Situs anomalies present a diagnostic challenge to radiologists because of the overlapping spectrum of findings commonly seen in asplenia and polysplenia. [ncbi.nlm.nih.gov]

In 18 patients (64.3%) there were 2 balanced ventricles; of the other 10 patients, 9 (32.1%) presented right and 1 (3.6%) left ventricular dominance. Ventricular septal defect was present in 12 cases (42.8%). [moh-it.pure.elsevier.com]

In her adulthood, echocardiogram presented left atrial isomerism and dextrocardia, interruption of the inferior vena cava, atrioventricular septal defect (partial presentation), patent arterial duct with aortopulmonary shunt. [rb.org.br]

• Asymptomatic

  CONCLUSION: Asymptomatic children with heterotaxia syndrome have a low risk of adverse outcome related to intestinal rotation abnormalities. [ncbi.nlm.nih.gov]

• Trisomy 21

  This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes. The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation. [diki.pl]

  Karyotype analysis is often warranted in any form of complete duodenal obstruction, as 30% of patients with duodenal atresia also have Trisomy 21 or Down syndrome [12]. [ncbi.nlm.nih.gov]

• Surgical Procedure

  In this case of congenital heart defects, three specific surgical procedures were necessary to make heart transplantation feasible. A synthetic patch was interposed in the single atrium to create two separate atria. [ncbi.nlm.nih.gov]

  The procedures include the Norwood procedure, hemi-Fontan or Glenn operation, and the Fontan procedure. [chop.edu]

• Chest Discomfort

  discomfort, recurrent pulm infctn, palpn, dizzy, syncope; if partial could have herniation thru the defect w ventricular strangulation --> death, -Dx- few Si on PE, may have cresc-descresc murmur at LSB bc turbulant Q in a very mobile heart, hyperactive [sites.google.com]

• Epigastric Pain

  Patients with IDD can have many symptoms such as epigastric pain, gastrointestinal bleeding, outlet obstruction and recurrent pancreatitis, and the typical sign seen on duodenography is called the "wind sock sign".( 10 ) Thus, we could diagnose our patient [synapse.koreamed.org]

• Hypertension

  A special focus has been placed on noninvasive imaging techniques, normative blood pressure standards, suggested approaches to pediatric hypertension, detection and management of lipid abnormalities as recommended by the Expert Panel, pediatric arrhythmias [books.google.com]

  Arora and Robert Anderson, Bodily isomerism is an independent risk factor for pulmonary hypertension in adults with congenital heart disease, Therapeutic Advances in Respiratory Disease, 10, 3, (194), (2016). [doi.org]

  Previously known history of portal hypertension and bleeding varices controlled with sclerotherapy for last 2 years. LFTs in normal range now – Childs grade A. So taken up for lap chole and burnt fingers again. [mohindersingh98.wordpress.com]

  Session Title: FIT Clinical Decision Making: Congenital Heart Disease, Valvular Heart Disease, Pulmonary Hypertension Abstract Category: Congenital Heart Disease Presentation Number: 1152-276 2016 American College of Cardiology Foundation [onlinejacc.org]

• Heart Murmur

  Upon examination, arrhythmia and heart murmur may raise further suspicion of a cardiac abnormality. Non-cardiac symptoms include impairments of the liver and gastrointestinal tract. [en.wikipedia.org]

• Cardiomegaly

  Physical examination was normal, electrocardiography detected a low atrial rhythm of 45 beats per minute ( Figure 1, arrow), chest X-ray showed a slight cardiomegaly and echocardiography highlighted the existence of a dilated coronary sinus (13 × 17 mm [em-consulte.com]

  Chest computed tomography angiography demonstrating dextrocardia, cardiomegaly and atrial septal defect (arrow). Figure 2. [rb.org.br]

  Findings There was no evidence of acute infiltrate on front (PA) or lateral chest films, which showed mild cardiomegaly; bilateral morphologically left main stem bronchii (Figure 1). [appliedradiology.com]

  Chest radiographs showed mild cardiomegaly, mild congestion of the pulmonary vasculature, and small bilateral pleural effusions. [thij.org]

• Chest Pain

  Four months ago the patient presented sudden worsening of dyspnea associated with chest pain, mild cyanosis, systolic murmur more audible in the pulmonary focus, with fixed split of S2, physiological vesicular murmurs and oxygen saturation at 70%. [rb.org.br]

  She had presented at another hospital with sudden dyspnea and transient neck pain, followed by 5 days of progressive dyspnea and orthopnea. [thij.org]

• Prolapse

  […] assoc w intra and extracardiac xx- forebrain prolapse, meningocele, cleft lip/palate -Thoracoabdominal- partial absence/cleft of lower sternum, crescentic midline ant diaphragmatic defect, defect of the diaphragmatic parietal pericardium--> free pericardioperitoneal [sites.google.com]

• Dizziness

  […] formation of the septum transversum (if diaphragmatic) -1/3 have assoc pulm lesion- bronchigenic cyst, sequestration, & congen hrt dz (TOF) -Sx- only Sx if assoc dz- CDH, CHD; or only nonSp Sx like vague L chest discomfort, recurrent pulm infctn, palpn, dizzy [sites.google.com]

• Hyperactivity

  L chest discomfort, recurrent pulm infctn, palpn, dizzy, syncope; if partial could have herniation thru the defect w ventricular strangulation --> death, -Dx- few Si on PE, may have cresc-descresc murmur at LSB bc turbulant Q in a very mobile heart, hyperactive [sites.google.com]

A minimal workup should include 1: chest radiograph echocardiogram: to assess for congenital heart disease abdominal ultrasound: to assess intra-abdominal contents (especially spleen) upper GI series: to rule out malrotation Treatment and prognosis Treatment [radiopaedia.org]

The 34 patients were divided into two groups on the basis of their gastrointestinal workup for suspected IRFA. The 28 patients in group A had no upper gastrointestinal (GI) contrast study performed prior to symptoms suggestive of IRFA. [ncbi.nlm.nih.gov]

Prophylactic surgery for malrotation is not beneficial in asymptomatic patients, and this is well described in existing literature. [8] The diagnostic workup of cases with suspected PCD requires a thorough clinical and physical examination along with [ijabmr.org]

[…] catastrophe, such as midgut or gastric volvulus, also undergo plain radiography as part of their initial diagnostic imaging examination. [21, 22] On the other hand, patients with biliary atresia do not undergo plain radiography as part of their initial workup [emedicine.medscape.com]

• Howell-Jolly Bodies

  We report a case of a 12-year-old girl with complex CHD who was noted to have Howell-Jolly bodies on her peripheral blood smear at birth, but disappeared at 2 months of age and radiographic evidence of splenic tissue with situs inversus. [ncbi.nlm.nih.gov]

  Splenic function can be assessed with a blood test that looks for Howell-Jolly bodies. In extreme cases of splenic dysfunction, surgical repair or removal of the spleen may be required. [pcdfoundation.org]

  […] if no spleen seen, & +Howell Jolly bodies on CBC--> 100% confidence it is asplenia -if asplenia, often see midline liver, often w 2 lobes of = size, that look like R lobes -check to see if hepatic veins drain directly into atrium, instead of IVC -IVC [sites.google.com]

  Abell Imaging 20（6）：518 520敗血症性ショックを有する患者の先天性低脾性症の診断につながる末梢血塗抹標本のHowell-Jolly body（2015年）、CrossRefPubMedGoogle ScholarMathew H、Dittus C、Malek A、Negroiu A. [jameshillwi.over-blog.com]

  The spleen should be evaluated by ultrasound and a peripheral blood smear performed to document the presence or absence of Howell–Jolly bodies, red blood cell inclusions indicative of abnormal spleen function. [doi.org]

She had been treated for gastritis and duodenal ulcer 3 years previously and she had voluntarily stopped treatment. She constantly had the symptom of dyspepsia, but she had not received medical treatment for this. [synapse.koreamed.org]

A minimal workup should include 1 : chest radiograph echocardiogram: to assess for congenital heart disease abdominal ultrasound: to assess intra-abdominal contents (especially spleen) upper GI series: to rule out malrotation Treatment and prognosis Treatment [radiopaedia.org]

Management and treatment Heart malformations and associated lesions require a specific management, but the lateralization defect itself does not require any particular treatment. [orpha.net]

The treatment of Heterotaxy Syndrome may include medications and/or surgery to correct malformations The prognosis of Heterotaxy Syndrome is dictated by the severity of malformations. [dovemed.com]

A minimal workup should include 1 : chest radiograph echocardiogram: to assess for congenital heart disease abdominal ultrasound: to assess intra-abdominal contents (especially spleen) upper GI series: to rule out malrotation Treatment and prognosis Treatment [radiopaedia.org]

Prognosis is generally poor in those affected with cardiac abnormalities. [appliedradiology.com]

Elucidation of the molecular-genetic mechanisms of left-right development will greatly increase our understanding of the etiology of this complex group of congenital heart defects. [ncbi.nlm.nih.gov]

Reasons for Referral: Confirm a clinical diagnosis for a genetic etiology for heterotaxia Carrier testing Positive family history Methodology: Next generation sequencing will analyze the exons or coding regions of 15 Heterotaxia-associated genes using [knightdxlabs.ohsu.edu]

Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology. [content.iospress.com]

Etiology In patients with heterotaxia, mutations have been identified in several genes ( LEFTY A, ACVR2B, NODAL, CFC1, INVERSINE ). All patients were heterozygous (neither compound heterozygous nor homozygous). [orpha.net]

Eva Bermejo and María Luisa Martínez-Frías, Prevention, Diagnosis and Services, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_4, (55-75), (2010). Jennifer L. Kornosky and Hamisu M. [doi.org]

An epidemiological analysis of heterotaxia‐asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case‐control study of the ECEMC database. [onlinelibrary.wiley.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.it]

An epidemiological analysis of heterotaxia-asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case-control study of the ECEMC database. [ncbi.nlm.nih.gov]

Bronchial tree and lungs [ edit ] Pathophysiology in the bronchial tree can be observed by radiography. [en.wikipedia.org]

Bronchial tree and lungs Pathophysiology in the bronchial tree can be observed by radiography. [ipfs.io]

We propose that evaluating patients with heterotaxia syndrome for IRFA while asymptomatic may prevent the need for emergency abdominal surgery in patients that have major cardiovascular anomalies. [ncbi.nlm.nih.gov]

In studies to determine the cause of these mutations, Nanette Nascone-Yoder and co-workers found that the compound also prevents normal blood-vessel formation and prevents cells from migrating by increasing cellular adhesion. [chemistryviews.org]

Eva Bermejo and María Luisa Martínez-Frías, Prevention, Diagnosis and Services, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_4, (55-75), (2010). Jennifer L. Kornosky and Hamisu M. [doi.org]

It is important to be familiar with the spectrum of situs anomalies to prevent trauma to the portal vein with serious complications during surgery. [keio.pure.elsevier.com]