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Children (Basel, Switzerland) Dec 2022A significant number of patients with dextrocardia and other cardiac malpositions have other congenital heart defects (CHDs). The incidence of CHDs in subjects with... (Review)
Review
A significant number of patients with dextrocardia and other cardiac malpositions have other congenital heart defects (CHDs). The incidence of CHDs in subjects with cardiac malpositions is significantly greater than that in normal children, and the prevalence varies with the associated visceroatrial situs. The most useful approach to diagnosis is segmental analysis. Firstly, dextroposition should be excluded. In segmental analysis, the visceroatrial situs, ventricular location, status of atrioventricular connections, the great artery relationship, and conotruncal relationship are determined with the use of electrocardiogram (ECG), chest X-ray, and echocardiographic studies, and, when necessary, other imaging studies, including angiography. Following identification of the afore-mentioned segments, the associated defects in the atrial and ventricular septae, valvar and vascular stenosis or atresia may be determined by a review of the historical information, physical examination, and analysis of chest roentgenogram, ECG, and echocardiographic studies. Along the way, a pictorial rendition of the terminology and diagnosis of cardiac malpositions is undertaken.
PubMed: 36553425
DOI: 10.3390/children9121977 -
Diagnostics (Basel, Switzerland) Nov 2022Splenic torsion is an unusual condition that results in congenital abnormality, especially in the visceral abnormal arrangement. We report the case of an 8.5-year-old...
Splenic torsion is an unusual condition that results in congenital abnormality, especially in the visceral abnormal arrangement. We report the case of an 8.5-year-old boy with features in the right upper quadrant. Radiological investigations revealed heterotaxy syndrome with polysplenia and a hypodense tumor in the right upper quadrant adjacent to several spleens. We initially treated it as an intra-abdominal tumor. Laparoscopy was performed to check the tumor condition and revealed a congestive tumor located in the abdomen of the right upper quadrant below the central liver, which was suspected to be a torsion spleen without attaching ligaments. Laparoscopic splenectomy was successfully carried out without complications. The pathological report shows splenic tissue with hemorrhagic infarction. Physicians should be vigilant of the differential diagnosis of the acute abdomen in adolescents.
PubMed: 36552927
DOI: 10.3390/diagnostics12122920 -
Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report.International Medical Case Reports... 2022The infantile intestinal obstruction associated with situs inversus totalis and polysplenia is extremely rare, with only a few cases reported in the literature....
The infantile intestinal obstruction associated with situs inversus totalis and polysplenia is extremely rare, with only a few cases reported in the literature. Furthermore, the management of this association is complicated. We report a case of a 2-month-old boy with intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine associated with situs inversus totalis, polysplenia, and pulmonary hypertension. To the best of our knowledge, this is the first case of situs inversus totalis with polysplenia, pulmonary hypertension, and intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine.
PubMed: 36330372
DOI: 10.2147/IMCRJ.S385808 -
Multimedia Manual of Cardiothoracic... Oct 2022The patient is a 5-year-old girl who underwent a previous Kawashima procedure with a left-sided bidirectional cavopulmonary anastomosis as a stage I palliation for her...
The patient is a 5-year-old girl who underwent a previous Kawashima procedure with a left-sided bidirectional cavopulmonary anastomosis as a stage I palliation for her functional single ventricle. Her cardiac defect consisted of an unbalanced, right-dominant complete atrioventricular septal defect and a double outlet right ventricle. She also had heterotaxy syndrome with left isomerism, polysplenia, and an interrupted inferior vena cava with azygous continuation to a right-sided superior vena cava. Her native main pulmonary artery was left in continuity with her branch pulmonary arteries. She developed sinus node dysfunction, dilated ascending aorta, and progressive cyanosis. We proceeded with the completion Fontan using a bifurcated graft from both hepatic veins to the pulmonary arterial confluence, replacement of her dilated ascending aorta, disconnection of her native main pulmonary artery with excision of the pulmonary valve cusps, and placement of a dual-chamber epicardial pacemaker.
Topics: Child, Preschool; Female; Fontan Procedure; Heart Defects, Congenital; Heart Septal Defects; Humans; Pulmonary Artery; Vascular Malformations; Vena Cava, Superior
PubMed: 36218125
DOI: 10.1510/mmcts-2022-046 -
Journal of the College of Physicians... Aug 2022Interrupted inferior vena cava (IVC) is a rare disease, occurring either in isolation or in association with asplenia or polysplenia syndromes. Infrahepatic part of the...
Interrupted inferior vena cava (IVC) is a rare disease, occurring either in isolation or in association with asplenia or polysplenia syndromes. Infrahepatic part of the IVC is absent representing the failure of fusion of the vitelline and subcardinal embryological portions of the IVC. It is replaced by an enlarged azygos or hemiazygos vein continuing into the thorax, either into the superior vena cava or into the brachiocephalic veins. We present two cases of interrupted IVC, one occurring in isolation with hemiazygos continuation and discovered incidentally, and the second one is a child with azygos continuation, associated with polysplenia syndrome. Key Words: Inferior vena cava, Polysplenia, Azygous vein, Hemiazygos vein.
Topics: Azygos Vein; Child; Heart Defects, Congenital; Humans; Splenic Diseases; Vascular Malformations; Vena Cava, Inferior; Vena Cava, Superior
PubMed: 36210661
DOI: 10.29271/jcpsp.2022.Supp2.S101 -
Global Pediatric Health 2022Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a...
Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a number of malformations that appear between the fourth and sixth week of embryonic development. Although it has been suggested that genetic, teratogenic, and embryogenic factors may be at fault, the exact etiology remains unclear. Clinically, it is generally asymptomatic or mildly symptomatic. The authors report the case of an 11-months-old infant from a poorly monitored pregnancy. He was admitted to the emergency room for respiratory discomfort in a context of apyrexia. A thoraco-abdominal CT scanner revealed a polysplenia syndrome.
PubMed: 36189184
DOI: 10.1177/2333794X221127640 -
Clinical Medicine Insights. Cardiology 2022Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart...
Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass. A chest and abdominal computed tomography (CT) identified heterotaxy syndrome with left isomerism and fused adrenal glands. This case highlights the feature of fused adrenal glands in a patient with polysplenia.
PubMed: 36187466
DOI: 10.1177/11795468221116851 -
The Korean Journal of Internal Medicine Sep 2022
PubMed: 36131365
DOI: 10.3904/kjim.2022.209 -
Journal of Cardiology Dec 2022The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with...
BACKGROUND
The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with congenital heart disease (ACHD patients). This network maintains the first Japanese ACHD registry.
METHODS AND RESULTS
From 2011 to 2019, the JNCVD-ACHD registered 54 institutions providing specialized care for ACHD patients in 32 of the 47 prefectures in Japan. The registry collected data on the disease profile for 24,048 patients from 50 institutions and the patient characteristics for 9743 patients from 24 institutions. The most common ACHDs were atrial septal defect (20.5 %), ventricular septal defect (20.5 %), tetralogy of Fallot (12.9 %), and univentricular heart (UVH)/single ventricle (SV; 6.6 %). ACHD patients without biventricular repair accounted for 37.0 % of the population. Also examined were the serious anatomical and/or pathophysiological disorders such as pulmonary arterial hypertension (3.0 %) including Eisenmenger syndrome (1.2 %), systemic right ventricle under biventricular circulation (sRV-2VC; 2.8 %), and Fontan physiology (6.0 %). The sRV-2VC cases comprised congenitally corrected transposition of the great arteries without anatomical repair (61.9 %) and transposition of the great arteries with atrial switching surgery (38.1 %). The primary etiology (86.4 %) for Fontan physiology was UVH/SV. In addition, developmental/chromosomal/genetic disorders were heterotaxy syndromes (asplenia, 0.9 %; polysplenia, 0.7 %), trisomy 21 (4.0 %), 22q11.2 deletion (0.9 %), Turner syndrome (0.2 %), and Marfan syndrome (1.1 %).
CONCLUSIONS
Although the specific management of ACHD has systematically progressed in Japan, this approach is still evolving. For ideal ACHD care, the prospective goals for the JNCVD-ACHD are to create local networks and provide a resource for multicenter clinical trials to support evidence-based practice.
Topics: Adult; Humans; Heart Defects, Congenital; Japan; Transposition of Great Vessels; Prospective Studies; Outpatients; Registries
PubMed: 35995687
DOI: 10.1016/j.jjcc.2022.07.019 -
Frontiers in Pediatrics 2022The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and...
BACKGROUND
The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and Caucasians, with incidence ranging from 1 in 5,000 to 1 in 9,000 live births in East Asia and 1 in 15,000 to 19,000 live births in Europe and North America.
OBJECTIVE
We report the first nationwide BA study outside North America, Europe, and East Asia to describe the epidemiology and outcomes of BA in Saudi Arabia.
METHODS
A national database of BA cases diagnosed between 2000 and 2018 was analyzed. We assessed clearance of jaundice (bilirubin <20 μmol/L) in all cases that underwent Kasai portoenterostomy (KPE). We then estimated survival using the Kaplan-Meier method with endpoints of liver transplantation (LT), death, or survival with native liver (SNL).
RESULTS
BA was diagnosed in 204 infants (106 females; 10% pre-term). The incidence of BA was 1 in 44,365, or 2.254 in 100,000 live births (range, 0.5-4 in 100,000). Polysplenia was diagnosed in 22 cases (11%). The median age at referral was 65 days. A total of 146 children (71.5%) underwent KPE at a median age of 70 days. Clearance of jaundice was achieved in 66 of the 146 (45%) infants. The 10-year SNL after KPE was 25.5%, and the overall 10-year estimated survival was 72.5%. The Kaplan-Meier survival curves for patients undergoing KPE at the age of <60, 61-90, and >90 days showed a SNL rate at 51.6, 33, and 12.5%, respectively, at 5 years ( < 0.001). The 2-, 5-, and 10-year post-LT survival rates were 92.5, 90.6, and 90%, respectively. Undergoing an initial KPE did not impact negatively on the overall LT survival rate when compared to BA cases that underwent primary LT ( = 0.88).
CONCLUSION
The incidence rate of BA in Saudi Arabia is lower than the incidence reported elsewhere. Late referral of BA cases remains a problem in Saudi Arabia; as a result, the SNL rate was lower than reported by other national registries. Hence, national policies devoted to timely referral and earlier age at KPE are needed.
PubMed: 35923790
DOI: 10.3389/fped.2022.921948