-
Cureus May 2024Achalasia is a rare esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone, and absent peristalsis in...
Achalasia is a rare esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone, and absent peristalsis in the esophagus. Management of achalasia includes pneumatic dilation (PD), Botulinum toxin A (BTA) injections to LES, per oral endoscopic myotomy (POEM), and a laparoscopic Heller myotomy (LHM). Situs inversus is a rare congenital condition in which the abdominal and thoracic organs are located in a mirror image of the normal position in the sagittal plane. We herein present a case of a patient with Type II achalasia who underwent an LHM and toupet fundoplication in the setting of an isolated laterality malposition of the liver on the left side of the abdomen. Single organ congenital lateralization defects are extremely rare with literature describing few case reports and case series. A much rarer condition is isolated organ situs inversus. In the foregut, most reports of isolated situs inversus are limited to isolated gastric situs inversus, dextrogastria. Most isolated liver malposition has described situs ambiguous, at the midline, usually associated with polysplenia. Our patient had the normal position of the foregut structures, including the stomach, spleen, pancreas, and duodenum, except for the isolated situs inversus of the liver. Because of the unusual anatomy, performing an LHM was quite challenging. Our workup approach and intraoperative considerations are described. By displacing the larger left lobe of the liver, we were able to safely complete a standard heller myotomy with adequate length and distally across the gastroesophageal junction. Our patient had an uncomplicated post-operative course, and at follow-up has continued to show improvements in her dysphagia and her quality of life.
PubMed: 38872663
DOI: 10.7759/cureus.60229 -
ACG Case Reports Journal Dec 2023Congenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and diverts directly into...
Congenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and diverts directly into the systemic circulation through abnormal vessels. We report a case of a 4-year-old girl with heterotaxy syndrome, polysplenia, and situs inversus presenting with persistent hypoxemia who was found to have pulmonary arteriovenous malformations (PAVMs) and hypoxemia secondary to a congenital portosystemic shunt. Management of this patient's PAVMs involved endovascular occlusion of the portosystemic shunt with subsequent resolution of hypoxemia. PAVMs secondary to extrahepatic portosystemic shunt should be explored as a cause of progressive cyanosis in children with heterotaxy, polysplenia, and interrupted inferior vena cava with azygous continuation.
PubMed: 38059116
DOI: 10.14309/crj.0000000000001201 -
Cardiology in the Young Sep 2023Portosystemic venous shunts occur in patients with polysplenia after the Fontan operation. In the long term, these shunts are associated with hyperammonaemia and...
Portosystemic venous shunts occur in patients with polysplenia after the Fontan operation. In the long term, these shunts are associated with hyperammonaemia and portal-systemic encephalopathy. Since some shunts are long and tortuous, catheter interventions to close them could be challenging. Instead, a steerable microcatheter could be used for coil embolisation of tortuous portosystemic venous shunts.
Topics: Humans; Fontan Procedure; Portal Vein; Cardiovascular Abnormalities; Hepatic Encephalopathy
PubMed: 37042614
DOI: 10.1017/S1047951123000859 -
Multimedia Manual of Cardiothoracic... Aug 2023Total anomalous pulmonary venous return due to septum primum malposition is a poorly understood condition despite being very common in left atrial isomerism or...
Total anomalous pulmonary venous return due to septum primum malposition is a poorly understood condition despite being very common in left atrial isomerism or polysplenia syndrome. Due to the leftward displacement of the septum primum, either the two right pulmonary veins or all four pulmonary veins can drain abnormally into the right atrium, despite their correct position. In other words, the four pulmonary veins (or the two right pulmonary veins), looking from outside the heart, return at the back of the atrium in the normal position. Nevertheless, from the inside of the heart, two or all four pulmonary veins drain into the right atrium due to the leftward displacement of the septum primum. As an example, we report a 5-month-old patient with severe malposition of the septum primum and consequent total anomalous pulmonary venous drainage into the right atrium. The patient underwent surgical correction with resection of the malpositioned septum primum and reconstruction of a normal interatrial septation with a pericardial patch.
Topics: Humans; Infant; Heterotaxy Syndrome; Heart Septal Defects, Atrial; Scimitar Syndrome; Heart Atria; Pulmonary Veins
PubMed: 37578040
DOI: 10.1510/mmcts.2023.035 -
Molecular Syndromology Mar 2024Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms...
INTRODUCTION
Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The " () gene encodes for a centrosomal and ciliary protein. Homozygous variants in the gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features.
METHODS
Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family.
RESULTS
The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C>T, p. Arg57*) pathogenic variant was detected in exon 3 of the gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein.
DISCUSSION/CONCLUSION
Our study expands the phenotypical manifestations and variation database of variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.
PubMed: 38585545
DOI: 10.1159/000535253 -
Cureus Mar 2024Heterotaxy syndrome (HS) occurs in developing embryos due to an inability to establish the normal anatomy, which manifests as abnormal symmetry and malposition of the...
Heterotaxy syndrome (HS) occurs in developing embryos due to an inability to establish the normal anatomy, which manifests as abnormal symmetry and malposition of the thoracoabdominal viscera and vasculature, including cardiac and extracardiac anomalies. It is classified as right or left atrial isomerism. This classification depends on the atrial appendage morphology and the extracardiac defect associated with it. Right isomerism usually presents with right atrial appendages (RAA), asplenia, total anomalous pulmonary venous return, and severe pulmonary stenosis. In contrast, left isomerism usually presents with left atrial appendages, polysplenia, and an interrupted inferior vena cava (IVC). The interrupted IVC feature has never been reported with the right isomerism. Diagnosis of HS may take place prenatally or a few days postnatally due to the severe cardiac defect, whereas a left isomerism diagnosis may be delayed until adulthood. Despite the popularity of the HS classification, we reported a rare presentation of an interrupted IVC, dextrocardia, a right-sided aortic arch, and a total anomalous pulmonary venous return, which occurred along with the right isomerism major components (asplenia syndrome).
PubMed: 38586636
DOI: 10.7759/cureus.55698 -
SA Journal of Radiology 2024Heterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs. This...
UNLABELLED
Heterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs. This report describes the case of a 39-year-old female, previously well, who presented with bowel obstruction. CT showed features of left isomerism, with malrotation and volvulus.
CONTRIBUTION
Heterotaxy syndrome consists of cardiac and non-cardiac manifestations. Imaging studies play a crucial role in the individualised management of the patient.
PubMed: 38840822
DOI: 10.4102/sajr.v28i1.2831 -
Journal of Surgical Case Reports Mar 2024Intestinal malrotation and duplication of the inferior vena cava are rarely diagnosed in adult patients; however, incidence is likely underestimated as they are usually...
Intestinal malrotation and duplication of the inferior vena cava are rarely diagnosed in adult patients; however, incidence is likely underestimated as they are usually asymptomatic. These congenital malformations have been previously reported in the same patient twice but never with colonic obstruction or ischaemia. A 25-year-old female presented with nausea, vomiting, obstipation, and abdominal pain, and on computed tomography of the abdomen and pelvis was diagnosed with a caecal volvulus and pneumatosis coli associated with intestinal malrotation requiring emergency right hemicolectomy. Incidentally, the patient was noted to have duplication of the inferior vena cava, azygos continuation of the inferior vena cava, and splenic fragmentation. This constellation of symptoms has not been reported in the literature previously. The pattern of malformations follows that of polysplenia syndrome. Although rare, awareness of these malformations can be useful to clinicians.
PubMed: 38463733
DOI: 10.1093/jscr/rjae132 -
Asian Journal of Surgery Jan 2024
Topics: Humans; Heterotaxy Syndrome; Kidney; Situs Inversus; Tomography, X-Ray Computed; Male; Adult
PubMed: 37925289
DOI: 10.1016/j.asjsur.2023.10.065 -
Pediatric Radiology Feb 2024Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We...
Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We describe a case of a 5-month-old male with heterotaxy with polysplenia presenting with new onset hypoxemia. Subsequent evaluation identified an extrahepatic portosystemic shunt arising from the confluence of the main portal and superior mesenteric veins draining into the left renal vein. To treat his hypoxemia and prevent future complications of shunting, the patient underwent a successful single-stage endovascular closure.
Topics: Infant; Humans; Male; Child; Hepatopulmonary Syndrome; Portasystemic Shunt, Transjugular Intrahepatic; Portal Vein; Vascular Malformations; Hypoxia
PubMed: 38141079
DOI: 10.1007/s00247-023-05837-w