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The Korean Journal of Internal Medicine Sep 2022
PubMed: 36131365
DOI: 10.3904/kjim.2022.209 -
Molecular Genetics & Genomic Medicine Jun 2020There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions....
BACKGROUND
There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.
METHODS
Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.
RESULTS
We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype.
CONCLUSIONS
Haploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.
Topics: Abnormalities, Multiple; Autistic Disorder; Child; Chromosomes, Human, Pair 20; Haploinsufficiency; Hepatocyte Nuclear Factor 3-beta; Humans; Hypothyroidism; Male; Phenotype; Syndrome
PubMed: 32277595
DOI: 10.1002/mgg3.1086 -
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 Radiology Case Reports Jul 2015The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs... (Review)
Review
The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome.
Topics: Adult; Aorta, Thoracic; Bronchi; Hepatic Artery; Heterotaxy Syndrome; Humans; Iliac Vein; Kidney Calculi; Lung; Male; Radiography; Renal Artery; Renal Veins; Subclavian Artery; Vena Cava, Inferior
PubMed: 26629295
DOI: 10.3941/jrcr.v9i7.2210 -
Journal of Cardiology Cases Jan 2021A 28-year-old woman with polysplenia was referred to our hospital for atrial lead failure. She had undergone an intracardiac repair (ICR) for incomplete atrioventricular...
A 28-year-old woman with polysplenia was referred to our hospital for atrial lead failure. She had undergone an intracardiac repair (ICR) for incomplete atrioventricular septal defect and the implantation of epicardial pacing leads due to complete atrioventricular block at the age of 1 year. When she was 13 years old, an endocardial dual-chamber pacemaker was implanted via the right subclavian vein because of epicardial lead failure. The contrast-enhanced computed tomography scan revealed an inferior vena cava defect with an azygos vein connection to the superior vena cava, occlusion of the right brachiocephalic vein, a defect of the left brachiocephalic vein, and a persistent left superior vena cava ligated at the ICR. Therefore, lead exchange was indicated. During the operation, the temporary pacing lead and the guidewire for emergent deployment of the Bridge Occlusion Balloon® were advanced through the azygos vein and placed at the right ventricle and the hepatic vein, respectively. Both 11-Fr and 13-Fr mechanical rotational dilator sheaths were needed for the lead extraction owing to dense calcification and tight adhesions. The atrial lead was successfully extracted without any complications despite extremely restricted venous access. A new atrial lead was inserted through the space created by the 13-Fr sheath. < Transvenous lead extraction in patients with polysplenia is technically challenging. These patients often undergo pacemaker implantation in childhood, which results in tight adhesions and dense calcifications on the leads, and venous access is extremely restricted. It may be impossible to use a snare and deploy the endovascular balloon to prevent a catastrophic complication from the right femoral vein to the superior vena cava in cases of the inferior vena cava defect.>.
PubMed: 33437340
DOI: 10.1016/j.jccase.2020.09.004 -
American Journal of Medical Genetics.... Jun 2015The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other... (Review)
Review
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases.
Topics: Abnormalities, Multiple; Digestive System Abnormalities; Disorder of Sex Development, 46,XY; Facies; Fatal Outcome; Female; Hand Deformities, Congenital; Heart Defects, Congenital; Hernias, Diaphragmatic, Congenital; Humans; Infant; Infant, Newborn; Intestinal Volvulus; Male; Thymus Gland; Truncus Arteriosus
PubMed: 25898814
DOI: 10.1002/ajmg.a.37037 -
Journal of Arrhythmia Feb 2021As situs ambiguus can cause sinus bradycardia in young patients, the best timing for pacemaker implantation is controversial when the patient is a fertile female.
As situs ambiguus can cause sinus bradycardia in young patients, the best timing for pacemaker implantation is controversial when the patient is a fertile female.
PubMed: 33664913
DOI: 10.1002/joa3.12471 -
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 -
Characterisation of computed tomography angiography findings in paediatric patients with heterotaxy.Pediatric Radiology Aug 2019Heterotaxy refers to the abnormal arrangement of organs across the left-right axis and is typically associated with complex cardiovascular malformations.
BACKGROUND
Heterotaxy refers to the abnormal arrangement of organs across the left-right axis and is typically associated with complex cardiovascular malformations.
OBJECTIVE
To characterise the range of cardiac and extracardiac CT angiography findings in children with heterotaxy using the latest nomenclature consensus and to compare the different types of isomerism.
MATERIALS AND METHODS
We retrospectively analysed the data of 64 consecutive paediatric patients referred to our tertiary paediatric cardiovascular centre who underwent CT angiography for the evaluation of known or suspected heterotaxy within a 52-month period.
RESULTS
Right atrial isomerism was identified in 44 (69%) children, while left atrial isomerism was identified in 18 (28%) children. Atrial appendage anatomy and situs could not be determined in 2 children (3%). Associated heart defects included complete atrioventricular canal (CAVC) in 51 (80%) children, total anomalous pulmonary venous return in 43 (67%) and pulmonary atresia in 23 (36%). The bronchial branching pattern corresponded to atrial appendage morphology in all children except in the two in whom atrial appendage morphology could not be defined. In children with right atrial isomerism, the most common associated abnormalities were CAVC (n=41, 93%) and asplenia (n=34, 77%), while in those with left atrial isomerism, the most common associated abnormalities were polysplenia (n=17, 94%) and an interrupted inferior vena cava with azygos continuation (n=15, 83%).
CONCLUSION
CT angiography provides useful cardiovascular and extracardiac data on heterotaxy, which frequently involves a pattern of side-related findings but has great anatomical variability.
Topics: Adolescent; Child; Child, Preschool; Computed Tomography Angiography; Female; Heterotaxy Syndrome; Humans; Infant; Infant, Newborn; Male; Retrospective Studies
PubMed: 31165901
DOI: 10.1007/s00247-019-04434-0 -
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