 0.76–0.92), thus denoting a high discriminative ability. A risk score equation was developed. During the first year after discharge, we observed as well that 41 patients died or were rehospitalised; hence, while searching for a model that could predict worsening health conditions (i.e., death and/or rehospitalisation), only two predictive variables were identified: non-ischaemic HF aetiology and previous HF hospitalisation (also included in the one-year mortality model). This second modellisation showed a more discrete discriminative ability with an AUC of 0.67 (95% C.I. 0.59–0.77). Conclusions: The proposed risk score and model, based on readily available predictive variables, are promising and useful tools to assess, respectively, the one-year mortality risk and the one-year mortality and/or rehospitalisations in patients hospitalised for AHF and to assist clinicians in the management of patients with HF aiming at improving their prognosis. Full article
(This article belongs to the Special Issue Acute Heart Failure: Clinical Management)
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12 pages, 7989 KiB  
Case Report
Takotsubo Cardiomyopathy Occurring Simultaneously with Acute Myocardial Infarction
by Ilija Srdanović, Dragana Dabović, Vladimir Ivanović, Milenko Čanković, Teodora Pantić, Maja Stefanović, Sonja Dimić, Branislav Crnomarković, Marija Bjelobrk, Miljana Govedarica and Marija Zdravković
Life 2023, 13(8), 1770; https://doi.org/10.3390/life13081770 - 18 Aug 2023
Cited by 2 | Viewed by 1598
Abstract
Introduction: Takotsubo cardiomyopathy (TCM) is a reversible form of cardiomyopathy characterized by transient regional systolic dysfunction of the left ventricle. Case outline: A 78-year-old woman was admitted to the general hospital due to acute inferior STEMI late presentation. Two days after admission, the [...] Read more.
Introduction: Takotsubo cardiomyopathy (TCM) is a reversible form of cardiomyopathy characterized by transient regional systolic dysfunction of the left ventricle. Case outline: A 78-year-old woman was admitted to the general hospital due to acute inferior STEMI late presentation. Two days after admission, the patient reported intense chest pain and an ECG registered diffuse ST-segment elevation in all leads with ST-segment denivelation in aVR. The patient also showed clinical signs of cardiogenic shock and was referred to a reference institution for further evaluation. Echocardiography revealed akinesia of all medioapical segments, dynamic obstruction of the left ventricular outflow tract (LVOT), moderate mitral regurgitation, and pericardial effusion. Coronary angiography showed the suboccluded right coronary artery, and a primary percutaneous coronary intervention was performed, which involved implanting a drug-eluting stent. The patient’s condition worsened as pericardial effusion increased and led to tamponade. Pericardiocentesis was performed, resulting in the patient’s stabilization. At this point, significant gradients at the LVOT and pericardial effusion were not registered. After eight days without symptoms and stable status, the patient was discharged. Conclusions: The simultaneous presence of AMI and TCM increases the risk of developing cardiogenic shock. The cardio-circulatory profile of these patients is different from those with AMI. Full article
(This article belongs to the Special Issue New Insights into Cardiovascular and Exercise Physiology)
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17 pages, 5273 KiB  
Review
Establishing a Novel Diagnostic Framework Using Handheld Point-of-Care Focused-Echocardiography (HoPE) for Acute Left-Sided Cardiac Valve Emergencies: A Bayesian Approach for Emergency Physicians in Resource-Limited Settings
by Kamlin Ekambaram and Karim Hassan
Diagnostics 2023, 13(15), 2581; https://doi.org/10.3390/diagnostics13152581 - 3 Aug 2023
Cited by 4 | Viewed by 2298
Abstract
Acute severe cardiac valve emergencies, such as acute severe mitral regurgitation (AMR) and acute severe aortic regurgitation (AAR), present significant challenges in terms of diagnosis and management. Handheld point-of-care ultrasound devices have emerged as potentially pivotal tools in ensuring the prompt and accurate [...] Read more.
Acute severe cardiac valve emergencies, such as acute severe mitral regurgitation (AMR) and acute severe aortic regurgitation (AAR), present significant challenges in terms of diagnosis and management. Handheld point-of-care ultrasound devices have emerged as potentially pivotal tools in ensuring the prompt and accurate diagnosis of these left-sided valve emergencies by emergency physicians, particularly in resource-limited settings. Despite the increased utilisation of point-of-care ultrasound by emergency physicians for the management of patients in states of acute cardiorespiratory failure, current diagnostic protocols cannot perform sufficient quantitative assessments of the left-sided cardiac valves. This review elucidates and evaluates the diagnostic utility of handheld point-of-care focused-echocardiography (HoPE) in native AMR and AAR by reviewing the relevant literature and the use of clinical case examples from the Emergency Department at Port Shepstone Regional Hospital (PSRH-ED)—a rural, resource-limited hospital located in KwaZulu-Natal, South Africa. Combining the findings of the review and clinical case illustrations, this review proceeds to synthesise a novel, Bayesian-inspired, iterative diagnostic framework that integrates HoPE into the evaluation of patients with acute cardiorespiratory failure and suspected severe left-sided valve lesions. Full article
(This article belongs to the Special Issue Diagnostics in Medical/Surgical Emergency)
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