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Journal of Cardiovascular Magnetic... Jun 2024Disordered lymphatic drainage is common in congenital heart diseases (CHD), but thoracic duct (TD) drainage patterns in heterotaxy have not been described in detail....
BACKGROUND
Disordered lymphatic drainage is common in congenital heart diseases (CHD), but thoracic duct (TD) drainage patterns in heterotaxy have not been described in detail. This study sought to describe terminal TD sidedness in heterotaxy and its associations with other anatomic variables.
METHODS
This was a retrospective, single-center study of patients with heterotaxy who underwent cardiovascular magnetic resonance imaging at a single center between July 1, 2019 and May 15, 2023. Patients with (1) asplenia (right isomerism), (2) polysplenia (left isomerism) and (3) pulmonary/abdominal situs inversus (PASI) plus CHD were included. Terminal TD sidedness was described as left-sided, right-sided, or bilateral.
RESULTS
Of 115 eligible patients, the terminal TD was visualized in 56 (49%). The terminal TD was left-sided in 25 patients, right-sided in 29, and bilateral in two. On univariate analysis, terminal TD sidedness was associated with atrial situs (p = 0.006), abdominal situs (p = 0.042), type of heterotaxy (p = 0.036), the presence of pulmonary obstruction (p = 0.041), superior vena cava sidedness (p = 0.005), and arch sidedness (p < 0.001). On multivariable analysis, only superior vena cava and aortic arch sidedness were independently associated with terminal TD sidedness.
CONCLUSIONS
Terminal TD sidedness is highly variable in patients with heterotaxy. Superior vena cava and arch sidedness are independently associated with terminal TD sidedness. Type of heterotaxy was not independently associated with terminal TD sidedness. This data improves the understanding of anatomic variation in patients with heterotaxy and may be useful for planning for lymphatic interventions.
PubMed: 38909657
DOI: 10.1016/j.jocmr.2024.101050 -
International Journal of Surgery Case... Jun 2024Biliary atresia (BA) is characterized by the presence of persistent cholestatic jaundice during the neonatal period. This group of patients is at higher risk for liver...
INTRODUCTION AND IMPORTANCE
Biliary atresia (BA) is characterized by the presence of persistent cholestatic jaundice during the neonatal period. This group of patients is at higher risk for liver disease and/or portal hypertension compared with other chronic liver diseases.
CASE PRESENTATION
We present a newborn patient who had biliary stools early postnatally, but her gallbladder was not seen on radiological examination and was referred to our clinic. On examination, polysplenia was seen, and the inferior vena cava was not seen. The patient's stool color changed to a creamy stool without bile three weeks postnatally. The neonate was diagnosed with biliary atresia and splenic malformation (BASM) syndrome. The patient underwent a Kasai portoenterostomy in the 3rd week of age and was preoperatively diagnosed with malrotation and treated with a Ladd procedure at the same time. The patient had a postoperative stool with bile and decreased bilirubinemia with a normal defecation period.
CLINICAL DISCUSSION
BASM syndrome, clinically has different causes and a worse prognosis than isolated BA. The syndrome can lead to end-stage cirrhosis and liver failure if left untreated. Although timely Kasai surgery is the standard treatment for BA, the age of the patient at the time of the surgery is different depending on BA groups.
CONCLUSION
The most important prognostic factors for BASM syndrome are early diagnosis and treatment. Despite this, the patients need careful follow-up. Postoperative adjuvant steroid therapy may have a good impact on the outcomes.
PubMed: 38909387
DOI: 10.1016/j.ijscr.2024.109937 -
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 -
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 -
Interventional Cardiology Clinics Jul 2024Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins.... (Review)
Review
Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins. CPSSs often occur as an isolated congenital anomaly, but they can also coexist with congenital heart disease (CHD). Owing to their myriad consequences on multiple organ systems, familiarity with CPSS is of tremendous importance to the care of patients with CHD. The rationale and timing for interventions to embolize CPSS in this scenario are discussed. Specific shunt embolization techniques are beyond the scope of this article.
Topics: Humans; Heart Defects, Congenital; Portal Vein; Vascular Malformations; Embolization, Therapeutic; Portal System
PubMed: 38839165
DOI: 10.1016/j.iccl.2024.03.006 -
International Journal of Surgery Case... Jun 2024Paraduodenal hernias are difficult to diagnose due to their unusual presentation. Herein, five new cases are added to the literature.
INTRODUCTION AND IMPORTANCE
Paraduodenal hernias are difficult to diagnose due to their unusual presentation. Herein, five new cases are added to the literature.
CASE PRESENTATION
Four male and one female child complained of paraduodenal hernias, two on the right side and three on the left side. The intestinal part that herniated inside the hernia sac was also malrotated in four patients. One patient had Meckel's diverticulum with a herniated intestine. One infant had extrahepatic biliary disease, a single atrium, polysplenia, intestinal malrotation, and a left paraduodenal hernia. Exploratory labarotomy was done for reduction of the intestine, reorientation, and repair of hernia orifices.
CLINICAL DISCUSSION
Paraduodenal hernia is a component of malrotation. Cautious dissection of the hernia orifice is required to keep away from injuries to the inferior mesenteric vein or left colic artery in the course of the restoration of the left paraduodenal hernia. Also, the superior mesenteric vessels may be injured in the course of the restoration of the right paraduodenal hernia.
CONCLUSION
There is a correlation between the occurrence of PDH with malrotation. The diagnosis of malrotation can be made with an ultrasound abdomen; however, it is true that ultrasound cannot make a confirmed diagnosis in all patients. Once the diagnosis of a mesocolic hernia has occurred, surgical repair is mandatory by closure of the defect.
PubMed: 38714067
DOI: 10.1016/j.ijscr.2024.109696 -
Pediatrics and Neonatology Apr 2024Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of...
BACKGROUND
Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs.
METHODS
We retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs.
RESULTS
Dextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage.
CONCLUSION
Our study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.
PubMed: 38692948
DOI: 10.1016/j.pedneo.2023.10.011 -
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 -
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 -
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