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Journal of Clinical Medicine Jun 2024Raghib syndrome is a rare malformation complex consisting of the drainage of the left superior vena cava (LSVC) into the left atrium, ostial atresia of the coronary...
Raghib syndrome is a rare malformation complex consisting of the drainage of the left superior vena cava (LSVC) into the left atrium, ostial atresia of the coronary sinus and an atrial septal defect (ASD). This report aims to present the case of a child newly diagnosed with Raghib syndrome, complicated by pulmonary arterial hypertension, and to review previously published cases with the same diagnosis. A six-year-old female patient presented with signs and symptoms of heart failure (Ross III), reduced exercise tolerance and severe delay in stature and ponderal development. The imagistic work-up included echocardiography, followed by computer tomography (CT) and magnetic resonance imaging (MRI), through which a diagnosis of Raghib syndrome was established, complicated by pulmonary hypertension. As in other cases presented in the literature, MRI allowed for an accurate diagnosis, detecting the absent coronary sinus. The decision regarding the surgical closure of the ASD was made, with the patient having a favorable clinical evolution but with the persistence of elevated pulmonary artery pressure, for which Sildenafil therapy was instituted. The malformation complex consisting of an atrial septal defect, ostium atresia of the coronary sinus, uncovered coronary sinus, and persistent left superior vena cava, as identified through multiple imagistic investigations, was suggestive of the rare diagnosis of Raghib syndrome in this case. Among the limited number of cases of Raghib syndrome available in the literature, the present case is distinguished by the severity of the pulmonary artery hypertension at a very young age and in the absence of other concurrent cardiac malformations.
PubMed: 38930151
DOI: 10.3390/jcm13123623 -
Echocardiography (Mount Kisco, N.Y.) Jun 2024The noninvasive right ventricular pressure-strain loop (PSL) represents a novel method for the quantitative assessment of right ventricular myocardial function. Given...
Quantitative evaluation of right ventricular myocardial function changes in patients with atrial septal defect before and after occlusion by noninvasive right ventricular pressure-strain loop.
OBJECTIVE
The noninvasive right ventricular pressure-strain loop (PSL) represents a novel method for the quantitative assessment of right ventricular myocardial function. Given that atrial septal defect (ASD) is a prevalent congenital heart anomaly associated with right ventricular volume overload, this study aimed to quantitatively assess the myocardial function of the right ventricle in ASD patients pre- and post-occlusion by noninvasive right ventricular PSL.
METHODS
This study included 36 patients diagnosed with secundum ASD group and 30 healthy adults (control group). We compared conventional right ventricular echocardiographic parameters, right ventricular strain, and myocardial work in the ASD group before occlusion, two days post-occlusion, and three months post-occlusion, with those in the control group.
RESULTS
Prior to and two days following occlusion, the ASD group exhibited higher right ventricular global work index (RVGWI), right ventricular global wasted work (RVGWW), and right ventricular global constructive work (RVGCW) compared to the control group (P < .05). Within the ASD group, post-occlusion, RVGWI, RVGCW, and RVGWW values were significantly reduced compared to pre-occlusion values (P < .001). Furthermore, RVGWI and RVGCW showed a significant decrease three months after occlusion compared to two days post-occlusion (P < .05). Multivariate regression analysis identified ASD diameter and pulmonary artery systolic pressure (PASP) as independent predictors of RVGWI (β = .405, P < .001; β = 2.307, P = .037) and RVGCW(β = .350, P<.001; β = 1.967, P = .023).
CONCLUSIONS
The noninvasive right ventricular PSL effectively demonstrates the alterations in right ventricular myocardial function in ASD patients, pre- and post-occlusion. The metrics of right ventricular myocardial work (RVMW) offer a novel indicator for evaluating right ventricular myocardial function in these patients. Moreover, ASD diameter and PASP emerge as independent determinants of RVGWI and RVGCW.
Topics: Humans; Female; Male; Heart Septal Defects, Atrial; Adult; Heart Ventricles; Echocardiography; Ventricular Function, Right; Ventricular Dysfunction, Right; Ventricular Pressure; Reproducibility of Results
PubMed: 38924593
DOI: 10.1111/echo.15868 -
Clinical and Translational Medicine Jul 2024
Topics: Forkhead Transcription Factors; Humans; Heart Septal Defects, Atrial; Animals
PubMed: 38924312
DOI: 10.1002/ctm2.1676 -
Journal of Cardiothoracic and Vascular... Jun 2024
"Concomitant Percutaneous Atrial Septal Defect Closure With an Amplatzer Septal Occluder and HeartMate 3 Implantation for High-risk Heart Failure Patients: A Novel Hybrid Strategy".
PubMed: 38918093
DOI: 10.1053/j.jvca.2024.06.005 -
Cureus Jun 2024Sinus venosus atrial septal defects (SVASD) associated with partial anomalous pulmonary venous return (PAPVR) can be overlooked as a source of dyspnea in adult patients...
Sinus venosus atrial septal defects (SVASD) associated with partial anomalous pulmonary venous return (PAPVR) can be overlooked as a source of dyspnea in adult patients with pulmonary hypertension. We present the case of a 61-year-old male with exertional dyspnea initially attributed to pulmonary hypertension, who was subsequently diagnosed with SVASD and right superior PAPVR. This case underscores the critical importance of maintaining high clinical awareness and utilizing multimodal imaging techniques in cardiology to accurately diagnose and manage pulmonary hypertension secondary to congenital heart disease. Timely surgical correction can significantly improve morbidity and mortality outcomes.
PubMed: 38915839
DOI: 10.7759/cureus.62935 -
European Heart Journal. Case Reports Jun 2024Fontan surgery aims to palliate univentricular congenital heart diseases in which biventricular repair is not feasible. A large spectrum of early and late complications...
BACKGROUND
Fontan surgery aims to palliate univentricular congenital heart diseases in which biventricular repair is not feasible. A large spectrum of early and late complications has been described in literature. However, pulmonary thromboembolism represents a rare complication in these patients, leading to a scarcity of evidence regarding diagnosis and treatment strategies.
CASE SUMMARY
We present a case of a 27-year-old woman born with a complex cyanotic congenital heart disease, namely pulmonary and tricuspid stenosis with subaortic interventricular communication and atrial septal defect, who underwent palliation surgery with Blalock-Taussig shunt, bidirectional Glenn, and extracardiac Fontan. She developed acute respiratory failure and was admitted to the hospital, being diagnosed with bilateral thromboembolism. Since she was haemodynamically stable, initially, a conservative approach was chosen. However, due to no clinical improvement, she subsequently underwent bilateral thromboaspiration with restoration of pulmonary circulation.
DISCUSSION
Due to the unique Fontan pathophysiology, the possible physiological and clinical implications of pulmonary thromboembolism in this condition are profound. Thus, care and imaging tests in specialized centres are important as the management of these patients is different from those with biventricular physiology.
PubMed: 38915741
DOI: 10.1093/ehjcr/ytae190 -
Journal of Cardiology Jun 2024The left atrium approach for atrial fibrillation (AF) ablation requires an atrial transseptal puncture that may cause an iatrogenic atrial septal defect (iASD). This...
BACKGROUND
The left atrium approach for atrial fibrillation (AF) ablation requires an atrial transseptal puncture that may cause an iatrogenic atrial septal defect (iASD). This study aimed to investigate the incidence and predictors of iASD in catheter ablation, assessed by transthoracic echocardiography (TTE), a relatively non-invasive technique frequently employed in follow-up.
METHODS
This retrospective study included 639 patients (489 male; 60.2 ± 10.7 years) who underwent initial catheter ablation for AF between May 2005 and June 2018. All patients underwent preprocedural transesophageal echocardiography (pre-TEE), preprocedural TTE (pre-TTE), and TTE one day after the procedure (post-TTE). iASD incidence after 6 months (6 M), preprocedural characteristics, and procedure methods were evaluated.
RESULTS
Patent foramen ovale (PFO) was diagnosed in 42 patients (6.6 %) using pre-TEE and in 11 patients using pre-TTE (26.2 % of the patients with PFO in pre-TEE). Among the 597 patients without PFO, 497 underwent 6 M-TTE. iASD was observed in 59.6 % of patients using post-TTE and 4.6 % using 6 M-TTE. In the univariate logistic regression analysis, the total diameter of the sheath through the septum (odds ratio 1.15, p < 0.001) or two sheaths through a single puncture (odds ratio 4.17, p = 0.001) were independent risk factors on iASD incidence in 6 M-TTE. iASD was also more likely to occur via cryoballoon ablation using a larger sheath than radiofrequency catheter ablation.
CONCLUSIONS
iASD was not a rare complication. A larger sheath diameter or two sheaths through a single puncture were associated with the incidence of iASD.
PubMed: 38914280
DOI: 10.1016/j.jjcc.2024.06.007 -
JACC. Case Reports Jul 2024A patient presented with severe right heart failure due to a large LV-to-RA shunt with left-to-right shunting and torrential tricuspid regurgitation 6-weeks following...
A patient presented with severe right heart failure due to a large LV-to-RA shunt with left-to-right shunting and torrential tricuspid regurgitation 6-weeks following surgical sub-aortic stenosis resection. Retrograde delivery of an Occlutech ventricular septal defect device produced instantaneous resolution of shunt, reduction in tricuspid regurgitation, and impressive diuresis of 28 kg.
PubMed: 38912319
DOI: 10.1016/j.jaccas.2024.102389 -
Pediatric Investigation Jun 2024In patients with transposition of the great arteries, the continuation of prostaglandin E1 is more frequent in patients with intact ventricular septum in comparison to...
In patients with transposition of the great arteries, the continuation of prostaglandin E1 is more frequent in patients with intact ventricular septum in comparison to patients with ventricular septal defect. Ballon atrial septostomy did not eliminate the need for prostaglandin E1 infusion until the time of surgery in both subgroups of patients.
PubMed: 38910849
DOI: 10.1002/ped4.12425 -
Cureus May 2024Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be...
Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be related to several clinical features, including structural cardiac anomalies, developmental delay, anomalies of the corpus callosum, and a variety of facial dysmorphisms. In addition, feeding difficulties and neonatal hypotonia might also present. The diagnosis of this disorder is based on molecular genetic testing to detect the causative pathogenic variants. Here, we report a case of a one-year-old girl from Yemen, residing in Bahrain, with a CDK13-related disorder who was found to have an unusual association of abdominal situs inversus along with multiple structural cardiac anomalies, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, mild coarctation of the aorta, dilated coronary sinuses, and mild regurgitation in the tricuspid valve. Moreover, facial dysmorphism including medial epicanthal folds, posteriorly rotated ears, and a depressed nasal bridge was also noted. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay. The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. The last infection episode was at the age of one year. Thereafter, the patient underwent cardiac repair of the ventricular septal defect followed by no more infection episodes until the age of one year and two months. The diagnosis of CDK13 was confirmed by a whole exome sequencing test which demonstrated a novel missense variant in exon 14 of the gene as a variant of uncertain significance in a heterozygous state.
PubMed: 38910624
DOI: 10.7759/cureus.60970