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Journal of Veterinary Cardiology : the... May 2024Double outlet right atrium is a rare congenital cardiac abnormality that has been previously reported in humans and cats, but not in dogs. A double outlet right atrium...
Double outlet right atrium is a rare congenital cardiac abnormality that has been previously reported in humans and cats, but not in dogs. A double outlet right atrium is typically characterized by the presence of a leftward deviation of the interatrial septum and atrial septal defect. Therefore, the right atrium drains into both ventricles. The unique features consistent with double outlet right atrium were identified by transthoracic echocardiography and computed tomography in a puppy. This case report describes the clinical, echocardiographic, and tomographic findings of a five-month-old Cocker Spaniel diagnosed with this rare congenital abnormality.
PubMed: 38851121
DOI: 10.1016/j.jvc.2024.05.001 -
European Journal of Case Reports in... 2024Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include...
BACKGROUND
Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. .
CASE 1
A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms.
CASE 2
A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management.
CONCLUSION
PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.
LEARNING POINTS
Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.
PubMed: 38846669
DOI: 10.12890/2024_004545 -
Clinical Case Reports Jun 2024The key takeaway from this clinical scenario is to choose the most appropriate and reasonable treatment plan when dealing with a patient who has atrial septal defect...
KEY CLINICAL MESSAGE
The key takeaway from this clinical scenario is to choose the most appropriate and reasonable treatment plan when dealing with a patient who has atrial septal defect (ASD) and concurrent atrial and mediastinal masses. In such cases, a heart-oncology team should make the therapeutic decision.
ABSTRACT
Right atrial masses are not pretty rare and might be a diagnostic challenge. Thrombosis, tumors, and vegetations are primary differential diagnoses. Workup for these masses usually includes multimodality imaging and biopsy in selected cases. We report a case of a 37-year-old lady who presented with cough, dyspnea, and head and neck swelling after a cesarean section. Echocardiography revealed a right atrial mass accompanied by a secundum type atrial septal defect (ASD). Pulmonary CT Angiography was performed, in which a lobulated mass in the anterior mediastinum was detected, and a heart-oncology team made the therapeutic decision. The patient was scheduled for surgical ASD closure and concomitant tissue biopsy. The pathology results were in favor of poorly differentiated germ cell tumors, and chemotherapy was started following the surgery. After two sessions of chemotherapy, the tumor did not respond to the primary regimen. Thus, an updated regimen was initiated. Compliance with the updated regimen was acceptable, and the patient is currently under treatment and follow-up.
PubMed: 38845799
DOI: 10.1002/ccr3.8916 -
BMC Cardiovascular Disorders Jun 2024Patients with previous interatrial shunt device (IASD) implantation may face greater challenges during future left atrial interventional procedures. Herein, we report...
Patients with previous interatrial shunt device (IASD) implantation may face greater challenges during future left atrial interventional procedures. Herein, we report the first case of left atrial appendage closure (LAAC) in a patient with previous IASD implantation. The patient successfully underwent LAAC using the LAmbre device without complications.
Topics: Humans; Atrial Appendage; Atrial Fibrillation; Treatment Outcome; Cardiac Catheterization; Male; Female; Echocardiography, Transesophageal; Aged; Atrial Function, Left; Foramen Ovale, Patent; Left Atrial Appendage Closure
PubMed: 38844866
DOI: 10.1186/s12872-024-03904-0 -
Europace : European Pacing,... Jun 2024
Topics: Humans; Foramen Ovale, Patent; Atrial Fibrillation; Male; Female; Embolic Stroke; Middle Aged; Aged; Treatment Outcome; Risk Factors
PubMed: 38842105
DOI: 10.1093/europace/euae141 -
Molecular Syndromology Jun 2024The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the gene (SIN3...
INTRODUCTION
The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmental delay, intellectual disability, microcephaly, short stature, and subtle anomalies on brain magnetic resonance imaging (MRI). To date, about 50 patients have been reported in the medical literature.
PATIENT PRESENTATION
In this article, we reported a patient with classic findings of WITKOS including global developmental delay, microcephaly, hypotonia, vomiting, malnutrition, autistic and dysmorphic facial features, and cardiac abnormalities. Also, a barium esophagogram suggested severe motility disorder and gastroesophageal reflux disease. Affymetrix CytoScan 750K microarray showed a de novo 1.6-Mb deletion at 15q24.1q24.2, including the whole gene. We have also summarized the clinical features of WITKOS patients in the medical literature and cardiac abnormalities detected in 4 out of 10 patients in studies that clearly state that cardiac examination was performed in the patients.
CONCLUSION
Our findings showed that cardiac defects are not uncommon findings in WITKOS. Physicians should also be aware of reflux disease and motility disorder in patients with feeding difficulty together with early cardiac examination in terms of an improved quality of life in WITKOS patients.
PubMed: 38841330
DOI: 10.1159/000536072 -
Biomedical Research (Tokyo, Japan) 2024Racial and ethnic differences in the prevalence of patent foramen ovale have been suggested, but there are insufficient data to confirm the situation. Studies have also...
Racial and ethnic differences in the prevalence of patent foramen ovale have been suggested, but there are insufficient data to confirm the situation. Studies have also not investigated detailed morphological changes in the fossa ovalis by age. This study therefore aimed to clarify the characteristics of the fossa ovalis and determine the frequency of patent foramen ovale in Japanese people, using materials from forensic autopsies. A total of 359 hearts were obtained during forensic autopsies (from 223 males and 136 females, aged from 0 to 94 years). Overall, prevalence of patent foramen ovale was 12.5%, but it was significantly higher among those under 20 years old (66.7% in males, 38.5% in females). The area of the fossa ovalis linearly increased with age in both sexes. The prevalence of patent foramen ovale was lower in Japanese adults than previously found in either White or Black people. The ratio of the area of the fossa ovalis to the heart weight was nearly constant.
Topics: Humans; Male; Female; Foramen Ovale, Patent; Adult; Aged; Autopsy; Middle Aged; Adolescent; Aged, 80 and over; Prevalence; Japan; Child; Infant; Child, Preschool; Young Adult; Infant, Newborn; Asian People; East Asian People
PubMed: 38839356
DOI: 10.2220/biomedres.45.135 -
Interventional Cardiology Clinics Jul 2024Hybrid interventions in congenital heart disease (CHD) embody the inherent collaboration between congenital interventional cardiology and cardiothoracic surgery. Hybrid... (Review)
Review
Hybrid interventions in congenital heart disease (CHD) embody the inherent collaboration between congenital interventional cardiology and cardiothoracic surgery. Hybrid approaches to complex and common lesions provide the opportunity to circumvent the limitations of patient size, vascular access, severity of illness, and anatomy that would otherwise be prohibitive to surgical and percutaneous techniques alone. This review describes several important hybrid approaches to interventions in CHD.
Topics: Humans; Heart Defects, Congenital; Cardiac Catheterization; Cardiac Surgical Procedures
PubMed: 38839172
DOI: 10.1016/j.iccl.2024.02.005 -
Interventional Cardiology Clinics Jul 2024Congenital heart disease (CHD) is the most common congenital birth defect with an incidence of 1 in 100. Current survival to adulthood is expected in 9 out of 10... (Review)
Review
Congenital heart disease (CHD) is the most common congenital birth defect with an incidence of 1 in 100. Current survival to adulthood is expected in 9 out of 10 children with severe CHD as the diagnostic, interventional, and surgical success improves. The adult CHD (ACHD) population is increasingly diverse, reflecting the broad spectrum of CHD and evolution of surgical techniques to improve survival. Similarly, transcatheter interventions have seen exponential growth and creativity to reduce the need for repeat sternotomies. This article focuses on newer data and evolving techniques for transcatheter interventions specific to certain ACHD populations.
Topics: Humans; Heart Defects, Congenital; Cardiac Catheterization; Adult; Cardiac Surgical Procedures
PubMed: 38839171
DOI: 10.1016/j.iccl.2024.03.004 -
Current Understanding of Indications, Technical Aspects and Outcomes of Fetal Cardiac Interventions.Interventional Cardiology Clinics Jul 2024With the improvement in the detection of congenital heart disease in fetal life, fetal cardiac interventions are pushing the envelope in hopes of either altering the... (Review)
Review
With the improvement in the detection of congenital heart disease in fetal life, fetal cardiac interventions are pushing the envelope in hopes of either altering the natural history of disease or improving survival in certain high-risk lesions. These interventions include fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome, fetal atrial septoplasty with or without atrial septal stenting for hypoplastic left heart syndrome and variants with intact or severely restrictive atrial septum, and fetal pulmonary valvuloplasty for severe pulmonary stenosis or pulmonary atresia with intact ventricular septum. This review discusses their indications, technical aspects, and outcomes based on available literature.
Topics: Humans; Heart Defects, Congenital; Pregnancy; Female; Fetal Heart; Ultrasonography, Prenatal; Cardiac Surgical Procedures; Pulmonary Atresia; Fetal Diseases; Treatment Outcome
PubMed: 38839166
DOI: 10.1016/j.iccl.2024.03.005