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At least 343 records · Page 19Linked to original sources
PubMed1977

Isolated ventricular discordance and complete atrioventricular canal in situs inversus. Report of successful surgical repair.

Isolated ventricular discordance is a very rare malformation, most often lethal in the first months of life. A patient with this lesion survived to age 9 years in spite of the coexistence of a complete form of atrioventricular (A-V) canal. Surgical repair with a Mustard procedure was associated with correction of the endocardial cushion defect. Situs inversus itself caused no problem. Although permanent complete A-V block occurred, the result has been satisfactory so far. This case is thought to be the first successful correction of this malformation.

Child↗
PubMed1999

Abnormal nodal flow precedes situs inversus in iv and inv mice.

We examined the nodal flow of well-characterized mouse mutants, inversus viscerum (iv) and inversion of embryonic turning (inv), and found that their laterality defects are always accompanied by an abnormality in nodal flow. In a randomized laterality mutant, iv, the nodal cilia were immotile and the nodal flow was absent. In a situs inversus mutant, inv, the nodal cilia was motile but could only produce very weak leftward nodal flow. These results consistently support our hypothesis that the nodal flow produces the gradient of putative morphogen and triggers the first L-R determination event.

Animals↗
PubMed1978

Right-sided varicocele associated with situs inversus.

In the overwhelming majority of cases, varicocele appears in the left scrotum, the reason being the anatomical dissimilarity of the two sides. In patients with right-sided or bilateral varicocele, further investigation to rule out a retroperitoneal pathology, especially neoplastic, is indicated. On rare occasions, however, a vascular anomaly as the underlying pathology must be considered. A patient is presented with a complete situs inversus accompanied by a right-sided varicocele. Intraoperative right internal spermatic phlebography revealed that this vein drained into the right renal vein, and valvular incompetence at their confluence was the etiology of the disease. Intraoperative internal spermatic phlebography in patients with right-sided or bilateral varicoceles is recommended as the simplest and safest means to demonstrate the etiology of this disease.

Adult↗
PubMed1982

[Ciliary immotility syndrome without situs inversus in 2 children].

The authors report two cases of immotile cilia syndrome occurring in two children without situs inversus. The two boys, 3 and 7 years old, had bronchiectasis, chronic sinusitis and recurrent upper airway infections. In the siblings, we found Kartagener's syndrome (sister of the first boy, and two sibs of the second). The diagnosis in the 2 cases was performed by study of ciliary motion in bronchial brushing. Ultrastructural examination of biopsies from bronchial mucosa showed specific defects of the axoneme.

Adolescent↗
PubMed1991

[Research of gene(s) involved in situs inversus. Initial results].

Reverse Genetics consists in identifying the gene responsible for a hereditary condition, the biochemical mechanism of which is unknown. We have applied this approach to families recruited according to the following criteria: 1) at least two members of the family must be affected; 2) one of the two subjects must have an abnormality of thoracic and/or abdominal lateralization. This abnormality of situs can form part of a syndrome: asplesia, polysplenia, heterotaxia, dextrocardia, situs inversus, Kartagener' or Ivemark's syndrome; 3) the other affected subject(s) must have some form of congenital heart disease and/or one of the phenotypes above described in 2); 4) in consanguinous marriages, only one child fulfilling the criteria in 2) above described is required. Eight families conforming to the above criteria are presented; lymphocytic transformation was successful in 90% of cases when the blood sample was received within 48 hours. The segregation of the alleles is in favour of a linkage between the tested probe and the syndrome(s) studied. In order to identify the gene responsible, we will have to increase the number of families studied and extend our research to sporadic cases.

Chromosome Inversion↗
PubMedDate not supplied

[Total laryngo-tracheo-esophageal cleft with situs inversus totalis, aplasia of the right diaphragm and hypoplasia of the lung on the right side].

A report is presented on a newborn with congenital malformations of the respiratory and gastrointestinal tract associated with total laryngo-tracheo-oesophageal cleft (type III). The history, the clinical course with respiratory distress after birth, the intra vitam diagnostic procedures with x-ray and laryngoscopy and the autopsy are reported. Additionally a situs inversus totalis, an aplasia of the right diaphragm and a hypoplasia of the lung on the right side were found. To the best of our knowledge this type of association has not been previously reported.

Diaphragm↗
PubMed2004

Situs inversus and acute coronary syndrome.

Dextrocardia is a rare clinical phenomenon with a reported incidence of one in 10 000. Consequently, acute coronary syndromes in such patients are rare. When chest pain occurs in this setting, it is important to be aware of the unique problems that may occur if coronary intervention is contemplated. Previous case reports have shown successful attempts at reperfusing one coronary artery percutaneously. In this case, coronary stents were successfully deployed in two vessels of a man with situs inversus, which has not been reported before. Additionally, the angiographic results that followed from successful intervention did not produce the expected haemodynamic and electrocardiographic changes.

Aged↗
PubMed1993

[Mice SI/Col: a study model in the research of genes involved in situs inversus].

The SI/Col mouse is carrier of the i.v. mutation which expresses itself in an autosomal recessive mode. Fifty per cent of mice born of homozygotic i.v./i.v. parents are normal and 50% present an abnormality of lateralisation of the thoracic and abdominal organs with cardiac malformations involving the venous, atrial, ventricular and arterial segments. Identifying the i.v. mutation may improve our understanding of the genesis of the heterotaxic syndrome in man. With the help of return crossing with wild mice, the authors studied segregation of 10 makers of the murine, chromosome 12 of the situs inversus mice. The genetic map constructed from this data places the i.v. mutation near the telomeric extremity of the murine chromosome 12. Given the inter-species conservation between this region and the telomeric region of the human chromosome 14, it is a candidate region for the search of a homologous human gene in syndromes of heterotaxis.

Animals↗
PubMed2005

Acute myocardial infarction in a patient with dextrocardia and situs inversus.

We report a case of 54-year-old man who presented to hospital with severe prolonged retrosternal chest pain of anginal nature. Electrocardiogram taken by his general practitioner showed minimal ST elevation in chest leads V1 and V2; there was also marked right axis deviation of P wave (negative in lead I and aVL) and of QRS complexes, together with low voltage in precordial leads V4 through V6 suggestive of dextrocardia. Repeat electrocardiogram with chest and limb leads reversed showed widespread, significant ST elevation in lead I, aVL, and V1 through V5 in keeping with extensive acute anterior myocardial infarction (MI). High cardiac enzymes and troponin level provided further confirmation. The extent of MI in such patients may be underestimated unless dextrocardia is timely recognized and leads reversed. We recommend that for patients with dextrocardia and situs inversus presenting with MI, both chest and limb leads be reversed to reveal the true extent of the infracted area.

Dextrocardia↗
PubMed1976

Hepatoencephalopathy associated with situs inversus of abdominal organs and vascular anomalies in a dog.

Throughout its life, a 1-year-old Doberman Pinscher dog had had gastrointestinal disorders and episodes of circling. It was less active than its littermates, and it usually seemed lethargic. When 3 months old, the pup had been anesthetized for ear cropping and it had remained anesthetized for 32 hours. Behavioral problems were apparent when the dog was 11 months old. Two weeks later the behavioral problems accentuated to the point that the dog developed "temper tantrums" and became aggressive toward its owner. On the basis of clinicopathologic and contrast radiographic findings, hepatoencephalopathy due to persistent patent ductus venosus was diagnosed and the dog was euthanatized. Situs inversus abdominalis and multiple vascular anomalies were found at necropsy. Gross and microscopic studies of the viscera were correlated with corrosion casts of the vasculature. In addition to changes in organ position, 3 spleens and malformation of the pancreas were observed. Vascular anomalies were: (1) The portal vein was contiguous with the common hepatic vein by way of a patent ductus venosus; branches of the portal vein were not given off to the liver; (2) the caudal vena cava was continued by the azygos vein, and a cranial segment of the caudal vena cava was absent; (3) the hepatic artery was larger than normal; (4) the left gastric artery arose anomalously from the cranial mesenteric artery; and (5) histologic and radiographic study of the liver did not reveal any interlobular branches of the portal vein; however, hypoplastic branches of the gastroduodenal vein did enter the liver and were demonstrated on a corrosion cast.

Abnormalities, Multiple↗
PubMed2006

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis.

BACKGROUND: Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. CASE REPORT: We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5) and (T6-T7) resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1) a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. CONCLUSION: The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified.

Cervical Vertebrae↗
PubMed2005

Staged correction of double discordance, situs inversus, and absence of true pulmonary arteries.

The case of a young boy with an extremely rare and complex cardiac malformation is described. Situs inversus, dextrocardia, double discordance with pulmonary atresia, absence of true pulmonary arteries, and systemico-pulmonary collateral arteries was the original diagnosis. Three preparatory operations were necessary to reconstruct and unifocalize the pulmonary vascular tree. At the age of 7 years complete correction with intraoperative stenting of the left neopulmonary artery was successfully performed. After more than 3 years from the definitive operation, the patient is alive with no physical limitations.

Child↗