-
Archives of Medical Science : AMS 2020
PubMed: 32864021
DOI: 10.5114/aoms.2020.97972 -
The American Journal of Case Reports Jun 2020BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary...
BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e.g., musculoskeletal) in the form of a radius aplasia and partial syndactyly of the thumb and index finger of the left hand. These associated anomalies have not been reported before. CONCLUSIONS This case shows the need for paying increased attention to the implications of other extracardiac anomalies that can be associated with heterotaxy syndrome.
Topics: Female; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Infant, Newborn; Intensive Care Units; Limb Deformities, Congenital; Pancreas; Pancreatic Diseases; Spleen
PubMed: 32491997
DOI: 10.12659/AJCR.923341 -
Clinical Case Reports May 2020Polysplenia is heterotaxy syndrome or bilateral left-sidedness. We report a case of polysplenia syndrome in order to draw attention to this rare syndrome that must be...
Polysplenia is heterotaxy syndrome or bilateral left-sidedness. We report a case of polysplenia syndrome in order to draw attention to this rare syndrome that must be excluded in an infant presenting with congenital heart disease and intestinal malformations.
PubMed: 32477531
DOI: 10.1002/ccr3.2768 -
Molecular Genetics & Genomic Medicine Jun 2020There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions....
BACKGROUND
There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.
METHODS
Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.
RESULTS
We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype.
CONCLUSIONS
Haploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.
Topics: Abnormalities, Multiple; Autistic Disorder; Child; Chromosomes, Human, Pair 20; Haploinsufficiency; Hepatocyte Nuclear Factor 3-beta; Humans; Hypothyroidism; Male; Phenotype; Syndrome
PubMed: 32277595
DOI: 10.1002/mgg3.1086 -
Cureus Jan 2020Heterotaxy syndrome (Situs ambiguus) is a condition in which the internal organs are abnormally arranged in the chest and abdomen. Individuals with this condition have...
Heterotaxy syndrome (Situs ambiguus) is a condition in which the internal organs are abnormally arranged in the chest and abdomen. Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. Unlike situs inversus, it often causes serious health problems. This report describes a case of a 49-year-old Hispanic female with a significant medical history of situs ambiguous diagnosed at birth in Cuba. She has had little to no follow-up in adulthood due to being "healthy." She presented to the emergency room with intractable pain in the left lower quadrant and left flank for two days. Heterotaxy syndrome was found incidentally on CT scan of the abdomen/pelvis (plain). She was further evaluated with chest X-ray, magnetic resonance imaging of abdomen/pelvis without and with contrast, transvaginal ultrasonography, renal/bladder ultrasonography, left upper quadrant (LUQ) ultrasonography, esophagogastroduodenoscopy (EGD) with biopsy, 2D echocardiogram, and pertinent laboratory tests. Certain unusual findings included azygos continuation of the inferior vena cava (IVC), numerous spleens, atrophic pancreas, dilatation of duodenal C sweep, pelvic mass (possibly arising from right ovary), multiple nabothian cysts, and cardiac dysfunctions (such as severe mitral regurgitation). This report further aims to identify anatomic variants, previously established or otherwise not, in heterotaxy syndrome. Also, there seems to be a lack of identifiable anomalies or associations in regard to female anatomy, particular to this case being the female pelvic anatomy. As previous reports and research have stated, identification of anomalies in this syndrome is key for adequate and optimal management.
PubMed: 32181068
DOI: 10.7759/cureus.6822 -
Indian Journal of Nuclear Medicine :... 2020Situs ambiguous or heterotaxy syndrome is defined as the abnormal arrangement of organs and vessels within the body. Herein, we present an 8-year-old girl with growing...
Situs ambiguous or heterotaxy syndrome is defined as the abnormal arrangement of organs and vessels within the body. Herein, we present an 8-year-old girl with growing right-sided suprarenal masses mimicking adrenal tumors. Technetium-99-m-radiolabeled red blood cells' planar images were inconclusive for the diagnosis of splenic tissue in the right side. Single-photon emission computed tomography/computed tomography imaging clearly identified right-sided functioning spleens and confirmed the diagnosis of situs ambiguous with polysplenia.
PubMed: 31949383
DOI: 10.4103/ijnm.IJNM_157_19 -
Folia Morphologica 2020Duplication of the spleen, classified as a polysplenia syndrome, is a very rare anomaly. Polysplenia is a complex syndrome with a broad spectrum of abnormalities. Other...
Duplication of the spleen, classified as a polysplenia syndrome, is a very rare anomaly. Polysplenia is a complex syndrome with a broad spectrum of abnormalities. Other abnormalities accompanying polysplenia have been previously reported. In this paper, we present a case of duplication of the spleen accompanied by multiple anomalies in the thorax and abdomen.
Topics: Abdomen; Abnormalities, Multiple; Humans; Spleen; Thorax; Tomography, X-Ray Computed
PubMed: 31930467
DOI: 10.5603/FM.a2020.0002 -
The Indian Journal of Radiology &... 2019We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial...
We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA). Although LAI is usually associated with complex cardiac and extracardiac anomalies, the association of LAI and right atrial appendage aneurysm (RAAA) is exceptional. Congenital RAAA itself is an idiopathic, very rare cardiac anomaly characterized by the enlargement of the appendage in the absence of any other cardiac or extra-cardiac defect. The prognosis of the heterotaxy is poor with associated major cardiac malformations and even cases with minor cardiac anomalies are at risk postnatally for complications like biliary atresia, intestinal rotational abnormalities, and immune disorders. In this case, the prenatal diagnosis of the isomerism was mainly based on the abnormalities of caval veins. Although no typical complex cardiac anomaly was present, the HS was associated with biliary atresia, polysplenia, and malrotation of the gut. Associated RAAA further imposed an additional risk of complications such as tachyarrhythmias, thromboembolic events, and aneurysmal rupture.
PubMed: 31741603
DOI: 10.4103/ijri.IJRI_341_19 -
Journal of the Belgian Society of... Oct 2019What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
PubMed: 31646265
DOI: 10.5334/jbsr.1903 -
Congenital Heart Disease Nov 2019Heterotaxy syndrome (HS) is a condition in which the thoracoabdominal organs demonstrate an abnormal lateral arrangement and is often associated with congenital heart...
BACKGROUND
Heterotaxy syndrome (HS) is a condition in which the thoracoabdominal organs demonstrate an abnormal lateral arrangement and is often associated with congenital heart disease (CHD). Little is known about the adult HS population with CHD.
OBJECTIVE
To describe the outcomes and sociodemographics of the adult CHD population with HS.
METHODS
Records of patients 18 years of age or older with diagnoses of both CHD and HS at Texas Children's Hospital from 1964 to 2018 were reviewed.
RESULTS
Sixty-two patients met inclusion criteria. Median age was 22.7 [IQR 19.6-30.0] years; 26 (42%) were female; and 13 (21%) of patients had a gap in care of >3 years. Median follow-up time in adulthood was 2.9 [IQR 1.3-8.2] years. Forty-three (69%) of patients had single ventricle heart disease, 31 (71%) of whom completed Fontan circulation. A total of 36 interventions occurred in 24 patients which included 16 cardiac catherization interventions, 13 electrophysiology-related procedures, and 18 surgical procedures including 2 orthotopic heart transplants. The median age for death or heart transplant was 45.3 (95%CI 34.3-56.1) years. Heart failure-free survival was 80.8 ± 5.2%, 58.7 ± 11.0%, and 31.1 ± 15.7% at 20, 30, and 40 years old, respectively. Cerebrovascular accident-free survival was 84.3 ± 5.1%, 54.2 ± 11.3%, and 40.6 ± 14.5% at 20, 30, and 40 years old, respectively. Tachyarrhythmia-free survival was 54.0 ± 7.1%, 29.2 ± 8.3%, and 19.5 ± 9.7% at 20, 30, and 40 years old and bradyarrhythmia-free survival was 66.0 ± 6.3%, 41.7 ± 9.4%, and 33.4 ± 10.6% at ages 20, 30, and 40 years, respectively.
CONCLUSIONS
At a tertiary referral center, adult patients with CHD and HS have high rates of comorbidities and early death or heart transplant. Longitudinal surveillance and further exploration into factors associated with improved survival in this population are warranted.
Topics: Adult; Age Factors; Cardiac Catheterization; Cardiac Surgical Procedures; Cause of Death; Comorbidity; Disease Progression; Health Status; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Middle Aged; Progression-Free Survival; Retrospective Studies; Risk Factors; Survivors; Texas; Time Factors; Young Adult
PubMed: 31617655
DOI: 10.1111/chd.12856