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The American Journal of Case Reports Jun 2024BACKGROUND Persistent truncus arteriosus is a rare congenital cyanotic heart defect characterized by a single ventricular outflow tract. Without surgical intervention,...
BACKGROUND Persistent truncus arteriosus is a rare congenital cyanotic heart defect characterized by a single ventricular outflow tract. Without surgical intervention, it has a poor prognosis in infancy. Here, we report an adult female patient with uncorrected truncus arteriosus type I, who presented with acute-onset abdominal pain due to torsion of a small bowel gastrointestinal stromal tumor (GIST). CASE REPORT A 41-year-old woman came to our Emergency Department with acute-onset lower abdominal pain for 2 days. Congenital heart disease, truncus arteriosus, had been diagnosed at birth, and there had been no surgical intervention. Abdominal computed tomography revealed a 10×9×12-cm mixed-density mass in the pelvic capacity. Transthoracic echocardiography revealed a 33-mm ventricular septal defect. The ascending aorta originated mainly from the right ventricle, and the pulmonary artery originated from the beginning of the aorta (type I truncus arteriosus, according to Collett and Edwards classification). After a quick and detailed preoperative workup, the patient underwent tumor resection by open surgery with general anesthesia. CONCLUSIONS This is the first case to report emergency surgery for a patient with uncorrected persistent truncus arteriosus due to torsion of a small bowel GIST. A multidisciplinary team with deep understanding of the disease entity was crucial. By considering the fixed hemodynamic and respiratory physiology, overtreatment and unrealistic goals were avoided. Eventually, the patient was discharged after being hospitalized for 2 weeks.
Topics: Humans; Female; Adult; Gastrointestinal Stromal Tumors; Torsion Abnormality; Truncus Arteriosus, Persistent; Intestine, Small
PubMed: 38833428
DOI: 10.12659/AJCR.943604 -
Sultan Qaboos University Medical Journal May 2024
Topics: Humans; Aortopulmonary Septal Defect; Male; Female; Heart Defects, Congenital; Echocardiography
PubMed: 38828251
DOI: 10.18295/squmj.3.2024.026 -
Annals of Pediatric Cardiology 2023Berry syndrome is an extremely rare constellation of several congenital cardiac anomalies consisting of aortopulmonary window, aortic origin of the right pulmonary...
Berry syndrome is an extremely rare constellation of several congenital cardiac anomalies consisting of aortopulmonary window, aortic origin of the right pulmonary artery (AORPA), interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum with high neonatal mortality rates. The disease is fatal with high mortality (90%) in the neonatal period with surviving patients mostly developing pulmonary hypertension. We describe the clinical presentation and diagnostic clues in two patients with Berry syndrome.
PubMed: 38766446
DOI: 10.4103/apc.apc_109_23 -
JACC. Case Reports May 2024We report a case of anomalous origin of the right coronary artery from the pulmonary artery in a patient with pulmonary atresia, ventricular septal defect, and major...
We report a case of anomalous origin of the right coronary artery from the pulmonary artery in a patient with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. The diagnosis was made during a proposed hybrid approach to stent the native right ventricular outflow tract, and an alternative surgical strategy was created.
PubMed: 38601840
DOI: 10.1016/j.jaccas.2024.102318 -
Diagnostics (Basel, Switzerland) Mar 2024Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning...
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15-40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of or a 5q35 deletion encompassing , who were followed at Bambino Gesù Children's Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in , while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2-37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed.
PubMed: 38535015
DOI: 10.3390/diagnostics14060594 -
Nagoya Journal of Medical Science Feb 2024The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report...
The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with 22q11.2 deletion syndrome and immunological abnormalities. Ultrasonography revealed pulmonary atresia, ventricular septal defect, major aortopulmonary collateral artery, and thymic hypoplasia. His serum chemistry tests on admission revealed immunoglobulin G, A, and M levels of 1,547 mg/dL, 70 mg/dL, and 274 mg/dL, respectively. A surface antigen analysis of the peripheral lymphocytes using flow cytometry revealed the following: relatively low CD4-positive T-cell levels (18.1%; 1,767/μL), very high CD8-positive T-cell levels (58.9%; 5,751/μL), and CD4/CD8 ratio of 0.31. The level of T-cell receptor excision circles was relatively low at 17.5 copies/μL. After birth, the CD8-positive T-cell level began to gradually decrease, whereas the CD4/CD8 ratio began to increase. Thrombocytopenia, neutropenia, and skin petechiae were observed on admission. However, the condition improved. Treatment for congenital cytomegalovirus infection was not provided due to the absence of viremia. Unfortunately, the patient died suddenly on the 158 day of life, and the cause of death was unknown. To the best of our knowledge, no association between 22q11 deletion syndrome and cCMV has been described in the recent medical literature. According to the calculation, around one newborn infant who have both 22q11 deletion syndrome and cCMV infection will be born each year in Japan. Healthcare providers should pay more attention to this medical situation in the future.
Topics: Infant; Humans; Infant, Newborn; DiGeorge Syndrome; Infant, Premature; Heart Defects, Congenital; Pulmonary Atresia; Cytomegalovirus Infections
PubMed: 38505727
DOI: 10.18999/nagjms.86.1.149 -
BMC Pregnancy and Childbirth Mar 2024Prenatal diagnosis of Berry syndrome, a rare combination of cardiac anomalies including aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA),...
BACKGROUND
Prenatal diagnosis of Berry syndrome, a rare combination of cardiac anomalies including aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), interrupted aortic arch (IAA), hypoplastic aortic arch, or coarctation of the aorta (COA), poses a significant challenge. Due to the rarity of the disease, and the limited case reports available to features the complex malformation of Berry syndrome postpartum, this article introduces an innovative approach to visually showcase this unusual disease. The proposed method provides a comprehensive display of the structural deformities, offering valuable insights for clinical practitioners seeking to comprehend this condition.
CASE PRESENTATION
In this report, we present a case where fetal echocardiography aided in diagnosing Berry syndrome, which was later confirmed through postpartum cardiovascular casting. Our experience highlights the importance of using the three-vessel view to diagnose APW and aortic origin of the right pulmonary artery. Additionally, obtaining true cross-sectional and sagittal views by continuously scanning from the three-vessel-trachea view to the long-axis view of the aortic arch is necessary to image IAA or coarctation of the aortic arch.
CONCLUSIONS
Early and accurate prenatal diagnosis of Berry syndrome is feasible and our cardiovascular cast can perfectly display the microvascular morphology of the fetal heart, which may have great application prospects for postpartum diagnosis and teaching of complex cardiac abnormalities.
Topics: Pregnancy; Female; Humans; Cross-Sectional Studies; Aorta, Thoracic; Aorta; Heart Defects, Congenital; Aortopulmonary Septal Defect; Pulmonary Artery
PubMed: 38475705
DOI: 10.1186/s12884-024-06340-2 -
Heliyon Mar 2024With the development of perioperative treatment, the results of the unifocalization and corrective repair of pulmonary atresia/ventricular septal defect with major...
Pulmonary flow-study can predict in-hospital prognosis of unifocalization and corrective repair of pulmonary atresia/ventricular septal defect with major aortopulmonary collateral arteries.
OBJECTIVES
With the development of perioperative treatment, the results of the unifocalization and corrective repair of pulmonary atresia/ventricular septal defect with major aortopulmonary collateral arteries have been significantly improved. However, the in-hospital recovery is quite different individually. Therefore, it is essential to find prognostic indicators to avoid unsatisfactory recovery.
DESIGN
This was a case-control study.
SETTING
The study was conducted in the national center for cardiovascular diseases in China.
PARTICIPANTS
Pediatric patients between 2014 and 2022.
INTERVENTIONS
None.
MEASUREMENTS & MAIN RESULTS
A total of 19 patients were included. The possible prognostic indicators included were commonly used clinical data. Unsatisfactory postoperative recovery was defined as mechanical ventilation≥ 7 days and/or in-hospital death. Satisfactory postoperative recovery was defined as mechanical ventilation<7 days and survival at discharge. We separated patients into two groups and compared the peri-operative data through univariable analysis. There were 8 patients in unsatisfactory recovery group (including 1 death) and 11 patients in satisfactory recovery group. Among all the possible prognostic indicators, through univariable analysis, pulmonary arterial pressure in pulmonary flow study was statistically different (p = 0.027 < 0.05). The ROC curve showed that the area under curve and cut-off values in predicting satisfactory recovery were 0.841 and 22 mmHg; the corresponding sensitivity and specificity were 100% and 72.7%. There was no statistical difference between the two groups in ventricular septal fenestration and pulmonary hypertension targeting drugs.
CONCLUSION
A pulmonary arterial pressure <22 mmHg in pulmonary flow study may avoid unsatisfactory in-hospital recovery after unifocalization and corrective repair of pulmonary atresia/ventricular septal defect with major aortopulmonary collateral arteries.
PubMed: 38444466
DOI: 10.1016/j.heliyon.2024.e27109