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BMJ Case Reports Dec 2015A 69-year-old man with situs inversus, levocardia and inverted great arteries developed severe dynamic left ventricular outflow tract (LVOT) obstruction with systolic...
A 69-year-old man with situs inversus, levocardia and inverted great arteries developed severe dynamic left ventricular outflow tract (LVOT) obstruction with systolic anterior motion of the anterior mitral leaflet. There was no asymmetric septal hypertrophy. A possible mechanism of the LOVT obstruction in the present case may have been related to an abnormally long and bent outflow tract resulting from overriding of the right ventricle over the LVOT due to a congenital malposition of the heart. Mitral valve replacement with septal myectomy was performed in order to eliminate systolic anterior motion. The postoperative course has been excellent.
Topics: Aged; Heart Ventricles; Humans; Levocardia; Male; Tomography, X-Ray Computed; Ventricular Outflow Obstruction
PubMed: 26628311
DOI: 10.1136/bcr-2015-213030 -
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 -
Journal of Arrhythmia Dec 2018Implantation of a cardiac resynchronization therapy (CRT) device in patients with congenital heart disease may be challenging because of the particular underlying...
Implantation of a cardiac resynchronization therapy (CRT) device in patients with congenital heart disease may be challenging because of the particular underlying anatomy. We present the case of a right-sided transvenous implantation of a dual-chamber CRT-D device in a patient with situs inversus totalis and mirror image dextrocardia. To facilitate our anatomic orientation and to overcome unusual hand-eye coordination problems, we decided to flip the fluoroscopic image projection by 180° (right-left), creating the optical impression of a "normalized" heart position (levocardia). This simple approach allowed us to successfully implant the device using a conventional left-sided CRT delivery system.
PubMed: 30555613
DOI: 10.1002/joa3.12120 -
The American Journal of Case Reports Mar 2024BACKGROUND Bilious vomiting in a child potentially portends the dire emergency of intestinal malrotation with volvulus, necessitating prompt surgical management, with...
BACKGROUND Bilious vomiting in a child potentially portends the dire emergency of intestinal malrotation with volvulus, necessitating prompt surgical management, with differentials including small-bowel atresia, duodenal stenosis, annular pancreas, and intussusception. Although the upper-gastrointestinal series (UGI) is the diagnostic investigation of choice, up to 15% of the studies are inconclusive, thereby posing a diagnostic challenge. CASE REPORT We report a case series of 3 children referred for bilious vomiting, whose initial UGI was inconclusive and who were eventually confirmed to have intestinal malrotation at surgery. The first child was a female born at 37 weeks with antenatally diagnosed situs inversus and levocardia, who developed bilious vomiting on day 1 of life. The duodenojejunal flexure (DJ) could not be visualized on the UGI because of faint opacification on first pass of the contrast and subsequent overlap with the proximal jejunal loops. The second child was a male born at 36 weeks, presenting at age 4 months with bilious vomiting of 2 days duration. The third child was a female born at 29 weeks, presenting with bilious aspirates on day 3 of life. UGI for all 3 showed persistent hold-up of contrast at the proximal duodenum with no opacification of the distal duodenum or small bowel.Adjunctive techniques during the UGI and ultrasound examination helped achieve a preoperative diagnosis of malrotation in these children. CONCLUSIONS Application of diagnostic adjuncts to an inconclusive initial UGI may help elucidate a preoperative diagnosis of intestinal malrotation in infantile bilious vomiting.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Duodenum; Intestinal Atresia; Intestinal Volvulus; Nausea; Vomiting
PubMed: 38483097
DOI: 10.12659/AJCR.943056