Dextrocardia and situs inversus totalis in a Turkish subject: a case report / Dextrocardia y situs inversus totalis en un sujeto turco: reporte de un caso

Dextrocardia with situs inversus is an uncommon anomaly affecting about 1 to 2 per 10,000 in the general population. This report describes an adult male patient with dextrocardia and in a Turkish subject. The photographic illustrations revealed transposition of some of the visceral organs such as the spleen was located right and the liver and gall bladder on the left. The heart was flattened and flipped to the right. Many people with situs inversus totalis are unaware of their unusual anatomy until they seek medical attention for an unrelated condition. So, early detection may lead to a successful surgical management and consequently offer a safer chance of survival. This report showed that dextrocardia and situs inversus can be seen amongst Turkish subjects.

La dextrocardia con situs inversus es una anomalía poco frecuente que afecta aproximadamente de 1 a 2 personas por 10.000 en la población general. Este informe describe un paciente masculino adulto con dextrocardia. Las figuras revelaron que la transposición de algunos de los órganos viscerales, como el bazo, se ubicada a la derecha y el hígado y la vesícula biliar a la izquierda. El corazón fue aplastado y girado hacia la derecha. Muchas personas con situs inversus totalis desconocen su anatomía inusual hasta que buscan atención médica por una afección no relacionada. Por lo tanto, la detección temprana puede llevar a un manejo quirúrgico exitoso y, en consecuencia, ofrecer una posibilidad más segura de supervivencia. Este informe mostró que la dextrocardia y el situs inversus se pueden encontrar entre los sujetos turcos.

An Unusual Combination of Mirror-Image Dextrocardia with Familial Medulloblastoma: Is There a Histogenetic Relationship?

BACKGROUND: The occurrence of medulloblastoma in the absence of hereditary syndromes is rare. Dextrocardia with situs inversus is also called mirror-image dextrocardia. A combination of mirror-image dextrocardia with medulloblastoma has not been reported previously. To the best of our knowledge, this is the first report of this rare combination in a family with medulloblastoma. METHODS: The clinical manifestation, radiographic characteristics, treatment, and outcomes of 3 medulloblastoma cases in 2 cousins and their maternal uncle was described. Tumor samples of the 2 cousins were first examined for histologic subtypes. Total RNA of their tumors was extracted from formalin-fixed and paraffin-embedded samples. Then, expression of 22 subgroup-specific genes and 3 housekeeping genes was analyzed by the NanoString nCounter Analysis System. The posttest data were normalized by NanoStringNorm package for molecular subgroup prediction. RESULTS: The proband remains tumor free and alive up to the latest follow-up. His cousin, who had combined mirror-image dextrocardia with situs inversus, died of anoxia after surgery and his uncle died of tumor 2.5 years after surgery. Medulloblastoma of the 2 cousins was classified as classic and molecular group 4 subtype. CONCLUSIONS: The same classic and molecular group 4 subtype of the 2 cousins may suggest a similar genetic predisposition. Involvement of the Otx2 gene dysfunction in both group 4 subtype medulloblastoma and mirror-image dextrocardia with situs inversus points to a possible mechanism that dysfunction of a shared signaling pathway such as Otx2 might be the underlying cause of these 2 conditions in this family.

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.

Establishing correct left-right asymmetry during embryonic development is crucial for proper asymmetric positioning of the organs. Congenital heart defects, such as dextrocardia, transposition of the arteries, and inflow or outflow tract malformations, comprise some of the most common birth defects and may be attributed to incorrect establishment of body laterality. Here, we identify new patients with dextrocardia who have mutations in CFAP53, a coiled-coil domain containing protein. To elucidate the mechanism by which CFAP53 regulates embryonic asymmetry, we used genome editing to generate cfap53 zebrafish mutants. Zebrafish cfap53 mutants have specific defects in organ laterality and randomization of asymmetric gene expression. We show that cfap53 is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ, providing a mechanism by which patients with CFAP53 mutations develop dextrocardia and heterotaxy, and confirming previous evidence that left-right asymmetry in humans is regulated through cilia-driven fluid flow in a laterality organ.

CLINICAL CASE OF THE MONTH: A Review of Situs Inversus and Dextrocardia.

A 21-year-old woman at 25 weeks gestation presented to the emergency department with chief complaints of decreased appetite for one week, fever, runny and stuffy nose, and generalized muscle pains.

When hepatoma rupture happens in situs inversus totalis: side matters.

The authors reported a 73-year-old alcoholic man with previously-unrecognized situs inversus totalis suffering from left upper quadrant pain. Acute myocardial infarction was diagnosed and coronary angioplasty was performed immediately. However, the massive bleeding from the previously-unfound hepatomas caused hypovolemic shock and fatal outcome. Situs inversus totalis is a rare congenital anomaly with a complete mirror image of the thoracic and abdominal organs. Although being considered a benign entity, it would disturb diagnosis-making of the visceral diseases owing to the altered anatomy. To our knowledge, the coexistence of the coronary artery disease and ruptured hepatomas in situs inversus totalis, as in our patient, is never described. Recognition of any situs anomalies in time is the key to avoid misdiagnosis, inappropriate managements, and unwanted consequences.

Dextrocardia with situs solitus and inversion apex-basis axis in lesser anteater (Tamandua tetradactyla): case report / Dextrocardia com situs solitus e inversão de eixo ápice-base em tamanduá-mirim (Tamandua tetradactyla): relato de caso

Dextrocardia is a rare cardiac anomaly where the heart is situated on the right antimeres of the thorax. This study had the objective of describing a case of dextrocardia with situs solitus and apex-basis axis inversion in a lesser anteater (Tamandua tetradactyla) between five evaluated animals, all from the area of Mine Bauxite - Paragominas - Para. The arterial system was filled with contrasted latex and the animals were fixed with 10% formaldehyde and a posterior dissection was done. The heart of an animal was found in right antimere with inversion of the base-apex axis. The right atrium was more developed then the left and the pulmonary veins arrived directly in the left ventricle. The main vases of the base were identified with some topographic alterations resulting in: aorta dorsal to the cava caudal vein, pulmonary artery dorsal and cranial to aorta, pulmonary veins ventral to the pulmonary artery, cava caudal vein in ventral plain and cava cranial vein in dorsal plan in relation to the other vessels. Internally there were four cardiac chambers, with absence of septal communication.

Dextrocardia é uma anomalia cardíaca rara no qual o coração está situado no antímero direito do tórax. Este estudo objetivou descrever um caso de dextrocardia com situs solitus e inversão do eixo ápice-base em um tamanduá-mirim (Tamandua tetradactyla), entre cinco animais avaliados, sendo todos da área da mina de bauxita - Paragominas - Pará. O sistema arterial foi preenchido com látex contrastado e os animais foram fixados com formol a 10% e seguido de dissecção posterior. O coração de um dos animais foi encontrado no antímero direito com inversão do eixo ápice-base. O átrio direito era mais desenvolvido do que o esquerdo e as veias pulmonares chegaram direto no ventrículo esquerdo. Foram identificados os principais vasos da base com alterações topográficas, resultando em: aorta dorsal à veia cava caudal, artéria pulmonar dorsal e cranial da aorta, veias pulmonares ventrais a artéria pulmonar, veia cava caudal em plano ventral e veia cava cranial em plano dorsal em relação a outros vasos. Internamente foram localizadas quatro câmaras cardíacas, com ausência de comunicação septal.

Situs inversus with dextrocardia in a mummy case.

A mummy of a young woman, who died due to tuberculous peritonitis and salpingitis, is conserved in the Pathological Anatomy Museum of the University of Padua. It was found at autopsy to have situs inversus of viscera with dextrocardia, apparently in the absence of other congenital defects. A 64-section scanner computed tomography (CT) on the specimen was carried out to investigate the internal condition of organs. The CT revealed the presence in the heart of a muscular ventricular septal defect and of calcific deposits on visceral pericardium and aortic wall, in keeping with sequelae of previous tuberculous pericarditis.

Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning.

In humans, loss-of-function mutations in ZIC3 cause isolated cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetry of organs. Zic3 null mice recapitulate the human heterotaxy phenotype but also have early gastrulation defects, axial patterning defects and neural tube defects complicating an assessment of the role of Zic3 in cardiac development. Zic3 is expressed ubiquitously during critical stages of left-right patterning but its later expression in the developing heart remains controversial and the molecular mechanism(s) by which it causes heterotaxy are unknown. To define the temporal and spatial requirements, for Zic3 in left-right patterning, we generated conditional Zic3 mice and Zic3-LacZ-BAC reporter mice. The latter provide compelling evidence that Zic3 is expressed in the mouse node and absent in the heart. Conditional deletion using T-Cre identifies a requirement for Zic3 in the primitive streak and migrating mesoderm for proper left-right patterning and cardiac development. In contrast, Zic3 is not required in heart progenitors or the cardiac compartment. In addition, the data demonstrate abnormal node morphogenesis in Zic3 null mice and identify similar node dysplasia when Zic3 was specifically deleted from the migrating mesoderm and primitive streak. These results define the temporal and spatial requirements for Zic3 in node morphogenesis, left-right patterning and cardiac development and suggest the possibility that a requirement for Zic3 in node ultrastructure underlies its role in heterotaxy and laterality disorders.

Visceral heterotaxy in the developing world.

BACKGROUND: The challenge of visceral heterotaxy (VH) in the developing world has not been analysed in detail. METHOD: Retrospective chart review of 69 consecutive patients over ten years assessed the clinical profile and surgical outcome of VH. Median age: 3 years; median weight: 15kg. Diagnosis was made by echocardiography supplemented with blood smear (Howell Jolly bodies), Multi-Detector Computed Tomography (MDCT) angiogram and/or surgical inspection. RESULTS: In right isomerism (RI) group (n=32), 12 patients did not undergo surgery, five had Blalock Taussig shunt, 14 had bidirectional Glenn and one had Fontan completion, with surgical mortality of 5%. In left isomerism (LI) group (n=31), 11 patients underwent two ventricle repair (35%) and 15 (48%) had single ventricle repair, with surgical mortality of 3.8%; five did not have surgery. On follow up (median period 1.5 years), 33% of un-operated patients and 25% of operated patients died, mortality being higher for RI patients. Late mortality was due to sepsis, heart failure or arrhythmia. CONCLUSION: VH can be diagnosed by imaging based criteria. VH tends to present late in the developing world with a significant percentage inoperable. LI had better surgical outcome and higher long term survival.

Off-pump coronary artery bypass grafting in an octogenarian with situs inversus and dextrocardia: report of a case.

Dextrocardia associated with situs inversus totalis is a rare condition. A small number of patients with the condition have been reported after undergoing myocardial revascularization. We experienced a case of this rare disorder in an 83-year-old man. He was successfully treated by off-pump coronary artery bypass grafting with bilateral internal thoracic arteries and a saphenous vein. Except for the mirror-image anatomy, the surgical technique was similar to that used for a patient with situs solitus.

Right pulmonary agenesis in an elderly woman complicated by transient ischemic attack.

There are few case reports regarding patients with right lung agenesis living to old age because of both severe mediastinal and cardiac displacements. We report a 61-year-old woman with right pulmonary agenesis complicated by a transient ischemic attack that was evaluated by a three-dimensional reconstruction of helical computed tomography and an echocardiography. This patient was able to survive until old age because she had no critical anomalies in other organs including the heart. A mitral valve prolapse was detected by a two-dimensional echocardiography and we treated her with anti-platelet aggregation therapy for the prevention of recurrent stroke.

Right heterotaxy with Hirschsprung's disease - a new association.

A baby girl with prenatal diagnosis of complex cardiac anomalies and diaphragmatic hernia was born at 36 weeks of gestation. At 4 hr of life, the baby developed respiratory distress and was intubated. She was found to have right hetetrotaxy with total anomalous pulmonary venous drainage into the portal vein, five hepatic veins draining the liver and intrathoracic herniation of the stomach. The child also developed abdominal distension on the second day of life with passage of scanty meconium. The diagnosis of Hirschsprung's disease (HD) was confirmed by histology. HD in association with right heterotaxy has not been reported earlier. The association of heterotaxy with HD in our patient raises a possible genetic link between the two anomalies that needs further research.

Rare association of Klippel Feil syndrome with cleft palate and congenital cardiac deformities: a case report.

Klippel Feil Syndrome comprises of three characteristic deformities of short neck, a low dorsal hair line and restricted neck mobility. This is a case report of Klippel Feil Syndrome and its rare association with cleft of hard and soft palate, coarctation of aorta, dextrocardia and situs inversus. An interdisciplinary approach towards the management included cardiac surgery, cleft repair and complete oral rehabilitation of the patient. Presently the patient is undergoing speech therapy and is under regular follow up.

Dextrocardia: practical clinical points and comments on terminology.

Dextrocardia is defined by the authors as a right-sided heart with a base-apex axis directed rightward, resulting from a variation in cardiac development, and not used as a general term indicating any heart in the right chest. Dextrocardia occurs in approximately 0.01% of live births and can be discovered in various clinical settings and at various patient ages. The authors review their experience with dextrocardia, discuss useful clinical points that aid in evaluating complex anatomy, recount the history of dextrocardia terminology, and note the current inconsistent nomenclature.

Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.

OBJECTIVE: Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first. METHODS: This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out. RESULTS: We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects. CONCLUSIONS: These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.

Congenitally corrected transposition of the great arteries: a unique case from Iraq.

A severely cyanotic 27-month-old Iraqi child was transferred to the United States for surgical treatment of suspected tetralogy of Fallot. Her diagnostic studies showed dextrocardia, congenitally corrected transposition of the great arteries, hypoplastic left-sided ventricle, interrupted inferior vena cava, and severe pulmonic stenosis. Given the anatomic constraints as well as the absence of long-term medical care, the decision was made to pursue single-ventricle palliation. The patient recovered from a superior cavopulmonary anastomosis without event and has since returned to her native Iraq.