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Frontiers in Cardiovascular Medicine 2023To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification.
BACKGROUND
To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification.
METHODS
The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery.
RESULTS
Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage. Fetal RI reported typical malformations of gastric vesicles on different sides from the heart, juxtaposition of the IVC with AO, anomalous pulmonary venous connection (APVC), asplenia, and bilateral right atrial appendages; intracardiac malformations of AVSD, SA, single ventricle, pulmonary atresia and stenosis, and DORV. The postnatal verification revealed 3 malformations misdiagnoses and 4 malformations missed diagnoses in LI fetuses and 10 misdiagnoses and 8 missed diagnoses in RI fetuses.
CONCLUSIONS
The proposed five-step prenatal ultrasonography has an important diagnostic value for the identification and classification of heterotaxy syndrome. The different sides of gastric vesicles and cardiac apex are important diagnostic clues for heterotaxy syndrome, featuring disconnected or hypoplastic IVC, typical complex cardiac malformation, and atrioventricular block in fetal LI, and shown APVC, juxtaposition of IVC and AO, and intracardiac malformations such as AVSD, DORV, and LVOTO in fetal RI.
PubMed: 37485264
DOI: 10.3389/fcvm.2023.1195191 -
Congenital Heart Disease Dec 2016Heterotaxy (HTX) is a laterality defect resulting in abnormal arrangement of the thoracic and abdominal organs across the right-left axis, and is associated with... (Review)
Review
Heterotaxy (HTX) is a laterality defect resulting in abnormal arrangement of the thoracic and abdominal organs across the right-left axis, and is associated with multiple anatomic and physiologic disruptions. HTX often occurs in association with complex congenital heart disease. Splenic abnormalities are also common and convey an increased risk of bacteremia (bacteremia) with a high associated mortality. We performed a systematic review of the literature studying the risk of infection in HTX patients and strategies that can be utilized to prevent such infections. Studies were identified for inclusion using PubMed, EMBASE, and OVID, as well as hand search of references from previously identified papers. Published studies specifically investigating bacteremia in HTX were identified and included as long as they were in English. Data were extracted by two separate authors independently with review of any findings that differed between the two authors. There were 42 documented cases of bacteremia in 32 patients. Approximately, 79% of these had absence of a spleen. The average age of bacteremia was 17 months. HTX patients are at high risk for bacteremia leading to mortality, regardless of anatomic splenic type. We propose strategies for the evaluation of splenic function in HTX patients, and review management practices to reduce the impact of infection risk in the HTX population.
Topics: Bacteremia; Bacterial Infections; Heterotaxy Syndrome; Humans; Incidence; Infant; Infant, Newborn; Prognosis; Risk Factors; Spleen
PubMed: 27425254
DOI: 10.1111/chd.12395 -
International Journal of Cardiology Oct 2018Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body,... (Observational Study)
Observational Study
BACKGROUND
Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data.
METHODS
This is a single centre, observational, both retro and prospective study. Cardiac features, surgical management and abdominal ultrasound (US) of all HS patients were reviewed or investigated if missing. We evaluated all anatomical data and their clinical impact on survival, arrhythmias, infections, and heart transplant (HT).
RESULTS
136 patients were classified as RAI (81) and LAI (55). Long-term survival and freedom from HT reached 69.8% and 87.8% at 40 years in RAI and LAI, respectively. Multivariate analysis showed that LAI is an independent predictor for pacemaker implantation (p = 0.019). Splenic status varied in both groups: in RAI, abdominal US showed asplenia, polysplenia and normal spleen in 48%, 4% and 32% of patients, respectively, whereas in LAI polysplenia, asplenia and normal spleen occurred in 64%, 4% and 16% of cases, respectively.
CONCLUSIONS
Mortality was significantly lower (9%) compared to literature (50%). Although patients with RAI experienced a higher mortality, no independent predictors were found. We demonstrated that the obsolete cardiac definition of "asplenia" and "polysplenia" instead of RAI and LAI is misleading, because of the high variability of the splenic phenotype among patients of both groups.
Topics: Adolescent; Adult; Child; Cohort Studies; Female; Follow-Up Studies; Heterotaxy Syndrome; Humans; Male; Phenotype; Prospective Studies; Retrospective Studies; Survival Rate; Time Factors; Young Adult
PubMed: 30041775
DOI: 10.1016/j.ijcard.2018.02.050 -
Radiology Case Reports May 2023The heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism. Malformation of...
The heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism. Malformation of gastroenterologic system includes polysplenia (segmented spleen or multiple splenules), agenesis (partial or complete) of the dorsal pancreas and anomalous of the inferior vena cava implantation. Here, we describe and show the anatomy of a patient with left side inferior vena cava, situs ambiguous (complete common mesentery), polysplenia, and short pancreas. We also discuss about the embryologic process and the implications of these anomalies during gynecologic, digestive, and liver surgeries.
PubMed: 36895889
DOI: 10.1016/j.radcr.2023.02.005 -
Surgical and Radiologic Anatomy : SRA Jan 2018A thorough understanding of the anatomy, physiology, and development of the spleen is essential for determining the pathophysiological mechanisms underpinning splenic... (Review)
Review
A thorough understanding of the anatomy, physiology, and development of the spleen is essential for determining the pathophysiological mechanisms underpinning splenic diseases and congenital variations. The aim of this review is to briefly summarize current knowledge regarding the normal development of the spleen, and to provide an overview of clinically relevant congenital splenic variations. These include such variations as asplenia, polysplenia, hyposplenia, lobulation of spleen, accessory spleens, accessory splenic nodules, wandering spleen, splenogonadal and splenopancreatic fusion, splenic cysts, and cavernous haemangioma of the spleen. All of these congenital variations are also mentioned in internationally accepted embryological nomenclature, known as the Terminologia Embryologica. Interestingly, most patients who have these diseases are asymptomatic, and are often diagnosed only after an injury or during unrelated medical procedures. Using examples from published case reports, we highlight how an understanding of the embryology of the spleen and the etiology of its disease states would improve clinical practice.
Topics: Anatomic Variation; Humans; Lymphatic Abnormalities; Spleen; Terminology as Topic
PubMed: 28631052
DOI: 10.1007/s00276-017-1893-0 -
Annals of Hematology Jul 2022Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than...
Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than syndromic forms. The risk of severe bacterial infections associated with asplenia is the most concerning clinical implication and carries a significant mortality risk. Prophylactic measures against the clinical syndrome known as overwhelming postsplenectomy infections (OPSI) include vaccination, prophylactic and emergency antibiotics and health education including fever management and travel advice. This case series describes fourteen adults with congenital asplenia and polysplenia syndrome, most of whom were diagnosed incidentally as adults, and outlines the nature of their diagnosis, clinical phenotype, family history and key pathology findings.
Topics: Anti-Bacterial Agents; Humans; Splenic Diseases; Syndrome; Vaccination
PubMed: 35451619
DOI: 10.1007/s00277-022-04765-3 -
Journal of Cardiology Dec 2022The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with...
BACKGROUND
The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with congenital heart disease (ACHD patients). This network maintains the first Japanese ACHD registry.
METHODS AND RESULTS
From 2011 to 2019, the JNCVD-ACHD registered 54 institutions providing specialized care for ACHD patients in 32 of the 47 prefectures in Japan. The registry collected data on the disease profile for 24,048 patients from 50 institutions and the patient characteristics for 9743 patients from 24 institutions. The most common ACHDs were atrial septal defect (20.5 %), ventricular septal defect (20.5 %), tetralogy of Fallot (12.9 %), and univentricular heart (UVH)/single ventricle (SV; 6.6 %). ACHD patients without biventricular repair accounted for 37.0 % of the population. Also examined were the serious anatomical and/or pathophysiological disorders such as pulmonary arterial hypertension (3.0 %) including Eisenmenger syndrome (1.2 %), systemic right ventricle under biventricular circulation (sRV-2VC; 2.8 %), and Fontan physiology (6.0 %). The sRV-2VC cases comprised congenitally corrected transposition of the great arteries without anatomical repair (61.9 %) and transposition of the great arteries with atrial switching surgery (38.1 %). The primary etiology (86.4 %) for Fontan physiology was UVH/SV. In addition, developmental/chromosomal/genetic disorders were heterotaxy syndromes (asplenia, 0.9 %; polysplenia, 0.7 %), trisomy 21 (4.0 %), 22q11.2 deletion (0.9 %), Turner syndrome (0.2 %), and Marfan syndrome (1.1 %).
CONCLUSIONS
Although the specific management of ACHD has systematically progressed in Japan, this approach is still evolving. For ideal ACHD care, the prospective goals for the JNCVD-ACHD are to create local networks and provide a resource for multicenter clinical trials to support evidence-based practice.
Topics: Adult; Humans; Heart Defects, Congenital; Japan; Transposition of Great Vessels; Prospective Studies; Outpatients; Registries
PubMed: 35995687
DOI: 10.1016/j.jjcc.2022.07.019 -
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 -
Annals of Pediatric Cardiology Sep 2014Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS) has steadily improved. However, there is an insufficient appreciation of various... (Review)
Review
Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS) has steadily improved. However, there is an insufficient appreciation of various non-cardiac issues that might impact the overall status of these patients. This article briefly reviews the implications of gastrointestinal, immunologic, genitourinary, respiratory, and central nervous system involvement in HS patients with a view to aid in their comprehensive clinical management.
PubMed: 25298693
DOI: 10.4103/0974-2069.140834 -
Multimedia Manual of Cardiothoracic... 2014It is well recognized that the patients with the most complex cardiac malformations are those with so-called visceral heterotaxy. At present, it remains a fact that most...
It is well recognized that the patients with the most complex cardiac malformations are those with so-called visceral heterotaxy. At present, it remains a fact that most investigators segregate these patients on the basis of their splenic anatomy, describing syndromes of so-called asplenia and polysplenia. It has also been known for quite some time, nonetheless, that the morphology of the tracheobronchial tree is usually isomeric in the setting of heterotaxy. And it has been shown that the isomerism found in terms of bronchial arrangement correlates in a better fashion with the cardiac anatomy than does the presence of multiple spleens, or the absence of any splenic tissue. In this exercise in anatomy, we use hearts from the Idriss archive of Lurie Children's Hospital in Chicago to demonstrate the isomeric features found in the hearts obtained from patients known to have had heterotaxy. We first demonstrate the normal arrangements, showing how it is the extent of the pectinate muscles in the atrial appendages relative to the atrioventricular junctions that distinguishes between morphologically right and left atrial chambers. We also show the asymmetry of the normal bronchial tree, and the relationships of the first bronchial branches to the pulmonary arteries supplying the lower lobes of the lungs. We then demonstrate that diagnosis of multiple spleens requires the finding of splenic tissue on either side of the dorsal mesogastrium. Turning to hearts obtained from patients with heterotaxy, we illustrate isomeric right and left atrial appendages. We emphasize that it is only the appendages that are universally isomeric, but point out that other features support the notion of cardiac isomerism. We then show that description also requires a full account of veno-atrial connections, since these can seemingly be mirror-imaged when the arrangement within the heart is one of isomerism of the atrial appendages. We show how failure to recognize the presence of such isomeric appendages can lead to spurious diagnoses of discordant atrioventricular connections. Overall, we show that the finding of isomeric atrial appendages, guided by the finding of bronchial isomerism, is but the prelude to full segmental sequential analysis.
Topics: Atrial Appendage; Audiovisual Aids; Bronchi; Cardiology; Child; Databases as Topic; Heterotaxy Syndrome; Humans; Imaging, Three-Dimensional; Spleen
PubMed: 25547620
DOI: 10.1093/mmcts/mmu027