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Cureus Apr 2024Aneurysmal atrial septal defects (ASDs) represent a rare subset of congenital cardiac anomalies, characterized by bulging of the interatrial septum. This condition poses...
Aneurysmal atrial septal defects (ASDs) represent a rare subset of congenital cardiac anomalies, characterized by bulging of the interatrial septum. This condition poses unique challenges in diagnosis, management, and outcomes due to its variable clinical presentation and associated complications. While echocardiography remains the cornerstone of diagnosis, advanced imaging modalities such as cardiac magnetic resonance imaging (MRI) and computed tomography (CT) may provide additional insights. Optimal management strategies for aneurysmal ASDs require careful consideration of patient-specific factors, including the size and location of the defect, associated cardiovascular abnormalities, and the presence of pulmonary hypertension. Surgical repair, whether through conventional open-heart techniques or transcatheter interventions, remains the primary treatment modality; however, the approach may vary based on individual patient characteristics. Anesthetic considerations, including hemodynamic monitoring and perioperative care, are crucial in optimizing outcomes and reducing the risk of complications during surgical interventions. Long-term follow-up is essential to monitor potential complications such as residual shunting, arrhythmias, and the development of pulmonary vascular disease. Collaborative efforts among cardiologists, cardiothoracic surgeons, anesthesiologists, and other multidisciplinary specialists are paramount in providing comprehensive care for patients with aneurysmal ASDs.
PubMed: 38800289
DOI: 10.7759/cureus.59030 -
Narra J Apr 2024Stroke ranks among the prevalent factors contributing to child mortality. Cryptogenic stroke has been linked with patent foramen ovale (PFO), which has been suggested as...
Stroke ranks among the prevalent factors contributing to child mortality. Cryptogenic stroke has been linked with patent foramen ovale (PFO), which has been suggested as a possible route for thrombus, gas bubble, or another particulate that comes through systemic venous circulation to the brain artery. Yet, the most effective approach for managing cryptogenic stroke involving a PFO remains uncertain. This case aims to report a PFO patient with complications of stroke. A 5-year-old girl was admitted to the emergency department at Dr. Zainoel Abidin Hospital, Banda Aceh, Indonesia, after experiencing numbness and weakness on her right side and a sudden onset of slurred speech three days before admission. Laboratory findings only showed leukocytosis, while coagulation tests were normal. Non-contrast brain CT revealed an occurrence of cerebral infarction in the left hemisphere. Transcranial Doppler showed no atherosclerosis in cerebral arteries, and carotid Doppler ultrasound results were reported normal. Transthoracic echocardiography showed a PFO with the right-to-left shunt. The patient was treated with an intravenous infusion of citicoline 250 mg twice daily, oral aspirin 80 mg daily, and oral mecobalamin 250 mg daily and was planned to undergo a PFO closure procedure. However, the patient's parents rejected the plan to perform a PFO closure procedure. PFO has the potential to be a contributing factor to cryptogenic stroke among children. PFO closure followed by antiplatelet therapy for a couple of months has been shown to outperform medical therapy alone. However, additional evaluation should be done to cautiously consider the PFO closure procedure in children.
Topics: Humans; Female; Foramen Ovale, Patent; Child, Preschool; Stroke; Indonesia; Ischemic Stroke
PubMed: 38798870
DOI: 10.52225/narra.v4i1.273 -
International Journal of Surgery Case... Jul 2024Partially anomalous pulmonary venous connection (PAPVC) is a rare congenital heart disease, often concomitant with atrial septal defects (ASDs). PAPVC usually tends to...
INTRODUCTION AND IMPORTANCE
Partially anomalous pulmonary venous connection (PAPVC) is a rare congenital heart disease, often concomitant with atrial septal defects (ASDs). PAPVC usually tends to be treated by surgery, but the case we report will open up new perspectives for the interventional treatment of PAPVC present with ASD.
CASE PRESENTATION
We present a case of a 2-year-old 11 kg boy transthoracic echocardiography showed secundum-type ASD. A supracardiac-PAPVC was accidentally detected during cardiac catheterization, and an abnormal pulmonary vein connection was detected with a vertical vein (VV) opening. Ultimately, ASD and VV were both occluded.
CLINICAL DISCUSSION
Surgical therapy of PAPVC is the first line treatment of most centers in the world. However, the main complications after surgical repair of PAPVC raise our concerns, such as pulmonary stenosis, caval vein stenosis and sinus node dysfunction. Therefore, percutaneous closure of PAPVC can be an alternative method. This case of percutaneous interventional closure of ASD and supracardiac PAPVC through a vertical vein in the same surgery was first reported. Patients with ASD tend to have missed diagnoses of PAPVC. We can evaluate it by transesophageal echocardiography (TEE), cardiac magnetic resonance imaging (CMR) and computed tomography (CT).
CONCLUSIONS
This case suggests that the effect of interventional therapy is quite reliable. For children with ASD, attention should be paid to the omission of the presence or absence of PAPVC before surgery. During interventional therapy, a guide wire rather than a catheter should be preferred to explore the atrial septum and pulmonary veins to avoid a missed diagnosis of PAPVC.
PubMed: 38795410
DOI: 10.1016/j.ijscr.2024.109783 -
Medicina (Kaunas, Lithuania) Apr 2024Percutaneous closure of the patent foramen ovale (PFO) is generally regarded as a safe and effective procedure, indicated in patients with a prior PFO-associated stroke....
Percutaneous closure of the patent foramen ovale (PFO) is generally regarded as a safe and effective procedure, indicated in patients with a prior PFO-associated stroke. While it is highly safe, rarely, it could be accompanied by a migration of the device, mainly caused by the interplay of a specific PFO morphology and inappropriate device sizing. Herein, we outline a seldom-observed complication of an unintentional detachment of the PFO closure device during implantation, leading to its migration into the abdominal aorta, and a unique management approach. Due to the inability to recapture the occluder with a snare, which is considered to be a mainstay of endovascular retrieval methods, two coronary guidewires were maneuvered through the mesh of the occluder and then captured with a snare proximally to the occluder. This innovative dual-wire-snare system was carefully pulled to the common femoral artery, a position deemed suitable for surgical extraction via arteriotomy, which was achieved successfully.
Topics: Humans; Foramen Ovale, Patent; Septal Occluder Device; Female; Embolism; Middle Aged
PubMed: 38792900
DOI: 10.3390/medicina60050717 -
Journal of Clinical Medicine May 2024Ischemic stroke is the second, and pulmonary embolism (PE) is the third most common cardiovascular cause of death after myocardial infarction. Data regarding risk...
Ischemic stroke is the second, and pulmonary embolism (PE) is the third most common cardiovascular cause of death after myocardial infarction. Data regarding risk factors for ischemic stroke in patients with acute PE are limited. Patients were selected by screening the German nationwide in-patient sample for PE (ICD-code I26) and were stratified by ischemic stroke (ICD code I63) and compared. The nationwide in-patient sample comprised 346,586 hospitalized PE patients (53.3% females) in Germany from 2011 to 2014; among these, 6704 (1.9%) patients had additionally an ischemic stroke. PE patients with ischemic stroke had a higher in-hospital mortality rate than those without (28.9% vs. 14.5%, < 0.001). Ischemic stroke was independently associated with in-hospital death (OR 2.424, 95%CI 2.278-2.579, < 0.001). Deep venous thrombosis and/or thrombophlebitis (DVT) combined with heart septal defect (OR 24.714 [95%CI 20.693-29.517], < 0.001) as well as atrial fibrillation/flutter (OR 2.060 [95%CI 1.943-2.183], < 0.001) were independent risk factors for stroke in PE patients. Systemic thrombolysis was associated with a better survival in PE patients with ischemic thrombolysis who underwent cardio-pulmonary resuscitation (CPR, OR 0.55 [95%CI 0.36-0.84], = 0.006). Ischemic stroke did negatively affect the survival of PE. Combination of DVT and heart septal defect and atrial fibrillation/flutter were strong and independent risk factors for ischemic stroke in PE patients. In PE patients with ischemic stroke, who had to underwent CPR, systemic thrombolysis was associated with improved survival.
PubMed: 38792272
DOI: 10.3390/jcm13102730 -
International Journal of Molecular... May 2024Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of...
Fibrillin-1 and fibrillin-2, encoded by and , 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 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 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 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 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling.
Topics: Humans; Fibrillin-1; Marfan Syndrome; Fibrillin-2; Male; Infant, Newborn; Heart Defects, Congenital; High-Throughput Nucleotide Sequencing; Female; Polymorphism, Single Nucleotide; Mutation; Genomics; Phenotype; Exome Sequencing; Adipokines
PubMed: 38791509
DOI: 10.3390/ijms25105469 -
The Journal of Invasive Cardiology May 2024A 37-year-old man was referred to our medical center with a diagnosis of Eisenmenger syndrome due to an atrial septal defect (ASD). At admission he had central cyanosis,...
A 37-year-old man was referred to our medical center with a diagnosis of Eisenmenger syndrome due to an atrial septal defect (ASD). At admission he had central cyanosis, acrocyanosis, and progressive effort dyspnea; his symptoms improved during lying position.
PubMed: 38787924
DOI: 10.25270/jic/24.00153 -
Circulation Journal : Official Journal... May 2024
PubMed: 38777766
DOI: 10.1253/circj.CJ-24-0305 -
Heart Views : the Official Journal of... 20243-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a rare autosomal recessive disease of leucine catabolism. 3-MCC deficiency may lead to metabolic decompensation...
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a rare autosomal recessive disease of leucine catabolism. 3-MCC deficiency may lead to metabolic decompensation under stress; however, outcomes of elective surgery requiring cardiopulmonary bypass (CPB) are unknown. We report a 4-year-old girl with asymptomatic 3-MCC deficiency and atrial septal defect (ASD) who's undergone surgical ASD repair under CPB. She was otherwise normal developmentally and medically. Although patients with 3-MCC may face metabolic crises, the ASD repair under CPB was uneventful.
PubMed: 38774543
DOI: 10.4103/heartviews.heartviews_64_23 -
Cureus Apr 2024Tricuspid atresia, a critical congenital heart defect (CHD), accounts for approximately 1% of all cases of CHDs. When tricuspid atresia is coupled with numerous other...
Tricuspid atresia, a critical congenital heart defect (CHD), accounts for approximately 1% of all cases of CHDs. When tricuspid atresia is coupled with numerous other unexpected congenital cardiac anomalies, a patient's condition becomes more serious and more complex. We present a case that demonstrates the stepwise approach to the holistic treatment of congenital tricuspid atresia in the presence of normally related great vessels, a large ventricular septal defect (VSD), atrial septal defect (ASD), and trivial patent ductus arteriosus (PDA). While expanding upon the implementation of chest X-ray imaging, serial transthoracic echocardiogram (TTE) imaging, and the balloon atrial septostomy (BAS) procedure, we also provide insight into the multidisciplinary team-based approach utilized for this patient's case. This case illustrates a rare critical CHD coupled with other, more common congenital anomalies, and suggests that with multidisciplinary management and treatment, it is possible the mortality rates associated with this diagnosis could decline.
PubMed: 38770493
DOI: 10.7759/cureus.58596