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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 -
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 -
Korean Circulation Journal Oct 2013Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This...
Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This rare condition is commonly associated with severe congenital defects of the heart. We report a case of situs inversus with levocardia in a 19-year-old asymptomatic male patient with completely normal heart on the left chest. Spiral computed tomography of the thorax and abdomen and echocardiographic studies revealed situs inversus of abdominal organs, normal heart (levocardia), mirrored left lungs, a midline liver, a left-sided inferior vena cava connecting to the right atrium, multiple splenic masses in the abdominal right upper quadrant, and aneurysmal dilatation of a splenic artery.
PubMed: 24255657
DOI: 10.4070/kcj.2013.43.10.705 -
Echocardiography (Mount Kisco, N.Y.) Oct 2013Echocardiographic image quality in Fontan survivors may be limited by a variety of factors. We sought to describe echocardiographic quality and factors associated with... (Clinical Trial)
Clinical Trial
Echocardiographic image quality in Fontan survivors may be limited by a variety of factors. We sought to describe echocardiographic quality and factors associated with study quality in subjects participating in the Pediatric Heart Network Fontan Cross-Sectional Study. Echocardiograms were obtained at 7 clinical sites using a standard protocol. Quality grading and analysis were performed by a core laboratory. Univariate and multivariable modeling were performed to assess factors associated with quality and ability to obtain images sufficient for prespecified quantitative analysis. A total of 543 echocardiograms were obtained. The quality of echocardiograms improved over the duration of the study. The great arteries, systemic veins, and pulmonary veins were less likely to be adequately imaged than other cardiac structures. Quantitative analysis of ventricular volume was possible in 76% overall, but only 41% of those with mixed ventricular morphology. Factors independently associated with better quality included younger age, levocardia, acquisition of the echocardiogram at a longer time since the beginning of enrollment, absence of a pulmonary artery stent, and clinical site. Patient and center-specific factors are associated with echocardiographic quality after the Fontan procedure. Increased familiarity and experience with a standard imaging protocol is likely to result in improved quality.
Topics: Adolescent; Child; Cross-Sectional Studies; Echocardiography; Female; Fontan Procedure; Heart Defects, Congenital; Humans; Incidence; Male; Postoperative Complications; Reproducibility of Results; Risk Factors; Sensitivity and Specificity; Treatment Outcome; United States
PubMed: 23614708
DOI: 10.1111/echo.12219 -
Journal of Cardiology Cases Jul 2013Percutaneous coronary intervention in patients with dextrocardia presents several challenges due to abnormal location of the heart, mirror image pattern of aortic arch...
Percutaneous coronary intervention in patients with dextrocardia presents several challenges due to abnormal location of the heart, mirror image pattern of aortic arch and its branches, and abnormal coronary origin and orientation. The challenges involve appropriate choice of vascular access, guiding catheters, engagement technique, acquisition and interpretation of radiological orientation of coronary anatomy, and appropriate radiological angles and views. We report a patient with dextrocardia and situs inversus who presented with acute ST segment elevation myocardial infarction and was successfully treated with trans-radial primary percutaneous coronary intervention using "double inversion technique." We also emphasize that left radial artery approach may be technically preferred to right radial artery approach due to mirror image aortic arch branching pattern. < 1. Percutaneous coronary intervention in patients with dextrocardia presents several challenges due to abnormal location of the heart, mirror image pattern of aortic arch and its branches, and abnormal coronary origin and orientation. 2. These challenges can be overcome by "double inversion technique," which allows the operator to interpret coronary anatomy and perform intervention as in levocardia.>.
PubMed: 30546734
DOI: 10.1016/j.jccase.2013.03.010 -
BMC Pregnancy and Childbirth Mar 2013Fetal unilateral lung agenesis, complicated with cardiac shifting, is a rare anomaly, the diagnosis of which remains a challenge for many sonographers in routine...
BACKGROUND
Fetal unilateral lung agenesis, complicated with cardiac shifting, is a rare anomaly, the diagnosis of which remains a challenge for many sonographers in routine screening programs. The present study describes a systematic approach for the diagnosis of fetal unilateral lung agenesis and cardiac malpositions in routine prenatal screening.
METHODS
A total of 18 cases of fetal unilateral lung agenesis complicated with cardiac malposition were reviewed. A systematic method was proposed to identify the fetal left side and right side according to the fetal head position and posture by acquiring a long axis and transverse view of the fetus. Fetal unilateral lung agenesis was diagnosed by evaluation of the ipsilateral pulmonary artery. The diagnosis was confirmed by postnatal echocardiography, digital radiology, and computed tomography after birth or by autopsy findings.
RESULTS
The left-sided fetal heart with the cardiac apex rotating to the left and posterior were confirmed in all 7 left lung agenesis cases, while the rightward shifting of the fetal heart together with the cardiac axis deviating to the right were confirmed in all 11 cases of right lung agenesis. The disappearance of the ipsilateral pulmonary artery was confirmed in all 18 cases of unilateral lung agenesis. Cardiac anomalies were present in a total of 7 of the 18 cases of lung agenesis with 4 of 7 in cases of left lung agenesis and 3 of 11 in cases of right agenesis.
CONCLUSIONS
The systematic approach introduced in the current report is helpful in the diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. The information provided by this study may be helpful to better understand unilateral lung agenesis anatomically and to facilitate its potential examination.
Topics: Abnormalities, Multiple; Echocardiography, Doppler, Color; Female; Humans; Levocardia; Lung; Lung Diseases; Pregnancy; Pulmonary Artery; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 23530545
DOI: 10.1186/1471-2393-13-79 -
Wideochirurgia I Inne Techniki... Aug 2012The article presents a case of an adrenal adenoma (Conn's syndrome) in a 50-year-old man with situs inversus with levocardia. Laparoscopic adrenalectomy was performed...
The article presents a case of an adrenal adenoma (Conn's syndrome) in a 50-year-old man with situs inversus with levocardia. Laparoscopic adrenalectomy was performed and the patient made a full recovery. It has been concluded that diagnostic assessment by means of imaging techniques providing details of the organ anatomy and the experience of the medical team are the key factors determining the outcome of such surgery.
PubMed: 23256030
DOI: 10.5114/wiitm.2011.25973