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Pediatric Radiology Feb 2024Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We...
Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We describe a case of a 5-month-old male with heterotaxy with polysplenia presenting with new onset hypoxemia. Subsequent evaluation identified an extrahepatic portosystemic shunt arising from the confluence of the main portal and superior mesenteric veins draining into the left renal vein. To treat his hypoxemia and prevent future complications of shunting, the patient underwent a successful single-stage endovascular closure.
Topics: Infant; Humans; Male; Child; Hepatopulmonary Syndrome; Portasystemic Shunt, Transjugular Intrahepatic; Portal Vein; Vascular Malformations; Hypoxia
PubMed: 38141079
DOI: 10.1007/s00247-023-05837-w -
ACG Case Reports Journal Dec 2023Congenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and diverts directly into...
Congenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and diverts directly into the systemic circulation through abnormal vessels. We report a case of a 4-year-old girl with heterotaxy syndrome, polysplenia, and situs inversus presenting with persistent hypoxemia who was found to have pulmonary arteriovenous malformations (PAVMs) and hypoxemia secondary to a congenital portosystemic shunt. Management of this patient's PAVMs involved endovascular occlusion of the portosystemic shunt with subsequent resolution of hypoxemia. PAVMs secondary to extrahepatic portosystemic shunt should be explored as a cause of progressive cyanosis in children with heterotaxy, polysplenia, and interrupted inferior vena cava with azygous continuation.
PubMed: 38059116
DOI: 10.14309/crj.0000000000001201 -
Cardiology in the Young Jan 2024A single common pulmonary vein is a rare anomaly, mostly occurring with asplenia. We wanted to report our case because it co-exists with polysplenia and ciliary...
A single common pulmonary vein is a rare anomaly, mostly occurring with asplenia. We wanted to report our case because it co-exists with polysplenia and ciliary dyskinesia.A baby girl about 2 months old with respiratory arrest was admitted to the emergency room of our hospital. She responded to pulmonary resuscitation. We ascertained from her medical history that she had been hospitalised twice because of recurrent lung infections. After the initial check and treatment, we applied imaging modalities to detect underlying problems of recurrent lung infection. Echocardiographic evaluation was suboptimal because of the widespread pulmonary infiltration. Still, we noticed a single common pulmonary vein without obstruction at the junction of the left atrium. Subsequently, a chest CT scan with contrast was performed. It revealed a single common pulmonary vein entering the left atrium with a single orifice, atrial septal defect, two lobes in both lungs, hepatic veins draining directly into the right atrium, and polysplenia. When the flow of a single common pulmonary vein goes directly to the right atrium through the defect, it may cause right heart dilatation as it did in our case. Therefore, patients may need to undergo surgery at an earlier age.
Topics: Infant; Female; Humans; Heterotaxy Syndrome; Pulmonary Veins; Heart Septal Defects, Atrial; Lung; Heart Atria
PubMed: 37946577
DOI: 10.1017/S1047951123003700 -
Asian Journal of Surgery Jan 2024
Topics: Humans; Heterotaxy Syndrome; Kidney; Situs Inversus; Tomography, X-Ray Computed; Male; Adult
PubMed: 37925289
DOI: 10.1016/j.asjsur.2023.10.065 -
Multimedia Manual of Cardiothoracic... Aug 2023Total anomalous pulmonary venous return due to septum primum malposition is a poorly understood condition despite being very common in left atrial isomerism or...
Total anomalous pulmonary venous return due to septum primum malposition is a poorly understood condition despite being very common in left atrial isomerism or polysplenia syndrome. Due to the leftward displacement of the septum primum, either the two right pulmonary veins or all four pulmonary veins can drain abnormally into the right atrium, despite their correct position. In other words, the four pulmonary veins (or the two right pulmonary veins), looking from outside the heart, return at the back of the atrium in the normal position. Nevertheless, from the inside of the heart, two or all four pulmonary veins drain into the right atrium due to the leftward displacement of the septum primum. As an example, we report a 5-month-old patient with severe malposition of the septum primum and consequent total anomalous pulmonary venous drainage into the right atrium. The patient underwent surgical correction with resection of the malpositioned septum primum and reconstruction of a normal interatrial septation with a pericardial patch.
Topics: Humans; Infant; Heterotaxy Syndrome; Heart Septal Defects, Atrial; Scimitar Syndrome; Heart Atria; Pulmonary Veins
PubMed: 37578040
DOI: 10.1510/mmcts.2023.035 -
Cureus Jul 2023This study describes the successful management of gangrenous pneumococcal infection in an infant with polysplenia, a rare congenital malformation characterized by...
This study describes the successful management of gangrenous pneumococcal infection in an infant with polysplenia, a rare congenital malformation characterized by multiple aberrant nodules of splenic tissue. The patient, a three-month-old girl with congenital heart defects and incomplete vaccination, presented with fever, irritability, and oxygen desaturation, followed by erythematous skin changes. The diagnosis revealed sepsis caused by , accompanied by extensive gangrenous skin lesions and signs of disseminated intravascular coagulation. Polysplenia was incidentally discovered during radiological investigation. Aggressive resuscitation measures and prolonged antibiotic administration led to significant improvement, including regression of skin lesions. This case emphasizes the importance of timely immunization and parental awareness for infants with spleen-related congenital malformations. Screening for undiagnosed malformative defects in congenital heart disease patients can aid in early detection and prevention of life-threatening complications. The successful management demonstrates the critical role of pediatric intensive care units in treating severe systemic infections.
PubMed: 37546058
DOI: 10.7759/cureus.41390 -
Asian Journal of Surgery Dec 2023
Topics: Humans; Heterotaxy Syndrome; Renal Veins; Tomography, X-Ray Computed
PubMed: 37541886
DOI: 10.1016/j.asjsur.2023.07.115 -
Medicine, Science, and the Law Oct 2023The spleen is located in the left upper quadrant of the abdominal cavity and has both immunological and haematological functions. A variety of quite different entities... (Review)
Review
The spleen is located in the left upper quadrant of the abdominal cavity and has both immunological and haematological functions. A variety of quite different entities may be associated with sudden death due to splenic involvement. These range from simple traumatic disruption of the parenchyma of a normal spleen with marked intra-abdominal haemorrhage, to conditions such as malaria and infectious mononucleosis where splenomegaly predisposes to rupture. Haematological diseases such as malignancies and haemoglobinopathies may causes sudden death due to haemorrhage or red cell sequestration. Asplenia or polysplenia may be associated with significant congenital heart disease. Hyposplenia, both structural and functional, may also result in rapid demise from sometimes unusual bacterial infections. Vascular abnormalities causing death include entities such as splenic artery aneurysms. Thus, deaths from splenic pathology may be due to localised issues or may be part of more generalised disease. For this reason the autopsy in cases of splenic-associated deaths must be comprehensive and include special testing such as microbiological screening and/or haematologic/genetic evaluation.
Topics: Humans; Spleen; Death, Sudden; Autopsy
PubMed: 37537888
DOI: 10.1177/00258024231191828 -
Frontiers in Cardiovascular Medicine 2023To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification.
BACKGROUND
To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification.
METHODS
The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery.
RESULTS
Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage. Fetal RI reported typical malformations of gastric vesicles on different sides from the heart, juxtaposition of the IVC with AO, anomalous pulmonary venous connection (APVC), asplenia, and bilateral right atrial appendages; intracardiac malformations of AVSD, SA, single ventricle, pulmonary atresia and stenosis, and DORV. The postnatal verification revealed 3 malformations misdiagnoses and 4 malformations missed diagnoses in LI fetuses and 10 misdiagnoses and 8 missed diagnoses in RI fetuses.
CONCLUSIONS
The proposed five-step prenatal ultrasonography has an important diagnostic value for the identification and classification of heterotaxy syndrome. The different sides of gastric vesicles and cardiac apex are important diagnostic clues for heterotaxy syndrome, featuring disconnected or hypoplastic IVC, typical complex cardiac malformation, and atrioventricular block in fetal LI, and shown APVC, juxtaposition of IVC and AO, and intracardiac malformations such as AVSD, DORV, and LVOTO in fetal RI.
PubMed: 37485264
DOI: 10.3389/fcvm.2023.1195191