Complex Cardiovascular Malformations Research Articles

Successful one-stage surgical repair in a rare adult patient with berry syndrome.

Berry syndrome is a rare congenital cardiac malformation, herein we report an adult male patient who was successfully repaired by one-stage surgery. 18-year-old male patient presenting symptoms of chest tightness and shortness for over a year presented to outpatient clinic in our department to have corrective procedure heart. CTA revealed an Aortopulmonary Window (APW) type III, measuring 4.6 cm in maximum diameter. The right pulmonary artery originated from the ascending aorta, and the pulmonary trunk exhibited dilation with dimensions of 8.3 cm × 5.7 cm × 5.9 cm. Additional findings included Interrupted Aortic Arch (IAA) type A, intact ventricular septum, and Patent Ductus Arteriosus (PDA). Echocardiography showed bidirectional shunt at the level of APW in severe pulmonary hypertension. The right heart catheterization indicated a mean pulmonary artery pressure of 70mmHg and a pulmonary artery resistance of 5 Wood units. We evaluated after two weeks of treatment with epoprostenol at a rate of 20 ng/(kg. min) and found a significant improvement in pulmonary-artery pressure. Finally, we communicated with the patient's family and decided to proceed with the procedure. For complex cardiovascular malformations, the ideal treatment strategy must be tailored to the characteristics of the patient to provide maximum efficacy and safety.

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement [situs solitus (SS)] or mirror image inversion [situs inversus totalis (SIT)]. Research QuestionDo patients with PCD and SA have worse clinical outcomes compared to those with SS or SIT? Study Design and MethodsThis cross-sectional, multicenter study evaluated participants ≤21 years with PCD. Participants were classified as SA, including heterotaxy, or non-SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39/CCDC40 genotype, using generalized linear models, logistic and Poisson regression. ResultsIn 397 participants with PCD (mean age 8.4 years, range 0.1-21), 42 were classified as SA, including 16 (38%) with complex cardiovascular malformations (CVM) or atrial isomerism, 13 (31%) with simple CVM, and 13 (31%) without CVM. Of these, 15 (36%) underwent cardiac surgery, 24 (57%) had an anatomic spleen abnormality, and 7 (17%) had both. The remaining 355 participants were non-SA, including 152 with SIT and 203 with SS. Overall, 70 (17%) participants had the severe CCDC39/CCDC40 genotype. Compared to non-SA participants, those with SA had lower median body mass index Z-scores (p=0.03), lower forced vital capacity Z-scores (p=0.01), more hospitalizations and intravenous antibiotic courses for acute respiratory infections during the 5-years before enrollment (p<0.01). Participants with CVM requiring surgery or anatomic spleen abnormalities had lower median body mass index Z-scores and more hospitalizations and intravenous therapies for respiratory illnesses compared to non-SA participants. InterpretationChildren with PCD and SA have worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in SA participants with PCD are associated with CVM requiring cardiac surgery and/or splenic anomalies. ClinicalTrials.gov: NCT02389049, NCT00323167

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay

Only few copy number variants at chromosome 19p13.11 have been reported, thus associated clinical information is scarce. Proximal to these copy number losses, we now identified deletions in five unrelated individuals with neurodevelopmental disorders. They presented with psychomotor delay as well as behavioral and sleeping disorders, while complex cardiovascular, skeletal, and various other malformations were more variable. Dysmorphic features were rather unspecific and not considered as a recognizable gestalt.Neither of the analyzed parents carried their offsprings' deletions, indicating de novo occurrence. The deletion sizes ranged between 0.7 and 5.2 Mb, were located between 18 and 24 megabases from the telomere, and contained a variable number of protein-coding genes (n = 25–68). Although not all microdeletions shared a common region, the smallest common overlap of some of the deletions provided interesting insights in the chromosomal region 19p13.11p12. Diligent literature review using OMIM and Pubmed did not identify a satisfying candidate gene for neurodevelopmental disorders. In the literature, a de novo in-frame deletion in MAU2 was considered pathogenic in an individual with Cornelia de Lange syndrome. Therefore, the clinical differential diagnosis of this latter syndrome in one individual and the encompassment of MAU2 in three individuals' deletions suggest clinical and genetic overlap with this specific syndrome. Three of the four here reported individuals with deletion encompassing GDF1 had different congenital heart defects, suggesting that this gene's haploinsufficiency might contribute to the cardiovascular phenotype, however, with reduced penetrance.Our findings indicate an association of microdeletions at 19p13.11/ 19p13.11p12 with neurodevelopmental disorders, variable symptoms, and malformations, and delineate the phenotypic spectrum of deletions within this genomic region.

Diagnosis of Fetal Esophageal Atresia by Prenatal MRI and Analysis of Prognostic Factors

Objective To investigate the value of prenatal ultrasound and MRI in the diagnosis of types I and III fetal esophageal atresia (EA), in addition to analyzing the factors related to prognosis. Methods The clinical data regarding six cases of type I and 39 cases of type III EA, with the diagnosis confirmed by postnatal autopsy, MRI, CT, or surgical operation from November 2012 to January 2018, were retrospectively analyzed. Moreover, the prenatal ultrasound and MRI features were summarized. According to the prognosis, 45 fetuses with EA were divided into study (poor prognosis) and control (better prognosis) groups. Logistic regression was used to analyze the prognostic factors. Results The imaging features of 45 EA cases were as follows: Ultrasound features of fetal EA: polyhydramnios (AFI ≥ 25), continuously absent stomach bubble (rechecked 48 hours later), and reduced or no fetal swallowing over 30 minutes; the measured values for fetal head circumference (HC), abdominal circumference (AC), and estimated fetal weight (EFW) were lower than expected according to the clinical gestational age. MRI features: appearance of line-like long T1 and long T2 signals from the fetal neck to the esophagus at the upper mediastinal spinal anterior area; esophageal disconnection, sagging, or the appearance of a visible blind-ended pouch, and disappearance of the stomach bubble. Three cases (6.67%, 3/45) were diagnosed accurately by prenatal ultrasound, while 45 cases (100%, 45/45) were diagnosed accurately by MRI after prenatal ultrasound suggested EA. The incidences of complex cardiovascular malformation, low birth weight ( &lt; 1200 g), EA type (type I), hypoproteinemia, and an esophageal deletion length &gt; 5 cm were significantly higher in the poor prognosis group than those in the better prognosis group ( P &lt; 0 05). Conclusions Due to interference factors such as fetal movement, excessive skin thickness, skeleton, and surrounding tissues and organs, only 6.67% of types I and III EA were directly diagnosed by prenatal ultrasound in the present study. The risk factors for poor prognosis of EA were complex cardiovascular malformation, low birth weight, EA type, hypoproteinemia, and esophageal deletion length &gt; 5 cm; when these ultrasound features were found, performing MRI to diagnose EA and predict prognosis was valuable.

Diagnosis of Fetal Esophageal Atresia by Prenatal MRI and Analysis of Prognostic Factors

Objective To investigate the value of prenatal ultrasound and MRI in the diagnosis of types I and III fetal esophageal atresia (EA), in addition to analyzing the factors related to prognosis. Methods The clinical data regarding six cases of type I and 39 cases of type III EA, with the diagnosis confirmed by postnatal autopsy, MRI, CT, or surgical operation from November 2012 to January 2018, were retrospectively analyzed. Moreover, the prenatal ultrasound and MRI features were summarized. According to the prognosis, 45 fetuses with EA were divided into study (poor prognosis) and control (better prognosis) groups. Logistic regression was used to analyze the prognostic factors. Results The imaging features of 45 EA cases were as follows: Ultrasound features of fetal EA: polyhydramnios (AFI ≥ 25), continuously absent stomach bubble (rechecked 48 hours later), and reduced or no fetal swallowing over 30 minutes; the measured values for fetal head circumference (HC), abdominal circumference (AC), and estimated fetal weight (EFW) were lower than expected according to the clinical gestational age. MRI features: appearance of line-like long T1 and long T2 signals from the fetal neck to the esophagus at the upper mediastinal spinal anterior area; esophageal disconnection, sagging, or the appearance of a visible blind-ended pouch, and disappearance of the stomach bubble. Three cases (6.67%, 3/45) were diagnosed accurately by prenatal ultrasound, while 45 cases (100%, 45/45) were diagnosed accurately by MRI after prenatal ultrasound suggested EA. The incidences of complex cardiovascular malformation, low birth weight ( &lt; 1200 g), EA type (type I), hypoproteinemia, and an esophageal deletion length &gt; 5 cm were significantly higher in the poor prognosis group than those in the better prognosis group ( P &lt; 0 05). Conclusions Due to interference factors such as fetal movement, excessive skin thickness, skeleton, and surrounding tissues and organs, only 6.67% of types I and III EA were directly diagnosed by prenatal ultrasound in the present study. The risk factors for poor prognosis of EA were complex cardiovascular malformation, low birth weight, EA type, hypoproteinemia, and esophageal deletion length &gt; 5 cm; when these ultrasound features were found, performing MRI to diagnose EA and predict prognosis was valuable.

VP16.12: Left atrial isomerism with complex cardiovascular malformation on prenatal ultrasound and vascular casting

VP16.12: Left atrial isomerism with complex cardiovascular malformation on prenatal ultrasound and vascular casting

Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations.

Cilia are cell membrane-bound organelles responsible for airway mucus clearance, establishment of left-right organ asymmetry, cardiogenesis, and many other functions in utero. Phenotypic features suggestive of respiratory ciliary dyskinesia among patients with heterotaxy syndrome, defined as complex cardiovascular malformations (CVM) and situs ambiguus (SA), has not been adequately explored. We hypothesized that there is a greater incidence of phenotypic features consistent with ciliary dyskinesia among patients with heterotaxy syndrome compared to patients with other CVM and laterality defects without heterotaxy syndrome. Thirty six subjects were identified by medical record search and divided into four groups based on situs status and type of CVM as follows: SA and complex CVM (group 1); SA and simple CVM (group 2); situs solitus and complex CVM (group 3); and situs solitus and simple CVM (group 4). Phenotype was assessed with a clinical questionnaire, nasal nitric oxide (NO) level, and pulmonary function testing. Those with complex CVM underwent additional testing for variants in genes involved in ciliary structure and function. The mean nasal NO level was significantly lower among all subjects with complex CVM regardless of situs anomalies (groups 1 and 3). There was no significant difference in respiratory symptoms or lung function among the four groups. No bi-allelic genetic mutations were detected among patients with complex CVM. This study identified a relatively lower mean nasal NO level, suggestive of relative ciliary dyskinesia, among subjects with complex CVM. Pulmonary function and clinical symptoms did not reflect significant pulmonary disease among those with complex CVM.

Characterisation of computed tomography angiography findings in paediatric patients with heterotaxy.

Heterotaxy refers to the abnormal arrangement of organs across the left-right axis and is typically associated with complex cardiovascular malformations. To characterise the range of cardiac and extracardiac CT angiography findings in children with heterotaxy using the latest nomenclature consensus and to compare the different types of isomerism. We retrospectively analysed the data of 64 consecutive paediatric patients referred to our tertiary paediatric cardiovascular centre who underwent CT angiography for the evaluation of known or suspected heterotaxy within a 52-month period. Right atrial isomerism was identified in 44 (69%) children, while left atrial isomerism was identified in 18 (28%) children. Atrial appendage anatomy and situs could not be determined in 2 children (3%). Associated heart defects included complete atrioventricular canal (CAVC) in 51 (80%) children, total anomalous pulmonary venous return in 43 (67%) and pulmonary atresia in 23 (36%). The bronchial branching pattern corresponded to atrial appendage morphology in all children except in the two in whom atrial appendage morphology could not be defined. In children with right atrial isomerism, the most common associated abnormalities were CAVC (n=41, 93%) and asplenia (n=34, 77%), while in those with left atrial isomerism, the most common associated abnormalities were polysplenia (n=17, 94%) and an interrupted inferior vena cava with azygos continuation (n=15, 83%). CT angiography provides useful cardiovascular and extracardiac data on heterotaxy, which frequently involves a pattern of side-related findings but has great anatomical variability.

Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis.

ABSTRACTDevelopmental defects affecting the heart and aortic arch arteries are a significant phenotype observed in individuals with 22q11 deletion syndrome and are caused by a microdeletion on chromosome 22q11. TBX1, one of the deleted genes, is expressed throughout the pharyngeal arches and is considered a key gene, when mutated, for the arch artery defects. Pax9 is expressed in the pharyngeal endoderm and is downregulated in Tbx1 mutant mice. We show here that Pax9-deficient mice are born with complex cardiovascular malformations that affect the outflow tract and aortic arch arteries with failure of the 3rd and 4th pharyngeal arch arteries to form correctly. Transcriptome analysis indicated that Pax9 and Tbx1 may function together, and mice double heterozygous for Tbx1/Pax9 presented with a significantly increased incidence of interrupted aortic arch when compared with Tbx1 heterozygous mice. Using a novel Pax9Cre allele, we demonstrated that the site of this Tbx1-Pax9 genetic interaction is the pharyngeal endoderm, therefore revealing that a Tbx1-Pax9-controlled signalling mechanism emanating from the pharyngeal endoderm is required for crucial tissue interactions during normal morphogenesis of the pharyngeal arch artery system.

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Objective of the studyTo give a full overview of the clinical presentation of PTEN mutations in pediatric patients and to propose a pediatric follow-up protocol. MethodsRecruitment of 16 PTEN mutated children (age 6 months-11 years) from two pediatric centers in Milan (Italy) between 2006 and 2017. All the patients underwent clinical and neurologic evaluations, cognitive and behavioral tests, and brain MRI; they are currently following an oncologic follow-up. ResultsExtreme macrocephaly is present in all the patients (69% HC above +4 SD). Neuropsychiatric issues have high prevalence, with 56% of patients showing developmental delay and 25% showing autism spectrum disorder. Brain MRI reveals in 75% of the patients at least one of the following: enlarged perivascular spaces, white matter anomalies, and/or downward displacement of the cerebellar tonsils through the foramen magnum, resulting in Chiari I malformation in two patients. Vascular malformations have a prevalence of 19%, with further evidence that complex cardiovascular malformations may be related to PTEN mutations; 31% of patients present hamartomas. None of our patients have so far experienced any oncologic complication. ConclusionsWe suggest to screen for PTEN mutations all children presenting macrocephaly and one of the following: neurodevelopmental issues, one of the three major brain MRI anomalies, cutaneous lesions, vascular malformations, family history positive for PTEN related malignancies; or also with macrocephaly alone when exceeding +3 SD. Basing on our cohort results and further recent studies on the condition, we recommend a follow-up protocol that includes annual clinical and dermatological examination, thyroid and abdominal US, and Fecal Occult Blood test plus neurodevelopmental evaluation, heart US (to exclude congenital heart malformations), and brain MRI (to exclude Chiari I malformation) at diagnosis.

Virtual 3D Modeling of Airways in Congenital Heart Defects.

The involvement of the airway is not uncommon in the presence of complex cardiovascular malformations. In these cases, a careful inspection of the relationship between the airway and the vasculature is paramount to plan the surgical procedure. Three-dimensional printing enhanced the visualization of the cardiovascular structure. Unfortunately, IT does not allow to remove selected anatomy to improve the visualization of the surrounding ones. Computerized modeling has the potential to fill this gap by allowing a dynamic handling of different anatomies, increasing the exposure of vessels or bronchi to show their relationship. We started to use this technique to plan the surgical repair in these complex cases where the airway is affected. This technique is routinely used in our Institution as an additional tool in the presurgical assessment. We report four cases in which the airways were compressed by vascular structures – ascending aorta in one, left pulmonary artery sling in one, patent ductus arteriosus in one, and major aorto-pulmonary collateral artery in one. We believe this technique can enhance the understanding of the causes of airway involvement and facilitate the creation of an appropriate surgical plan.

Cardiac and vascular malformations

Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality.

Staged Surgical Repair of Truncus Arteriosus Communis in Critically Ill Neonates with Complex Congenital Malformations

Objective: The presence of complex congenital malformations in patients with truncus arteriosus communis (TAC) increases the mortality and morbidity of the required neonatal repair. This report describes neonates with TAC and other complex malformations who underwent a staged repair. Method: 3 neonates underwent a staged TAC repair, involving an initial RV-PA valveless conduit and either aortic or pulmonary artery reconstruction followed by an intracardiac repair later in infancy. Results: There was no hospital death. 2 patients (cases 1 and 2) have proceeded to a biventricular repair, which consisted of VSD closure, takedown of the initial RV-PA conduit, and placement of a valved RV-PA conduit. A PA patch plasty was necessary in case 1. After their 2nd surgery, both patients were discharged from the hospital in excellent condition and are currently clinically stable. Patient 3 is awaiting further surgery under a stable condition. At the last follow up (range 3 months to 3 years), no re-do surgeries related to the aortic arch or truncal valve were required among survivors, no progressive truncal valve regurgitation was observed. Late pulmonary artery intervention with balloon dilatation and stent placement was required in case 1. Conclusion: In patients with TAC, complete primary repair is preferred in our institution. In critically ill neonates and in the presence of complex cardiovascular malformation however, the complexities and the time-consuming surgery could be associated with a higher mortality. In these cases, a staged TAC repair shortens the myocardial ischemic and bypass time at initial surgery. Providing an unobstructed systemic outflow is essential to prevent the development of truncal valve regurgitation and congestive heart failure. Although not seen in this series, leaving a VSD along with a valveless RV-PA-conduit might cause RV volume overload.

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome

Heterotaxy syndrome is a clinically and genetically heterogeneous rare disorder included in the group of congenital heart diseases (CHD). The word heterotaxy comes from the Greek “heteros”, meaning “different”; and “taxis”, meaning “arrangement”. The thoracic and visceral organs (including the heart, liver, lungs, spleen, and stomach) have an abnormal placement, as they are situated randomly with respect to the left-right axis and with respect to one another [20]. The inheritance pattern of the disease is heterogeneous, as it could be autosomal recessive, autosomal dominant or X-linked. At least six different disease-causing genes have been identified [3, 13, 20] and one novel candidate has been determined [15]. Mutations in the zinc finger transcription factor gene (ZIC3, MIM *300265) cause the X-linked heterotaxy syndrome (OMIM #306955) [7], which accounts for less than 5 % of sporadic heterotaxy cases. Female carriers in the reported familial cases are usually asymptomatic, although in one case they presented phenotype [20]. The estimated prevalence is unclear, ranging from 2.5/10000 to 1/15000 (from Orphanet reports series, November 2012) [14]. Affected patients present high morbidity and mortality resulting from a wide variety of congenital defects, as they typically present complex cardiovascular malformations. Clinical diagnosis and surgical treatment for patients have improved recently. However, survival rates of patients undergoing surgery are not satisfactory. In this context, preimplantation genetic diagnosis (PGD) has been proved over the years to be a valid reproductive option for couples carrying a genetic disorder who wish to have offspring free of the disease, avoiding the traumatic termination of pregnancy (TOP). Since its first application in 1990 [8], PGD has been made available for a large number of rare genetic disorders [16] and the number of cycles continuously increases year by year [9]. The aim of this paper is to show, for the first time, the successful application of PGD for X-linked heterotaxy, resulting in the birth of a healthy boy.

Genetic basis of human left-right asymmetry disorders.

Humans and other vertebrates exhibit left-right (LR) asymmetric arrangement of the internal organs, and failure to establish normal LR asymmetry leads to internal laterality disorders, including situs inversus and heterotaxy. Situs inversus is complete mirror-imaged arrangement of the internal organs along LR axis, whereas heterotaxy is abnormal arrangement of the internal thoraco-abdominal organs across LR axis of the body, most of which are associated with complex cardiovascular malformations. Both disorders are genetically heterogeneous with reduced penetrance, presumably because of monogenic, polygenic or multifactorial causes. Research in genetics of LR asymmetry disorders has been extremely prolific over the past 17 years, and a series of loci and disease genes involved in situs inversus and heterotaxy have been described. The review highlights the classification, chromosomal abnormalities, pathogenic genes and the possible mechanism of human LR asymmetry disorders.

Incremental value of color coding in 3D volume rendered CT images for interpretation of complex cardiothoracic vascular malformations

ObjectivesTo evaluate the benefit of color coding of CT angiography images for the assessment of complex cardiovascular malformations by comparing the quality of 3D (dimensional) volume rendered (VR) images before and after vessel color coding. MethodsCardiothoracic CT images of 34 patients with complex vascular malformations were retrospectively selected for post processing. 3D VR images were created without and after color coding of the target vessels. Source images as well as selected 3D VR images without and with color coding were reviewed independently by 4 observers and scores were recorded on a 4-point scale for overall image quality, visualization conspicuity of target vessels, and final interpretation of target structures. ResultsOverall diagnostic advantages of color coded VR images compared with non-color coded VR images included; improved visualization of the anatomical course of vessels, improved visualization of the extent of abnormality, better understanding of the spatial relationship of structures (i.e. to right ventricle outflow tract), and improved overall quality of the images. For all comparisons the color coded score was statistically significantly better than the non-color coded score (p<0.0001). A trend showed that review speed was faster for color coded images (p=0.06). Good inter-observer agreement was achieved for the target conspicuity and final interpretation scores with weighted Kappa score of 0.66 (95% CI: 0.54, 0.79) and 0.71 (95% CI: 0.60, 0.81) respectively. ConclusionColor coded 3D VR images can optimize visualization of vascular structures and improve interpretation of complex vascular malformation in cardiothoracic CT studies.

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Specific association of missense mutations in <i>CRELD1</i> with cardiac atrioventricular septal defects in heterotaxy syndrome

Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed a heart defect, pleural effusion, clubbed feet, and absent right kidney. Clinical cytogenetic analysis of amniocytes identified a marker chromosome present in 10 out of 15 cells analyzed. Clinical evaluation of the neonate revealed distinct facial features, complex heart defects, solitary left kidney, and arachnodactyly. Chromosome analysis of lymphocytes demonstrated an abnormal male karyotype with a marker chromosome present in all 24 cells examined. To identify the marker chromosome, SNP microarray analysis was performed which detected the presence of a two copy gain of 17.7 Mb of DNA from the distal long arm of chromosome 15 (15q25.2-qter). FISH analysis using a probe specific to the 15q26.3 region showed one signal on each normal 15q and two signals, one on each arm of the marker chromosome resulting in four copies. Distal tetrasomy 15q is rare. Only 11 cases have been described in the literature, all due to a supernumerary analphoid marker chromosome consisting of an inverted duplication of the distal long arm of chromosome 15. We report on a unique patient with tetrasomy 15q with complex cardiovascular malformation (CVM) involving progressive diffuse pulmonary vein stenosis (PVS). We propose overexpression of three genes, ADAMTSL3, MESP1, and MESP2 as a potential mechanism for cardiac and vessel malformations associated with tetrasomy 15q. Finally, we believe cardiac defects with this genetic syndrome are a poor prognostic finding associated with high mortality.

Diagnosis the fetal asplenia syndrome by prenatal ultrasound

Objective To explore the ultrasonographic manifestations of the fetal with asplenia syndrome. Methods At 21751 cases of fetal systemic ultrasound examination during 20-40 weeks, 4 cases with asplenia syndrome were diagnosed. and the ultrasonographic manifestations of the 4 cases were analyzed retrospectively. Results The ultrasonographic features of fetal asplenia syndrome;①with complex and serious cardiovascular malformation; ②visceral transposition; ③ absence of spleen. Conclusions When the complex cardiovascular malformations were found by prenatal ultrasound,the position of fetal spleen and internal organs in order to early diagnosis of fetal asplenia syndrome. Key words: Ultrasonography,prenatal; Heart defects; Asplenia syndrome

The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy

In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group. The Nomenclature Working Group created the International Paediatric and Congenital Cardiac Code, which is available for free download from the internet at [http://www.IPCCC.NET]. In previous publications from the Nomenclature Working Group, unity has been produced by cross-mapping separate systems for coding, as for example in the treatment of the functionally univentricular heart, hypoplastic left heart syndrome, or congenitally corrected transposition. In this manuscript, we review the nomenclature, definition, and classification of heterotaxy, also known as the heterotaxy syndrome, placing special emphasis on the philosophical approach taken by both the Bostonian school of segmental notation developed from the teachings of Van Praagh, and the European school of sequential segmental analysis. The Nomenclature Working Group offers the following definition for the term "heterotaxy": "Heterotaxy is synonymous with 'visceral heterotaxy' and 'heterotaxy syndrome'. Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as 'situs solitus', nor patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as 'situs inversus'." "Situs ambiguus is defined as an abnormality in which there are components of situs solitus and situs inversus in the same person. Situs ambiguus, therefore, can be considered to be present when the thoracic and abdominal organs are positioned in such a way with respect to each other as to be not clearly lateralised and thus have neither the usual, or normal, nor the mirror-imaged arrangements."The heterotaxy syndrome as thus defined is typically associated with complex cardiovascular malformations. Proper description of the heart in patients with this syndrome requires complete description of both the cardiac relations and the junctional connections of the cardiac segments, with documentation of the arrangement of the atrial appendages, the ventricular topology, the nature of the unions of the segments across the atrioventricular and the ventriculoarterial junctions, the infundibular morphologies, and the relationships of the arterial trunks in space. The position of the heart in the chest, and the orientation of the cardiac apex, must also be described separately. Particular attention is required for the venoatrial connections, since these are so often abnormal. The malformations within the heart are then analysed and described separately as for any patient with suspected congenital cardiac disease. The relationship and arrangement of the remaining thoraco-abdominal organs, including the spleen, the lungs, and the intestines, also must be described separately, because, although common patterns of association have been identified, there are frequent exceptions to these common patterns. One of the clinically important implications of heterotaxy syndrome is that splenic abnormalities are common. Investigation of any patient with the cardiac findings associated with heterotaxy, therefore, should include analysis of splenic morphology. The less than perfect association between the state of the spleen and the form of heart disease implies that splenic morphology should be investigated in all forms of heterotaxy, regardless of the type of cardiac disease. The splenic morphology should not be used to stratify the form of disease within the heart, and the form of cardiac disease should not be used to stratify the state of the spleen. Intestinal malrotation is another frequently associated lesion that must be considered. Some advocate that all patients with heterotaxy, especially those with isomerism of the right atrial appendages or asplenia syndrome, should have a barium study to evaluate for intestinal malrotation, given the associated potential morbidity. The cardiac anatomy and associated cardiac malformations, as well as the relationship and arrangement of the remaining thoraco-abdominal organs, must be described separately. It is only by utilizing this stepwise and logical progression of analysis that it becomes possible to describe correctly, and to classify properly, patients with heterotaxy.