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Prenatal Diagnosis Mar 2023A couple was referred for prenatal counseling at gestational age 21 weeks for revealed situs inversus with levocardia (HP:0,031,592), atrial situs inversus...
AIMS
A couple was referred for prenatal counseling at gestational age 21 weeks for revealed situs inversus with levocardia (HP:0,031,592), atrial situs inversus (HP:0,011,538), congenitally corrected transposition of the great arteries (ccTGA, HP:0,011,540) with ventricular septal defect (HP:0,001,629) and right aortic arch (HP:0,012,020). The couple had multiple prior pregnancies with complex congenital heart defects (CHDs, HP:0,001,627) in male fetuses. Testing was initiated to identify any fetal abnormality. The genetic cause of the observed prenatal defects was investigated.
MATERIALS AND METHODS
Whole exome sequencing and Sanger sequencing were performed on DNA extracted from parental blood samples and skeletal muscle tissue of the aborted fetuses.
RESULTS
A pathogenic hemizygous missense variant in ZIC3 (NM_003413.4: c.895 T > C) associated with X-linked heterotaxy-1 (HTX1) and multiple types of congenital heart defect-1 (CHTD1) (OMIM #306955) was identified, which was inherited from the mother.
CONCLUSION
ZIC3 encodes a highly conserved zinc-finger protein that is highly correlated with CHDs. The present study of a Han Chinese family with CHDs expands the mutation spectrum of ZIC3 and provides further evidence that ZIC3 plays important roles in CHDs.
Topics: Female; Humans; Infant; Male; Pregnancy; East Asian People; Heart Defects, Congenital; Heterotaxy Syndrome; Homeodomain Proteins; Mutation; Transcription Factors; Transposition of Great Vessels; Prenatal Diagnosis
PubMed: 36567274
DOI: 10.1002/pd.6294 -
Annals of Surgical Treatment and... Dec 2014We report a case of common bile duct (CBD) cancer, successfully managed with pancreaticoduodenectomy, in a patient with isolated levocardia, malrotation, and situs...
We report a case of common bile duct (CBD) cancer, successfully managed with pancreaticoduodenectomy, in a patient with isolated levocardia, malrotation, and situs ambiguous (without splenic anomalies). A 59-year-old male patient was referred to Chung-Ang University Hospital with epigastric pain and jaundice. CT and MRI revealed distal CBD cancer without significant lymphadenopathy. Multiple abdominal anatomic anomalies were identified preoperatively, whereas no anatomic anomalies were detected within the chest. The patient had a right-sided stomach and spleen, liver at the midline, several vascular variations around the celiac axis, and intestinal malrotation, but the inferior vena cava and portal vein were normal. A pancreaticoduodenectomy was performed to treat the cancer. The postoperative course was favorable, and the patient was started on combined chemotherapy and radiotherapy 15 days after the surgery. In this case study, we report that pylorus preserving pancreaticoduodenectomy was successful for distal CBD cancer in a patient with rare situs anomalies.
PubMed: 25485244
DOI: 10.4174/astr.2014.87.6.340 -
Surgical and Radiologic Anatomy : SRA Apr 2016Situs inversus incompletus is a rare congenital condition in which the major abdominal organs are reversed or mirrored from their normal positions. It is often...
Situs inversus incompletus is a rare congenital condition in which the major abdominal organs are reversed or mirrored from their normal positions. It is often associated with multiple congenital anomalies. We present the case of a 38-year-old woman with dyspnea and a clinical history of chronic kidney disease and kidney transplantation. Echocardiography showed a right atrial mass, and analysis of multidetector computed tomography angiography revealed the interruption of the inferior vena cava with an increase of the azygos vein and azygos continuation. These congenital malformations are often associated with deep vein thrombosis and/or pulmonary thromboembolism and explained the occurrence of dyspnea. Cardiac magnetic resonance with contrast medium confirmed the presence of the right atrial mass, the characteristics of which were attributed to interatrial thrombus, which was further confirmed by the success of thrombolytic therapy and the remission of symptoms. In conclusion, we described a case of situs inversus with levocardia in association with infrahepatic interruption of the inferior vena cava, and azygos continuation with cardiac thrombus and chronic renal failure.
Topics: Adult; Azygos Vein; Female; Humans; Levocardia; Thrombosis; Vena Cava, Inferior
PubMed: 25737490
DOI: 10.1007/s00276-015-1454-3 -
Electronic Physician Jan 2017Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients...
Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients are diagnosed in infancy or early age. This case report describes a 35-year old man with congenitally corrected transposition of the great arteries which presented with a five month history of exertional dyspnea. A diagnosis was confirmed by transesophageal echocardiogram, showing situs inversus, levocardia, atrioventricular and ventriculoarterial discordance. He underwent physiologic repair, and was discharged thirty five days after the operation, in a good general condition. Although management of the corrected transposition of the great arteries patients remains controversial, the recommendation is that physiologic repair may be the procedure of choice for some patients, particularly complicated cases.
PubMed: 28243408
DOI: 10.19082/3570 -
Experimental and Therapeutic Medicine Feb 2016The present study describes the case of a 2.5-year-old girl with double patent ductus arteriosus (PDA) that was successfully treated following interventional and...
The present study describes the case of a 2.5-year-old girl with double patent ductus arteriosus (PDA) that was successfully treated following interventional and surgical treatment. Bilateral ductus arteriosus is a very rare condition, which is assumed to occur when the branchial-type arterial system transforms into the mammalian-type arterial system during the development of the aorta and its branches. This case was misdiagnosed as ordinary PDA by echocardiography prior to the first surgery and the surgery was not successful because of poor accessibility. Enhanced computed tomography subsequently showed situs solitus, atrial situs, levocardia, right-sided aortic arch with right-sided descending aorta, an isolated left subclavian artery and double PDA. Interventional treatment was performed and intraoperative aortic arch angiography showed that the descending aorta was the origin of the first funnel-type PDA (PDA-1). The left subclavian artery was not connected to the aorta but was connected to the pulmonary artery with a very narrow winding duct, which was PDA-2. Interventional treatment via PDA-2 also failed because passing a guidewire through the twisted PDA-2 was difficult. The child was immediately transferred to the surgical operation room for double PDA ligation and left subclavian artery reconstruction under median thoracotomy. The surgical procedure succeeded and the patient recovered quickly. The failure of the interventional treatment may be attributed to the difficulty in establishing a path. The soft tip of the hardened guidewire was relatively long. If the hardened part of the wire was sent to the appropriate place to support the pathway, the soft tip would be forced to enter the vertebrobasilar artery system. A similar problem was encountered when the left subclavian artery was selected for intervention. Shortening the length of the soft tip of the hardened guidewire may have enabled smooth completion of the establishment of the pathway. However, this type of hardened guidewire requires specific production.
PubMed: 26893638
DOI: 10.3892/etm.2015.2916 -
Archives of Disease in Childhood.... Apr 2019
Topics: Duodenal Obstruction; Female; Humans; Infant, Newborn; Intestinal Atresia; Levocardia; Radiography; Situs Inversus
PubMed: 29703815
DOI: 10.1136/archdischild-2018-314803 -
BMJ Case Reports Apr 2022
Topics: Congenitally Corrected Transposition of the Great Arteries; Humans; Levocardia; Situs Inversus; Tomography, X-Ray Computed; Transposition of Great Vessels
PubMed: 35428663
DOI: 10.1136/bcr-2021-245839 -
Surgical Case Reports Feb 2018Situs inversus is a rare congenital condition that is currently classified into two types: complete situs inversus (situs inversus totalis, SIT) and partial situs...
BACKGROUND
Situs inversus is a rare congenital condition that is currently classified into two types: complete situs inversus (situs inversus totalis, SIT) and partial situs inversus (situs inversus partialis, SIP). In SIP patients, some organs are inverted and others are in their expected position, and individual patient variation in organ position increases surgical difficulty. Several surgeons have performed laparoscopic or robotic surgeries in situs inversus patients, but almost all were SIT patients. We report the first case, to our knowledge, of an SIP patient with gastric cancer who was successfully treated by robot-assisted distal gastrectomy (RADG) with lymph node dissection.
CASE PRESENTATION
A 64-year-old woman diagnosed with early gastric cancer on the posterior midbody of the stomach was referred to our hospital for treatment. Computed tomography showed levocardia and inverted abdominal organs without enlarged lymph nodes or distant metastases. Polysplenia syndrome, intestinal malrotation, and left-sided gallbladder were also detected. RADG with D1+ lymph node dissection and Billroth I reconstruction (delta-shaped anastomosis) were performed using robotics. Hepatopathy caused by a liver retractor and pancreatic fistula were identified during the postoperative course, and the latter was classified as grade II based on Clavien-Dindo classification. The patient was discharged 18 days after the operation.
CONCLUSIONS
Preoperative three-dimensional imaging is beneficial, and anatomical organ identification should be routinely performed, especially in SIP patients. We consider RADG a therapeutic option in SIP patients.
PubMed: 29441475
DOI: 10.1186/s40792-018-0422-7 -
A&A Practice Aug 2020
Intraoperative Transesophageal Echocardiography in a Rare Case of Situs Inversus, Levocardia, and Congenitally Corrected Transposition of Great Arteries: A Sequential Segmental Analysis.
Topics: Arteries; Congenitally Corrected Transposition of the Great Arteries; Echocardiography, Transesophageal; Humans; Levocardia; Situs Inversus
PubMed: 32845108
DOI: 10.1213/XAA.0000000000001297 -
Cardiology Research Dec 2015We present a case of a 19-year-old female presenting with cyanosis since birth. The major anomaly demonstrated was a "triply twisted heart" with a balanced physiology,...
We present a case of a 19-year-old female presenting with cyanosis since birth. The major anomaly demonstrated was a "triply twisted heart" with a balanced physiology, allowing her to survive into adulthood. Non-invasive imaging was done using 2D and real-time 3D (or 4D) echocardiography with multi-slice imaging from 4D volume datasets. Findings were confirmed using cardiac magnetic resonance imaging (MRI). A segmental approach revealed atrial and visceral situs inversus, levocardia, atrioventricular discordance, and ventriculoarterial discordance. Both the aorta and pulmonary artery were malposed and arise from the right ventricle (double outlet right ventricle or DORV). There was also a complete atrioventricular septal defect (CAVSD) associated with a functional single atrium and a functional univentricle (single ventricle). Other findings include a severe pulmonic stenosis (PS), preserved right and left ventricular systolic function, and a normal pulmonary arterial pressure. She also had a persistent left superior vena cava (SVC) that drains into the morphologic right atrium, while the right-sided SVC drains into the morphologic left atrium. A multidisciplinary team deemed that management be palliative. She is on regular follow-up at our clinics for non-invasive monitoring. To our knowledge, this is the first reported case in an adult with this combination of anomalies.
PubMed: 28197259
DOI: 10.14740/cr440w