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Cardiology Research Dec 2015We present a case of a 19-year-old female presenting with cyanosis since birth. The major anomaly demonstrated was a "triply twisted heart" with a balanced physiology,...
We present a case of a 19-year-old female presenting with cyanosis since birth. The major anomaly demonstrated was a "triply twisted heart" with a balanced physiology, allowing her to survive into adulthood. Non-invasive imaging was done using 2D and real-time 3D (or 4D) echocardiography with multi-slice imaging from 4D volume datasets. Findings were confirmed using cardiac magnetic resonance imaging (MRI). A segmental approach revealed atrial and visceral situs inversus, levocardia, atrioventricular discordance, and ventriculoarterial discordance. Both the aorta and pulmonary artery were malposed and arise from the right ventricle (double outlet right ventricle or DORV). There was also a complete atrioventricular septal defect (CAVSD) associated with a functional single atrium and a functional univentricle (single ventricle). Other findings include a severe pulmonic stenosis (PS), preserved right and left ventricular systolic function, and a normal pulmonary arterial pressure. She also had a persistent left superior vena cava (SVC) that drains into the morphologic right atrium, while the right-sided SVC drains into the morphologic left atrium. A multidisciplinary team deemed that management be palliative. She is on regular follow-up at our clinics for non-invasive monitoring. To our knowledge, this is the first reported case in an adult with this combination of anomalies.
PubMed: 28197259
DOI: 10.14740/cr440w -
Surgical and Radiologic Anatomy : SRA Dec 2015
Topics: Azygos Vein; Female; Heterotaxy Syndrome; Humans; Levocardia; Situs Inversus; Vena Cava, Inferior
PubMed: 25986555
DOI: 10.1007/s00276-015-1492-x -
Journal of Radiology Case Reports Feb 2015When approaching a case with a situs abnormality, using the proper terminology, making a specific diagnosis, and understanding the other often associated abnormalities...
When approaching a case with a situs abnormality, using the proper terminology, making a specific diagnosis, and understanding the other often associated abnormalities that need to be excluded are of great importance. We present a case of situs ambiguous in the presence of intestinal nonrotation and an obstructing duodenal web. Our patient initially presented at two days old with bilious emesis and failure to pass meconium after birth. An abdominal radiograph demonstrated an unusual bowel gas pattern, a reversed "double bubble" sign. A subsequent thorough imaging survey was crucial to further characterize our patient's unique anatomy. Overall, our case demonstrates many of the unusual plain radiographic and sonographic findings associated with our patient's situs abnormality and allows for review of situs abnormalities and their significance.
Topics: Abnormalities, Multiple; Diagnosis, Differential; Duodenum; Female; Humans; Infant, Newborn; Intestines; Levocardia; Radiography; Stomach; Ultrasonography
PubMed: 25926924
DOI: 10.3941/jrcr.v9i2.2358 -
Singapore Medical Journal Apr 2015Levocardia (left-sided cardiac apex) with abdominal situs inversus is extremely rare. This is also known as isolated levocardia and is almost always associated with...
Levocardia (left-sided cardiac apex) with abdominal situs inversus is extremely rare. This is also known as isolated levocardia and is almost always associated with severe forms of congenital heart defects with poor prognosis. We report isolated levocardia in a 13-year-old symptomatic male patient. The purpose of this paper is to outline the imaging features of isolated levocardia and to highlight the role of cardiovascular magnetic resonance imaging (CMR) in the diagnosis and management of such cases. Other forms of cardiac malposition, including dextrocardia, mesocardia and criss-cross heart, with chest radiograph and CMR correlation, are also discussed.
Topics: Abnormalities, Multiple; Adolescent; Diagnostic Imaging; Humans; Levocardia; Magnetic Resonance Imaging, Cine; Male; Radiography, Thoracic; Situs Inversus; Tomography, X-Ray Computed
PubMed: 25917470
DOI: 10.11622/smedj.2015059 -
Giornale Italiano Di Cardiologia (2006) Mar 2015A newborn was suspected of having situs inversus with levocardia based on chest X-ray. Echocardiography ruled out this hypothesis but revealed a giant cardiac mass that...
A newborn was suspected of having situs inversus with levocardia based on chest X-ray. Echocardiography ruled out this hypothesis but revealed a giant cardiac mass that was confirmed by magnetic resonance imaging. Coronary angiography showed that the right coronary artery ran on the surface of the mass, and only partial debulking surgery was performed to relieve right heart compression. Histological examination classified the mass as cardiac fibroma. Complex diagnostic work-up allowed correct anatomic definition of the mass as well as its relationship with adjacent structures, and helped guide surgical planning.
Topics: Coronary Angiography; Echocardiography; Fibroma; Heart Neoplasms; Humans; Infant; Magnetic Resonance Imaging; Male; Multimodal Imaging
PubMed: 25837462
DOI: 10.1714/1820.19830 -
Surgical and Radiologic Anatomy : SRA Apr 2016Situs inversus incompletus is a rare congenital condition in which the major abdominal organs are reversed or mirrored from their normal positions. It is often...
Situs inversus incompletus is a rare congenital condition in which the major abdominal organs are reversed or mirrored from their normal positions. It is often associated with multiple congenital anomalies. We present the case of a 38-year-old woman with dyspnea and a clinical history of chronic kidney disease and kidney transplantation. Echocardiography showed a right atrial mass, and analysis of multidetector computed tomography angiography revealed the interruption of the inferior vena cava with an increase of the azygos vein and azygos continuation. These congenital malformations are often associated with deep vein thrombosis and/or pulmonary thromboembolism and explained the occurrence of dyspnea. Cardiac magnetic resonance with contrast medium confirmed the presence of the right atrial mass, the characteristics of which were attributed to interatrial thrombus, which was further confirmed by the success of thrombolytic therapy and the remission of symptoms. In conclusion, we described a case of situs inversus with levocardia in association with infrahepatic interruption of the inferior vena cava, and azygos continuation with cardiac thrombus and chronic renal failure.
Topics: Adult; Azygos Vein; Female; Humans; Levocardia; Thrombosis; Vena Cava, Inferior
PubMed: 25737490
DOI: 10.1007/s00276-015-1454-3 -
Taiwanese Journal of Obstetrics &... Feb 2015Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound... (Review)
Review
Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia.
OBJECTIVE
Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH.
CASE REPORT
A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872-48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction.
CONCLUSION
Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.
Topics: Abnormalities, Multiple; Adult; Amniocentesis; Chromosomes, Human, Pair 21; Comparative Genomic Hybridization; Down Syndrome; Female; Genetic Counseling; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Karyotype; Magnetic Resonance Imaging; Male; Pregnancy; Prenatal Diagnosis
PubMed: 25675923
DOI: 10.1016/j.tjog.2014.12.001 -
Annals of Surgical Treatment and... Dec 2014We report a case of common bile duct (CBD) cancer, successfully managed with pancreaticoduodenectomy, in a patient with isolated levocardia, malrotation, and situs...
We report a case of common bile duct (CBD) cancer, successfully managed with pancreaticoduodenectomy, in a patient with isolated levocardia, malrotation, and situs ambiguous (without splenic anomalies). A 59-year-old male patient was referred to Chung-Ang University Hospital with epigastric pain and jaundice. CT and MRI revealed distal CBD cancer without significant lymphadenopathy. Multiple abdominal anatomic anomalies were identified preoperatively, whereas no anatomic anomalies were detected within the chest. The patient had a right-sided stomach and spleen, liver at the midline, several vascular variations around the celiac axis, and intestinal malrotation, but the inferior vena cava and portal vein were normal. A pancreaticoduodenectomy was performed to treat the cancer. The postoperative course was favorable, and the patient was started on combined chemotherapy and radiotherapy 15 days after the surgery. In this case study, we report that pylorus preserving pancreaticoduodenectomy was successful for distal CBD cancer in a patient with rare situs anomalies.
PubMed: 25485244
DOI: 10.4174/astr.2014.87.6.340 -
European Journal of Human Genetics :... Sep 2015The laterality in the embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid, which is maintained by the rotary...
The laterality in the embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid, which is maintained by the rotary movement of monocilia on the nodal cells. Defects manifest by abnormal formation and arrangement of visceral organs. The genetic etiology of defects not associated with primary ciliary dyskinesia is largely unknown. In this study, we investigated the cause of situs anomalies, including heterotaxy syndrome and situs inversus totalis, in a consanguineous family. Whole-exome analysis revealed a homozygous deleterious deletion in the WDR16 gene, which segregated with the phenotype. WDR16 protein was previously proposed to play a role in cilia-related signal transduction processes; the rat Wdr16 protein was shown to be confined to cilia-possessing tissues and severe hydrocephalus was observed in the wdr16 gene knockdown zebrafish. The phenotype associated with the homozygous deletion in our patients suggests a role for WDR16 in human laterality patterning. Exome analysis is a valuable tool for molecular investigation even in cases of large deletions.
Topics: Base Sequence; Carrier Proteins; Cilia; Consanguinity; Exome; Female; Heterotaxy Syndrome; Homozygote; Humans; Hydrocephalus; Infant; Levocardia; Molecular Sequence Data; Phenotype; Sequence Analysis, DNA; Sequence Deletion
PubMed: 25469542
DOI: 10.1038/ejhg.2014.265 -
Turk Kardiyoloji Dernegi Arsivi : Turk... Sep 2014Anatomically corrected malposition of the great arteries (ACMGA) is defined as parallel arising of aorta and main pulmonary artery (PA) roots although ventriculoarterial...
Anatomically corrected malposition of the great arteries (ACMGA) is defined as parallel arising of aorta and main pulmonary artery (PA) roots although ventriculoarterial connection is normal. Abnormally related aorta arises from the left ventricle, while abnormally related PA arises from the right ventricle. It can be diagnosed with via echocardiography. In some cases, additional imaging modalities such as computerized tomographic angiography and magnetic resonance are required. In this article, we presented two cases of ACMGA, 5-month-old boy and 1-month-old girl. We wanted to point out the importance of differential diagnosis of other great artery anomalies from this rare pathology.
Topics: Diagnosis, Differential; Echocardiography; Female; Humans; Infant; Infant, Newborn; Levocardia; Male; Radiography; Tomography; Transposition of Great Vessels
PubMed: 25362949
DOI: 10.5543/tkda.2014.79259