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Keywords = atrial septal defect

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12 pages, 545 KiB  
Review
The Congenital Malformation of the Interatrial Septum—A Review of Its Development and Embryology with Clinical Implications
by Rui Caetano Oliveira, Paula Martins and Maria de Fátima Martins
J. Dev. Biol. 2025, 13(3), 28; https://doi.org/10.3390/jdb13030028 - 5 Aug 2025
Abstract
The development process of the heart and cardiovascular system is fundamental in human development and highly regulated by genetic factors. This process needs to be highly regulated to prevent malformations. Nevertheless, some heart defects may be identified, especially with modern imaging methodology. Atrial [...] Read more.
The development process of the heart and cardiovascular system is fundamental in human development and highly regulated by genetic factors. This process needs to be highly regulated to prevent malformations. Nevertheless, some heart defects may be identified, especially with modern imaging methodology. Atrial septal defects (ASDs) are particularly common. Understanding the mechanisms involved in ASD formation is fundamental for developing new treatment strategies. In this article, we explore cardiac development and embryology, with a focus on atrial septal defects and their clinical implications. Full article
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10 pages, 2187 KiB  
Case Report
Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis
by Marco Fabiani, Costanza Zangheri, Antonella Cima, Francesca Monaco, Chiara Ali’, Maria Antonietta Barone, Antonella Viola, Alvaro Mesoraca, Katia Margiotti and Claudio Giorlandino
Int. J. Mol. Sci. 2025, 26(10), 4931; https://doi.org/10.3390/ijms26104931 - 21 May 2025
Viewed by 451
Abstract
Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcription factor essential for regulating genes involved in cardiogenesis. [...] Read more.
Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcription factor essential for regulating genes involved in cardiogenesis. Here, we report the identification of a novel heterozygous missense variant in GATA4 (NM_002052.5:c.907G>T, p.Gly303Trp) in a family with a history of CHD. The proband, exhibiting ventricular septal defect (VSD) and pulmonary stenosis, was referred for genetic evaluation after recurrent spontaneous abortions occurred in their partner. In addition, the mother of the proband has a history of atrial septal defect (ASD) with pulmonary stenosis, which suggests a familial inheritance pattern. Full article
(This article belongs to the Special Issue Genetic Testing in Molecular Pathology and Diagnosis)
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27 pages, 1423 KiB  
Review
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
by Giuseppe Reynolds, Andrea Gazzin, Diana Carli, Stefania Massuras, Simona Cardaropoli, Maria Luca, Beatrice Defilippi, Marco Tartaglia, Giovanni Battista Ferrero and Alessandro Mussa
Int. J. Mol. Sci. 2025, 26(8), 3515; https://doi.org/10.3390/ijms26083515 - 9 Apr 2025
Cited by 1 | Viewed by 2162
Abstract
RASopathies are a diverse group of genetic conditions caused by hyperactivation of the RAS-MAPK signaling pathway, mainly inherited in an autosomal dominant manner. They present with variable features such as short stature, congenital heart defects, facial dysmorphisms, and neurodevelopmental delays. This study retrospectively [...] Read more.
RASopathies are a diverse group of genetic conditions caused by hyperactivation of the RAS-MAPK signaling pathway, mainly inherited in an autosomal dominant manner. They present with variable features such as short stature, congenital heart defects, facial dysmorphisms, and neurodevelopmental delays. This study retrospectively analyzed 143 cases from 2003 to 2022, aiming to improve genotype–phenotype correlation knowledge for personalized care. Patients with genetically confirmed Noonan syndrome (NS) and related disorders were included, with molecular analysis performed via Sanger or parallel sequencing. Data from 906 previously reported cases were also reviewed. Among the 143 patients, most had NS (n = 116). PTPN11 mutations were most frequent (61%), followed by SOS1 (10.3%) and RAF1 (8.6%). Cardiac anomalies were observed in 71%, with pulmonary stenosis (PS) prevalent in NS (48.3%) and hypertrophic cardiomyopathy (HCM) in NSML (40%). PTPN11 variants were linked to PS and atrial septal defects, SOS1 to multiple cardiopathies, and RAF1 to HCM. Additional features included facial dysmorphisms (74.1%), short stature (62.0%), skeletal anomalies (43.1%), cryptorchidism (59.7%), and brain abnormalities (17.2%). JMML and other malignancies were seen in eight patients. This study emphasizes the importance of genotype-guided care, improved diagnosis of mild cases, and the underrecognized prevalence of neurological anomalies. Full article
(This article belongs to the Special Issue MAPK Signaling Cascades in Human Health and Diseases, 2nd Edition)
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5 pages, 816 KiB  
Case Report
Transjugular Helix Leadless Pacing System Implantation in Adult Congenital Heart Disease Patient with Previous Tricuspid Valve Surgery for Ebstein Anomaly
by Giuseppe Sgarito, Antonio Cascino, Giulia Randazzo, Giuliano Ferrara, Annalisa Alaimo, Sabrina Spoto and Sergio Conti
Hearts 2025, 6(2), 10; https://doi.org/10.3390/hearts6020010 - 6 Apr 2025
Viewed by 524
Abstract
Adult congenital heart disease (ACHD) represents a significant portion of congenital anomalies, and with improved treatments leading to an increased life expectancy, its prevalence has been increasing over the past few decades. Nonetheless, a considerable number of patients with ACHD require cardiac rhythm [...] Read more.
Adult congenital heart disease (ACHD) represents a significant portion of congenital anomalies, and with improved treatments leading to an increased life expectancy, its prevalence has been increasing over the past few decades. Nonetheless, a considerable number of patients with ACHD require cardiac rhythm management devices during their lifetime. Traditionally, transvenous pacemaker placement has been the standard mode of treatment for these patients. However, some patients with ACHD have anatomical barriers that obscure this mode of treatment. Leadless pacing systems (LPSs) have changed the field of pacing. Currently, two different LPSs are available. In a real-world setting, implanting an LPS in patients after tricuspid valve (TV) surgery seems to be a straightforward procedure with a low risk of complications, with patients showing no valvular dysfunction after the intervention. LPS implantation is an option to avoid device-related complications in patients with previous TV surgery. Moreover, it has been demonstrated that even the jugular approach seems as safe as the femoral approach and could be considered an alternative implantation method for LPSs. The Aveir VR leadless pacemaker is a helix LPS with unique features, such as its capacity as a dual-chamber leadless pacemaker, the ability to map electrical parameters before releasing the device, and its possibility of being retrievable. Hereby, we present the case of Ebstein’s anomaly, atrial septal defect closure, and previous TV surgery with symptomatic intermittent advanced atrioventricular block. This case illustrates that a transjugular approach for LPSs is also feasible in patients with ACHD. Full article
(This article belongs to the Collection Feature Papers from Hearts Editorial Board Members)
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13 pages, 16716 KiB  
Review
The Growing Role of Intracardiac Echo in Congenital Heart Disease Interventions
by Eihab Ghantous and Jamil A. Aboulhosn
J. Clin. Med. 2025, 14(7), 2414; https://doi.org/10.3390/jcm14072414 - 1 Apr 2025
Cited by 1 | Viewed by 776
Abstract
Advancements in congenital heart disease (CHD) care have significantly improved survival, leading to a growing population of adults with congenital heart disease (ACHDs). Many of these patients require ongoing interventions for residual defects, conduit or valve dysfunction, and arrhythmia management, often performed using [...] Read more.
Advancements in congenital heart disease (CHD) care have significantly improved survival, leading to a growing population of adults with congenital heart disease (ACHDs). Many of these patients require ongoing interventions for residual defects, conduit or valve dysfunction, and arrhythmia management, often performed using transcatheter techniques. Imaging plays a critical role in ensuring procedural success and safety. Intracardiac echocardiography (ICE) has emerged as an essential imaging modality in ACHD interventions. With continuous technological advancements, ICE offers several advantages over transesophageal echocardiography (TEE) and transthoracic echocardiography (TTE), including superior visualization, real-time guidance, and the ability to avoid general anesthesia. These benefits have made ICE the preferred imaging tool for many transcatheter procedures. This review explores the expanding role of ICE in ACHD interventions, highlighting its applications in structural and electrophysiological procedures. By enhancing procedural precision and reducing complications, ICE is transforming the management of ACHD patients, optimizing outcomes, and improving long-term care for this complex and growing population. Full article
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12 pages, 5785 KiB  
Case Report
Concurrent Persistent Truncus Arteriosus and Left Atrial Diverticulum in a Domestic Short-Haired Cat
by Irina Constantin, Alexandra Cofaru, Raluca Murariu, Iuliu Călin Scurtu and Flaviu-Alexandru Tăbăran
Animals 2025, 15(6), 899; https://doi.org/10.3390/ani15060899 - 20 Mar 2025
Viewed by 487
Abstract
A 2-year-3-month-old neutered male domestic shorthair cat was presented for cardiological evaluation at the University of Agricultural Sciences and Veterinary Medicine in Cluj-Napoca, Romania, with a history of dyspnea, open-mouth breathing, cyanosis, and exercise intolerance. Physical examination identified a grade 4/6 systolic murmur, [...] Read more.
A 2-year-3-month-old neutered male domestic shorthair cat was presented for cardiological evaluation at the University of Agricultural Sciences and Veterinary Medicine in Cluj-Napoca, Romania, with a history of dyspnea, open-mouth breathing, cyanosis, and exercise intolerance. Physical examination identified a grade 4/6 systolic murmur, cyanosis, and mild dyspnea, with no abdominal abnormalities. Echocardiography revealed right ventricular hypertrophy, severe right atrial dilation, a thickened tricuspid valve, and a large nonrestrictive ventricular septal defect with a left-to-right shunt, consistent with persistent truncus arteriosus (PTA), confirmed postmortem. During necropsy, in addition to the clinically confirmed diagnoses, bilateral myxomatous degeneration of the A-V valves, and associated anomalies such as an atrial diverticulum and splenopancreatic fusion were observed and confirmed histologically. This case emphasizes the clinical and morphological complexity of congenital heart defects in felines, highlighting the importance of advanced diagnostic and histopathological techniques for accurate diagnosis and characterization. Full article
(This article belongs to the Section Veterinary Clinical Studies)
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17 pages, 301 KiB  
Review
Missed or Delayed Diagnosis of Heart Disease by the General Pediatrician
by Ageliki A. Karatza, Sotirios Fouzas, Despoina Gkentzi, Eirini Kostopoulou, Christina Loukopoulou, Gabriel Dimitriou and Xenophon Sinopidis
Children 2025, 12(3), 366; https://doi.org/10.3390/children12030366 - 15 Mar 2025
Viewed by 1462
Abstract
Missed or delayed heart disease diagnoses pose a major challenge in pediatric primary care. Many cardiac conditions present with subtle or nonspecific symptoms that resemble benign childhood illnesses, making their prompt recognition difficult. This review describes congenital and acquired heart diseases prone to [...] Read more.
Missed or delayed heart disease diagnoses pose a major challenge in pediatric primary care. Many cardiac conditions present with subtle or nonspecific symptoms that resemble benign childhood illnesses, making their prompt recognition difficult. This review describes congenital and acquired heart diseases prone to diagnostic delays, including critical congenital heart disease, coarctation of the aorta, atrial and ventricular septal defects, myocarditis, Kawasaki disease, heart failure, and pulmonary arterial hypertension. The atypical presentations of these disorders and the associated diagnostic pitfalls are emphasized. Furthermore, the importance of alarming symptoms and signs, such as chest pain, palpitations, syncope, and abnormal heart murmurs, is underscored. A structured approach to these red flags is presented to assist primary care pediatricians in identifying children at risk, initiating appropriate management, and referring them for specialized evaluation. The importance of preparticipation screening for athletes is also discussed, highlighting how it can be applied to all children during routine health visits to identify those with heart disease. Appropriate training is essential to increase pediatricians’ ability to recognize and manage cardiac patients. Full article
(This article belongs to the Section Pediatric Cardiology)
12 pages, 1026 KiB  
Article
Efficacy and Safety of Percutaneous ASD Closure in Adults: Comparative Outcomes of Occluder Devices in a Single-Center Cohort
by Elham Kayvanpour, Elena Matzeit, Christoph Reich, Ziya Kaya, Sven Pleger, Norbert Frey, Benjamin Meder and Farbod Sedaghat-Hamedani
J. Clin. Med. 2025, 14(6), 1867; https://doi.org/10.3390/jcm14061867 - 10 Mar 2025
Viewed by 906
Abstract
Background: Atrial septal defect (ASD) is a prevalent congenital heart condition, resulting in left-to-right shunting. Untreated ASDs may be associated with complications, including right-sided heart failure, pulmonary hypertension, and atrial arrhythmias. Percutaneous ASD closure, performed with various occluder devices, has become the preferred [...] Read more.
Background: Atrial septal defect (ASD) is a prevalent congenital heart condition, resulting in left-to-right shunting. Untreated ASDs may be associated with complications, including right-sided heart failure, pulmonary hypertension, and atrial arrhythmias. Percutaneous ASD closure, performed with various occluder devices, has become the preferred approach for symptomatic patients with suitable anatomy, yet data on device-specific efficacy and safety profiles remain limited. Methods: This study was a retrospective, single-center analysis involving patients who underwent percutaneous ASD closure between January 2000 and February 2023. Data on patient characteristics, indications for the procedure, procedural details, and clinical outcomes were extracted from electronic medical records. Endpoints included complications at the puncture site, pericardial effusion, atrial arrhythmias, device-related thrombus formation, and overall survival. Results: A total of 195 patients were included (mean age 53.6 ± 16.2 years; 60.5% female). Three different devices were used: Amplatzer ASD occluder (n = 111), Gore Septal Occluder (n = 67), and Occlutech ASD occluder (n = 17). Initial procedural success rate was 90.8%, with no significant differences observed between devices. Periprocedural complication rates were low and comparable across all devices. New-onset atrial fibrillation within the first month post-implantation occurred in 7.5% of patients with the Gore device, compared to 0.9% with the Amplatzer device (p = 0.03) and 0% with the Occlutech device. No statistically significant differences were observed among the devices regarding thrombus formation, late-onset pericardial effusion, device erosion, or stroke. Conclusions: Percutaneous ASD closure demonstrates high procedural success and low complication rates across different occluder devices, supporting its efficacy and safety as a treatment for adults. Although the Gore device showed a higher incidence of new-onset AF compared to the Amplatzer device, no significant differences were observed regarding thrombus formation, pericardial effusion, device erosion or stroke. Full article
(This article belongs to the Special Issue Adult Congenital Heart Disease: Latest Advances and Prospects)
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11 pages, 357 KiB  
Article
A Comparison of Long-Term Right Ventricular Functions in Children with Transcatheter and Surgically Closed Secundum Atrial Septal Defects (ASDs): A Strain Echocardiography Study
by Serra Karaca, Doruk Özbingöl, Pelin Karaca Özer, Mustafa Lütfi Yavuz, Türkan Tansel and Kemal Nişli
Diagnostics 2025, 15(5), 606; https://doi.org/10.3390/diagnostics15050606 - 2 Mar 2025
Viewed by 864
Abstract
Background/Objectives: Secundum-type atrial septal defect (ASD) is one of the most common congenital heart defects, with an incidence of 5.64 per 10,000 live births worldwide. In our study, long-term follow-up results of children who underwent percutaneous ASD closure and patients who underwent [...] Read more.
Background/Objectives: Secundum-type atrial septal defect (ASD) is one of the most common congenital heart defects, with an incidence of 5.64 per 10,000 live births worldwide. In our study, long-term follow-up results of children who underwent percutaneous ASD closure and patients who underwent surgical treatment were evaluated using right ventricular strain echocardiography and electrocardiography. Methods: 30 patients who underwent transcatheter ASD closure and 30 patients provided with surgical ASD closure were prospectively compared with 50 healthy children with similar demographic characteristics. ECG and transthoracic echocardiography were performed for all patients. The evaluated echocardiography variables are Tricuspid annular plane systolic excursion (TAPSE), 2D right ventricle (RV) and right atrium (RA) dimensions, right ventricular segmental longitudinal strain, and global longitudinal strain. ECG evaluation was performed especially in terms of QRS duration and its correlation with strain echo measurements. Results: The surgical treatment group has statistically significant ASD size compared to patients who underwent transcatheter closure (20 ± 3.6 and 14.87 ± 3.7 mm, p < 0.001). Patients who had surgical treatment have increased RA and RV diameters, and a statistically significant decrease was observed in right ventricular free-wall longitudinal strain and right ventricular four-chamber longitudinal strain compared to patients in transcatheter and the control group (p < 0.001). QRS durations were similarly normal in electrocardiography in the transcatheter and the control groups, and the QRS duration was observed as statistically significantly increased in the patients in the surgical treatment group (p < 0.001). Conclusions: Strain values of the patients who underwent surgical closure were lower, and the QRS values on the ECG were longer, compared to the transcatheter group, which is an indicator that a large ASD diameter has a negative effect on long-term right ventricular function. With this in mind, we argue that early surgical closure is an appropriate treatment option for children whose ASD is large for their age and who are not suitable candidates for transcatheter treatment. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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9 pages, 538 KiB  
Article
Adult Congenital Heart Disease in Serbia: Insights from a Single-Center Registry
by Aleksandra Nikolić, Stefan Veljković, Jovana Lakčević, Ana Peruničić, Armin Šljivo, Miloš Babić, Marko Nikolić, Slobodan Tomić, Dragana Radoičić, Mihajlo Farkić, Darko Boljević, Sanja Vučinić, Sanja Kablar and Milovan Bojić
Diagnostics 2025, 15(4), 498; https://doi.org/10.3390/diagnostics15040498 - 19 Feb 2025
Viewed by 710
Abstract
Background/Objectives: Congenital heart disease (CHD), affecting approximately 1% of live births, has transitioned to a chronic condition due to advances in diagnostics and surgery, resulting in an increasing adult congenital heart disease (ACHD) population. This study characterizes the clinical and demographic profiles of [...] Read more.
Background/Objectives: Congenital heart disease (CHD), affecting approximately 1% of live births, has transitioned to a chronic condition due to advances in diagnostics and surgery, resulting in an increasing adult congenital heart disease (ACHD) population. This study characterizes the clinical and demographic profiles of ACHD patients in Serbia, focusing on congenital anomalies, mortality rates, and key clinical factors to identify opportunities for improving care and outcomes. Methods: This observational single-center study was conducted at the Cardiovascular Institute “Dedinje” in Belgrade, Serbia, involving patients diagnosed or treated for CHD between 2006 and 2022. Results: A total of 1532 patients were included in the study, with common diagnoses including atrial septal defects (ASD) (47.65%) and ventricular septal defects (VSD) (13.19%). The mean patient age was 48.31 years, with a slight predominance of females (57.21%). The complexity of CHD was categorized as mild (54.6%), moderate (36.5%), and severe (6.3%). The mortality rate was 4.2%, with higher rates observed in conditions like Ebstein anomaly (17.78%) and congenital aortic stenosis (11.76%). Conclusions: This study provides a comprehensive overview of the current state of ACHD management in Serbia, highlighting the high prevalence of ASD and VSD among patients, the challenges associated with moderate and severe CHD, and the notable mortality rates for certain conditions. The findings underscore the importance of improving early detection, individualized treatment plans, and multidisciplinary care to enhance patient outcomes in this growing population. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Cardiovascular Diseases)
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20 pages, 13554 KiB  
Review
The Role of Trans-Oesophageal Echocardiography in the Interventional Cardiology of Adult Congenital Heart Diseases
by Mario Giordano, Giancarlo Scognamiglio, Gianpiero Gaio, Raffaella Marzullo, Michela Palma, Rosaria Barracano, Flavia Fusco, Nunzia Borrelli, Simona Sperlongano, Giovanni Cimmino, Maria Giovanna Russo and Berardo Sarubbi
J. Clin. Med. 2025, 14(4), 1049; https://doi.org/10.3390/jcm14041049 - 7 Feb 2025
Viewed by 804
Abstract
Advances in interventional cardiology have significantly broadened the range of congenital heart diseases (CHDs) amenable to trans-catheter interventions. Trans-oesophageal echocardiography (TOE) plays a pivotal role as a procedural guide in several percutaneous treatments. Enhanced imaging modalities and technological innovations in echocardiography have refined [...] Read more.
Advances in interventional cardiology have significantly broadened the range of congenital heart diseases (CHDs) amenable to trans-catheter interventions. Trans-oesophageal echocardiography (TOE) plays a pivotal role as a procedural guide in several percutaneous treatments. Enhanced imaging modalities and technological innovations in echocardiography have refined the precision and applicability of these approaches. This review explores the role, impact, and advancements of TOE in trans-catheter treatments for adult CHDs, including both common procedures (e.g., atrial septal defect closure, ventricular septal defect closure) and less frequent interventions (e.g., Mustard/Senning baffle leak closure, Fontan conduit fenestration, ruptured sinus of Valsalva embolization). Full article
(This article belongs to the Special Issue Advances in Echocardiography and Its Clinical Applications)
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7 pages, 3687 KiB  
Case Report
Unmasking an Intracardiac Shunt in a Case of Persistent Unexplained Hypoxia: A Case Report
by Sanjay Sivalokanathan, Usman Saeedullah, Auston Locke and Maria Giovanna Trivieri
Reports 2025, 8(1), 16; https://doi.org/10.3390/reports8010016 - 26 Jan 2025
Viewed by 825
Abstract
Background and Clinical Significance: Pulmonary hypertension (PH) is characterized by an increase in mean pulmonary arterial pressure and pulmonary vascular resistance. It is frequently encountered in patients with significant intracardiac shunts, often necessitating the implementation of a closure device or surgical correction. [...] Read more.
Background and Clinical Significance: Pulmonary hypertension (PH) is characterized by an increase in mean pulmonary arterial pressure and pulmonary vascular resistance. It is frequently encountered in patients with significant intracardiac shunts, often necessitating the implementation of a closure device or surgical correction. Nevertheless, the occurrence of a concomitant atrial septal defect (ASD) with a right-to-left shunt inducing left ventricular dysfunction is a rare phenomenon. Case Presentation: A 69-year-old female patient with a history of heart failure (with preserved ejection fraction) and end-stage renal disease on hemodialysis presented to an outside facility, with syncope and hypoxia. She was recently diagnosed with severe pulmonary hypertension (measuring 86 mmHg). Right heart catheterization (RHC) revealed precapillary pulmonary hypertension (88/37/54 mmHg), prompting the initiation of intravenous epoprostenol. Nevertheless, the patient was persistently hypoxic, raising the possibility of a concomitant diagnosis. Upon review of the prior echocardiogram, which included a bubble study, an intracardiac shunt was identified. It was hypothesized that a combination of right ventricular failure and the right-to-left shunt resulting from the ASD contributed to the persistent hypoxemia. In light of this, prostacyclin therapy was continued alongside adjunctive vasopressors, resulting in clinical stabilization. The patient was eventually discharged with a treatment regimen that included subcutaneous Treprostinil. Conclusions: It is important to recognize that the consequences of PH are extensive, and that a rare yet significant etiology for persistent hypoxemia may be attributed to right-to-left shunting. Full article
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10 pages, 3941 KiB  
Case Report
Endoscopic Mitral Surgery in Noonan Syndrome—Case Report and Considerations
by Marius Mihai Harpa, Emanuel-David Anitei, Claudiu Ghiragosian, Paul Calburean, Diana Roxana Opris, Marian Cosmin Banceu, Emil Marian Arbanasi, Horatiu Suciu and Hussam Al Hussein
J. Clin. Med. 2025, 14(2), 583; https://doi.org/10.3390/jcm14020583 - 17 Jan 2025
Viewed by 1098
Abstract
Background: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic [...] Read more.
Background: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy. Noonan syndrome is an autosomal-dominant multisystem disorder with variable expression and is the second most common syndromic cause of congenital heart disease, surpassed only by Down syndrome. A wide spectrum of cardiovascular phenotypes is associated with Noonan syndrome, including pulmonary valve stenosis (often with dysplastic valves), hypertrophic cardiomyopathy, secundum atrial septal defect and mitral valve abnormalities. Methods: Given the limited data in the literature regarding the experience of other centers with endoscopic mitral surgery in patients with this condition, we aim to present the case of a 46-year-old male with a known diagnosis of Noonan syndrome who presented to a cardiologist with a 6-month history of dyspnea and fatigue. Transthoracic echocardiography revealed severe mitral regurgitation. Following multidisciplinary discussions within the Heart Team and after obtaining informed consent from the patient and his family, the decision was made to proceed with totally endoscopic mitral valve repair. Results: The patient experienced an uneventful postoperative course and was discharged 8 days after the procedure. In this case, endoscopic surgery was essential for successfully repairing the mitral valve. Structural abnormalities, such as chest wall deformities causing heart malrotation and atypical positioning, significantly impaired visualization. Conclusions: The endoscopic approach provided superior access to the mitral valve, enabling precise and effective repair. Additionally, it offered benefits such as improved esthetic outcomes, faster recovery, and a reduced risk of exacerbating thoracic deformities due to improper sternal bone healing. Full article
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24 pages, 5694 KiB  
Review
Current Status of CT Imaging Before Common Transcatheter Interventions for Structural Heart Disease
by Rodrigo Salgado, Farah Cadour, Riccardo Cau and Luca Saba
Diagnostics 2025, 15(1), 97; https://doi.org/10.3390/diagnostics15010097 - 3 Jan 2025
Viewed by 1140
Abstract
Background: Over the past decade, several trials and observational studies have validated the use of minimally invasive cardiac interventions as viable treatment options for various cardiac diseases. Transcatheter techniques for severe aortic valve stenosis have rapidly emerged as alternatives to surgical aortic valve [...] Read more.
Background: Over the past decade, several trials and observational studies have validated the use of minimally invasive cardiac interventions as viable treatment options for various cardiac diseases. Transcatheter techniques for severe aortic valve stenosis have rapidly emerged as alternatives to surgical aortic valve replacement in certain patient populations. Additionally, non-surgical treatment options have expanded for conditions affecting other cardiac valves, such as the mitral valve. These emerging minimally invasive interventions complement already well-established endovascular techniques for, among others, atrial septal defect closure, left atrial appendage occlusion and pulmonary vein isolation in patients with atrial fibrillation. Given their non-surgical nature and lack of direct visualisation of the targeted anatomy, these procedures heavily rely on precise pre-procedural radiological imaging for optimal patient selection and procedural success. Method: This paper is based on the expert opinion of the authors and an exhaustive literature research. Results: This manuscript reviews the most commonly employed minimally invasive cardiac interventions, highlighting the essential pre-procedural imaging information and key aspects that must be included in radiological reports to mitigate potential complications. Conclusion: Accurate pre-procedural imaging is crucial for ensuring safe and effective minimally invasive cardiac interventions, underscoring the importance of the radiologist in the pre-procedural work-up of these patients. Full article
(This article belongs to the Special Issue New Trends and Advances in Cardiac Imaging)
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11 pages, 705 KiB  
Article
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease
by Linda M. Reis, Donald Basel, Pierre Bitoun, David S. Walton, Tom Glaser and Elena V. Semina
Genes 2024, 15(12), 1636; https://doi.org/10.3390/genes15121636 - 20 Dec 2024
Viewed by 672
Abstract
Background: Disruption of HCCS results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or [...] Read more.
Background: Disruption of HCCS results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. Methods: Exome sequencing identified variants affecting HCCS. Results: Three novel intragenic variants and two genomic deletions of HCCS were found in individuals with primarily ocular features of MLS. X-inactivation was highly skewed in affected individuals with all three intragenic variants. Corneal opacity was the most penetrant feature (100%). In addition, a duplication of uncertain significance including both HCCS and AMELX was identified in a male with corneal anomalies, glaucoma, an atrial septal defect, and enamel hypoplasia along with a family history of developmental ocular disorders consistent with X-linked inheritance. Conclusion: Although variable expressivity is a known feature of MLS, our findings provide additional support for including HCCS in testing for individuals with isolated ocular anomalies and provide further evidence for its association with congenital aphakia, aniridia/other iris defects, and corneal staphyloma/ectasia. Full article
(This article belongs to the Special Issue Genetics of Eye Development and Diseases)
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