Septal Anomalies Research Articles

Congenital heart defects in the recurrent 2q13 deletion syndrome

The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial anomalies. Congenital heart defects (CHDs) are the most frequent malformations associated with del2q13. Experimental studies in zebrafish suggest that two genes mapping within the 2q13 critical region (FBLN7 and TMEM87B) could confer susceptibility to congenital heart defects in affected individuals. We reviewed the cardiac characteristics in four patients with 2q13 deletion admitted to our hospitals, and in published patients. Two of our patients had congenital heart defects, consisting in partial anomalous pulmonary venous connection, ostium secundum atrial septal defect ostium secundum, and small muscular ventricular septal defect in one of them, and aortic valve insufficiency with partial fusion of two commissures (incomplete bicuspid aortic valve) and mitral valve insufficiency due to trivial mitral valve prolapse in the other. The anatomic types of CHD in del2q13 syndrome are highly variable and distributed widely, including laterality defects, complex atrioventricular septal defect, septal anomalies, and cardiomyopathies. Cardiac evaluation should be part of the clinical workup at diagnosis of 2q13 deletion.

CT of cardiac and extracardiac vascular anomalies: embryological implications

BackgroundCongenital heart disease (CHD) is the most common neonatal anomaly. Extracardiac findings are commonly associated with CHD. It is mandatory to evaluate extracardiac structures for potential associated abnormalities that might impact the surgical planning for these patients. The purpose of this study was to determine the extracardiac abnormalities that could associate cardiac anomalies and to give insights into their embryological aberrations.ResultsThirty-two pediatric patients (22 males and 10 females) underwent CT angiography to assess CHD. Diagnosis of the CHD and associated extracardiac findings were recorded and tabulated by organ system and type of CHD. Retrospective ECG-gated low-peak kilovoltage (80Kvp) technique was used on 128MDCT GE machine. Patients were diagnosed according to their CHD into four groups: chamber anomalies 90%, septal anomalies 81.3%, conotruncal anomalies 59.4%, and valvular anomalies 59.4%. Extracardiac findings were found in 28 patients (87.5%) with a total of 76 findings. Vascular findings were the most prevalent as 50 vascular findings were observed in 28 patients. Aortic anomalies were the commonest vascular anomalies. Fourteen thoracic findings were observed in 12 patients; of them lung consolidation patches were the most common and 12 abdominal findings were found in seven patients, most of findings were related to situs abnormalities.ConclusionExtracardiac abnormalities especially vascular anomalies are commonly associating CHD. Along with genetic basis, aberrations in dynamics of blood flow could represent possible causes of this association.

Who Should Rather Undergo Transesophageal Echocardiography to Determine Stroke Etiology: Young or Elderly Stroke Patients?

Introduction: The indication of transesophageal echocardiography (TEE) in acute stroke is unclear. Thus, we systematically studied the impact of TEE on determining stroke etiology and secondary prevention in patients of different age-groups with cryptogenic stroke.Methods: Four hundred and eighty five consecutive patients with acute retinal or cerebral ischemia were prospectively included and underwent routine stroke workup including TEE. Stroke etiology was identified according to the TOAST classification and patients were divided in those with determined and cryptogenic stroke etiology without TEE results. Then, the frequency of high- and potential-risk sources in TEE was evaluated in <55, 55–74, and ≥75 year-old patients with cryptogenic stroke etiology.Results: Without TEE, stroke etiology was cryptogenic in 329(67.8%) patients and TEE determined possible etiology in 158(48.4%) of them. In patients aged <55, 55–74, ≥75, TEE detected aortic arch plaques ≥4 mm thickness in 2(1.2%), 37(23.0%), and 33(40.2%) and plaques with superimposed thrombi in 0(0.0%), 5(3.1%), and 7(8.5%); left atrial appendage peak emptying flow velocity ≤30cm/s in 0(0.0%), 1(0.6%), and 2(2.4%), spontaneous echo contrast in 0(0.0%), 1(0.6%), and 6(7.3%), endocarditis in 0(0.0%), 0(0.0%), and 1(1.2%) and patent foramen ovale (PFO) plus atrial septum aneurysm (ASA) in 18(20.9%), 32(19.9%), and 14(17.1%), respectively. TEE changed secondary prevention in 16.4% of these patients following guidelines of 2010/11 and still 9.4% when applying the guidelines of 2020.Conclusions: TEE was highly valuable for determining stroke etiology and influenced individual secondary prevention based on available treatment guidelines and expert opinion in most cases. In young patients the impact of TEE was limited to the detection of septal anomalies. By contrast, in older patients TEE detected high numbers of complex aortic atheroma and potential indicators of paroxysmal atrial fibrillation.

MP65-12 MURINE RBFOX-2 HAPLOINSUFFICIENCY PARALLELS CONGENITAL ANOMALIES IN HUMAN PATIENTS WITH RBFOX-2 COPY NUMBER VARIANTS

You have accessJournal of UrologyPediatrics: Hypospadias and Penile Surgery (MP65)1 Apr 2020MP65-12 MURINE RBFOX-2 HAPLOINSUFFICIENCY PARALLELS CONGENITAL ANOMALIES IN HUMAN PATIENTS WITH RBFOX-2 COPY NUMBER VARIANTS Jeffrey White, Marisol O'Neill, Kunj Sheth, and Dolores Lamb* Jeffrey WhiteJeffrey White More articles by this author , Marisol O'NeillMarisol O'Neill More articles by this author , Kunj ShethKunj Sheth More articles by this author , and Dolores Lamb*Dolores Lamb* More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000940.11AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Copy number variants (CNVs) are micro-deletions or micro-duplications of a chromosome. When these occur in a dosage-sensitive gene, birth defects can develop. Hypospadias is a common, externally identifiable genitourinary birth defect. We hypothesized that, through a top-down approach utilizing CNVs from patients with hypospadias, novel genes in penile development can be discovered. METHODS: By searching CNV databases for hypospadias, candidate genes were identified. Four hypospadic patients had CNVs in the RNA binding FOX 2 (RBFOX-2) gene. TaqMan CNV assays identified the incidence of RBFOX-2 CNVs. By crossing Gdf9-Cre mice with conditional Rbfox-2-Flox mice, Rbfox-2Δ/+ mice (single copy deletion of Rbfox-2) were analyzed using microCT. Gene expression analyses were performed with in vitro and in vivo models. RESULTS: Seventeen patients with RBFOX-2 CNVs were identified in DECIPHER: 4 had hypospadias, 8 had intellectual disabilities, 7 had CNS anomalies, 7 had cardiac defects, and 3 had facial deformities. Though RBFOX-2 CNVs are not common in population-level database (Database of Genomic Variants, 0.11%, n=42,511, p=0.3), samples from patients with GU birth defects identified 11 (2.4%, n=450) with CNVs for RBFOX-2: 21% with hypospadias, 21% cryptorchidism, 29% vesicoureteral reflux and 29% ureteropelvic junction obstruction. When compared with controls (0.0%, n=64), an enrichment of RBFOX-2 CNVs was discovered in GU birth defect patients (p<0.01). A murine model of Rbfox-2 haploinsufficiency was analyzed at E14.5, E16.5 and E18.5. MicroCT was performed to assay for phenotypes. Head defects (hydrocephalus, branchial arch defects and facial asymmetry), chest anomalies (asymmetric cardiac hypertrophy and septal anomalies), abdominal phenotypes (bile duct anomalies and omphalocele), spinal anomalies (neural tube defects), kidney phenotypes (hydroureteronephrosis), and genital tubercle (GT) anomalies (hypospadias) were discovered. Through in vitro and in vivo studies, RBFOX-2 was discovered to have a role in FGFR2 splicing in penile development. CONCLUSIONS: RBFOX-2 gene dosage changes are enriched in patients with GU birth defects but several other organ systems may also be affected. Murine models of Rbfox-2 haploinsufficiency parallel anomalies of humans with RBFOX-2 CNVs. Our data suggest that RBFOX-2 regulates mesenchyme-to-epithelial transitions in the penis and may play a role in basic developmental programs which regulate many organ systems. Source of Funding: This project was supported by the Urology Care Foundation Research Scholar Award funded by the Society of Pediatric Urology and the Sushil Lacy, MD Foundation as well as NIH R01DK078121 © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e978-e978 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Jeffrey White More articles by this author Marisol O'Neill More articles by this author Kunj Sheth More articles by this author Dolores Lamb* More articles by this author Expand All Advertisement PDF downloadLoading ...

P879 3D transoesophageal echocardiography to asses a case of a non-ebstein tricuspid valve congenital regurgitation

Abstract Introduction Due to the complexity of congenital heart disease and limitations of transthorathic echocardiogram (TTE), especially in adult patients, it is not unusual to need other image techniques to assess cardiac anatomy and function. The most common primary anomaly of tricuspid valve (TV) is Ebstein anomaly, but there are other much rarer primary anomalies of this valve consisting in prolapse, cord retraction.... without downward displacement of the leaflet, generally causing tricuspid regurgitation (TR) that can be severe and sometimes intervention is needed, preferably reparation. Due to anatomical issues, it is difficult to assess anatomy of TV in TTE, so sometimes 3D-TTE must be performed to clarify the mechanism and to measure orifice, but when transthoracic view is not enough, 3D transoesophageal echocardiogram (TOE) can be useful for this purpose. Case We report the case of a 15-year-old boy that was referred to our clinic because of shortness of breath and a systolic tricuspid murmur. TTE was performed and an image compatible with tricuspid valve prolapse with no apical displacement of any leaflets (Figure, A) causing severe TR (Figure, B) was noticed, as well as severely dilated right chambers, with good ejection fraction of both ventricles. It was not clear the mechanism so 2D TOE was done, showing a prolapse of a leaflet (Figure, C) causing severe TR (Figure, D). The mechanism was finally clarified by 3D TOE (figure E). This was a prolapse of lateral portion of posterior leaflet (asterisk) with restrictive movement of anterior (triangle) and septal (arrow) ones, causing a huge coaptation defect in systole leading to a very severe tricuspid insufficiency with signs of volume overload of right ventricle. There was no atrial septal defect and pulmonary drainage anomalies were ruled out by cardiac magnetic resonance. Patient was referred to surgery due to symptoms and great dilatation of right chambers. Conclusión: Due to anatomical complexity and limitations of echography, cross and multimodality cardiac imaging is usually needed in assessing congenital heart disease. Apart from Ebstein anomaly, other congenital entities of tricuspid valve such as prolapse and/or retraction can lead to severe tricuspid regurgitation. Due to limitations of 2D TTE in assessing tricuspid valve anatomy, 3D TTE has to be performed, but if it is not enough, 3D TOE can be an option to evaluate mechanism and directly see the orifice of regurgitation in congenital disease of tricuspid valve. Abstract P879 Figure

Preoperative Tracheoscopy for Esophageal Atresia and/or Congenital Esoaerian Fistula: Experience at Cliniques Universitaires Saint Luc in Brussels

Introduction: Congenital septal anomalies between the trachea and the esophagus are rare conditions. It seemed to us interesting to recall the contribution of tracheoscopy in the diagnostic and therapeutic strategy of esophageal atresia and congenital esoaerian fistulas. Patients and methods: This is a retrospective study between June 1994 and June 2014 of children who underwent a tracheoscopy, at the Saint-Luc University Clinics in Brussels, the diagnostic set of esophageal atresia (EA) or a congenital esoaerian fistula was suspected. Results: A total of 43 children with esophageal atresia or congenital esoaerian fistula underwent tracheoscopy. Before the tracheoscopy, the diagnosis of the anatomical type of atresia of the esophagus and esoaerian fistula was as follows: type C, 34 (79.1%); type A, 4 (9.3%); type E, 5 (11.6%). After performing the tracheoscopy, the diagnosis was changed as follows: type C, 34 (79.1%); type A, 3 (7%); type E, 4 (9.3%); type B, 1 (2.3%), a patient with a tracheoesophageal laryngo cleft (2.3%). Tracheoscopy also made it possible to find 2 cases of tracheomalacia, 2 cases with 3 bronchial tubes and one case associating a diverticulum of the trachea. No complications were correlated with the performance of the tracheoscopy. Conclusion: Our study confirms the benefits of tracheoscopy in the laden price of esophageal atresia or congenital esoaerian fistula.

Septal aplasia with unilateral cleft lip and palate: A new entity or a variation of the binderoid cleft?

Congenital septal abnormalities are rare. Septal agenesis in isolation has been described in the literature with scant reports of similar septal anomalies, all of which have presented in adulthood with a request for reconstruction. Mulliken described a rare subset of children with cleft lip and palate associated with nasolabiomaxillary hypoplasia. Although some of these cases were similar to ours, none of the described cases were associated with septal aplasia. We report two cases of septal aplasia in combination with a right unilateral cleft of the lip and palate in two babies

Fetal midline anomalies: Diagnosis and counselling part 2: Septal anomalies.

Fetal midline anomalies: Diagnosis and counselling part 2: Septal anomalies.

Management of neonates with ventricular septal defects and aortic arch anomalies

Management of neonates with ventricular septal defects and aortic arch anomalies

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Holt-Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box transcription factor, are responsible for the development of Holt-Oram syndrome, but such mutations are variably detected in 30-75% of patients. Clinically diagnosed eight Holt-Oram syndrome patients from six families were evaluated the clinical characteristics, focusing on the cardiac manifestations, in particular, and molecular aetiologies. In addition to the investigation of the mutation of TBX5, SALL4, NKX2.5, and GATA4 genes, which are known to regulate cardiac development by physically and functionally interacting with TBX5, were also analyzed. Multiple ligation-dependent probe amplification analysis was performed to detect exonic deletion and duplication mutations in these genes. All included patients showed cardiac septal defects and upper-limb anomalies. Of the eight patients, seven underwent cardiac surgery, and four suffered from conduction abnormalities such as severe sinus bradycardia and complete atrioventricular block. Although our patients showed typical clinical findings of Holt-Oram syndrome, only three distinct TBX5 mutations were detected in three families: one nonsense, one splicing, and one missense mutation. No new mutations were identified by testing SALL4, NKX2.5, and GATA4 genes. All Holt-Oram syndrome patients in this study showed cardiac septal anomalies. Half of them showed TBX5 gene mutations. To understand the genetic causes for inherited CHD such as Holt-Oram syndrome is helpful to take care of the patients and their families. Further efforts with large-scale genomic research are required to identify genes responsible for cardiac manifestations or genotype-phenotype relation in Holt-Oram syndrome.

Abstract 18759: Benefit of TEE in Patients Over 50 with Unexplained Stroke and Normal TTE Study

Objective: Aside from oral anticoagulation in patients with intracardiac thrombus, current guidelines and scientific evidence do not support specific therapeutic interventions for most other TEE findings. We sought to examine the effect of performing TEE on therapeutic management in patients over age 50 with unexplained stroke. Specific TEE findings sought to explain the cause of stroke generally include cardiac thrombi (particularly LA and LAA) or spontaneous contrast, inter atrial septal anomalies (particularly PFO), and atheromatous disease of the aorta. We hypothesized that there would be minimal incremental value in performing TEE added to a normal TTE study. Methods: We retrospectively analyzed consecutive patients over 50 yrs who underwent TEE for unexplained stroke. Patients in sinus rhythm were included if TTE results were normal. Normal TTE was defined as normal LVEF, no intracardiac masses or shunts, absence of severe valvular heart disease. Results: TEE images and clinical data of 263 patients were analyzed. Baseline characteristics included mean age of 66.7 yrs, (range 50-91 yrs), 42.5% were female. TEE findings demonstrated complex plaque of the ascending aorta or arch in 44/263 (16.7%). PFO was found in 18/263(%), 25/263(%) had atrial spetal aneurysm (ASA), and 11/263(%) had both ASA and PFO. Spontaneous contrast was seen in 13/263 (4.9%). 1 patient had LA thrombus. Overall 38% had a TEE finding which could explain the etiology of stroke but 1/263 (0.4%) had a finding which changed therapy based on current guidelines or substantial scientific evidence. 6 months follow up was available on 85 patients, and 13(15%) of these patients developed new PAF. Conclusions: Our study demonstrates no incremental value of TEE to a normal TTE study in patients over 50 with unexplained stroke in sinus rhythm. As reported in prior studies, it is not uncommon for TEE to disclose findings such as aortic atheroma or interatrial septal anomalies, however these findings generally do not alter therapeutic management and therefore routine performance of TEE in these patients may not be justified. It needs to be determined whether subsequent PAF episodes were etiology or result of stroke.

Cardiac findings in routine fetal autopsies: more than meets the eye?

The main objective of this study was to evaluate the spectrum of cardiac anomalies found in routinely performed fetal autopsies and to establish the correlation between prenatal and postmortem diagnosis. A retrospective study of fetal autopsies was performed. Cases with cardiac anomalies were analyzed. Seven main categories were established and each case was assigned to a single group. Cardiac defects were also classified as isolated or with associated anomalies. In the cases with prenatal diagnosis, we performed a correlation between prenatal and postmortem findings. Abnormal cardiac findings were identified in 99 fetuses (13.6%). The two most common categories were septal defects and complex anomalies, each occurring in 21 fetuses (21.2%). Sixty-seven (67.7%) had associated anomalies. Septal anomalies were more frequent in cases with associated anomalies (p=0.012). Prenatal diagnosis had been performed in 50 cases. There was complete agreement between prenatal and postmortem diagnosis in 36 cases (72%), and major agreement with additional information in ten (20%). When the echocardiogram was not performed by a specialist, the number of cases classified with complete disagreement was higher (33.3% vs 2.4%) (p=0.002). The high prevalence of cardiac defects in lost pregnancies, some of them lacking prenatal diagnosis, highlights the importance of examining the heart in all cases.

Right bundle branch block as a marker for interatrial septal abnormalities

Interatrial septal anomalies, which include atrial septal defect, patent foramen ovale, and atrial septal aneurysm, are common disorders among adult patients. Early detection of interatrial septal anomalies is important in order to prevent haemodynamic consequences and/or thromboembolic events. Electrocardiogram offers some clues that should serve as hints for detection of interatrial abnormalities. The aim of our study was to analyse the interatrial septum by transoesophageal echocardiography in patients with electrocardiogram signs of right bundle branch block and in those without right bundle branch block. In a prospective study, 87 adult patients were included, that is, 41 with electrocardiogram signs of right bundle branch block forming the first group and 46 without right bundle branch block forming the second group. Interatrial septal anomalies were present in 80.5% of the patients with right bundle branch block, with patent foramen ovale (39.02%) being the most prevalent disorder, followed by atrial septal aneurysm (21.9%) and atrial septal defect (19.5%). Interatrial septal abnormalities were significantly more frequent in the first group compared with the second group (80.5% versus 6.5%, p value less than 0.001). Independently, patent foramen ovale was significantly more prevalent in patients with right bundle branch block (39.02% versus 4.3%, p value less than 0.001), as were atrial septal aneurysm (21.9% versus 2.2%, p value equal 0.01) and atrial septal defect (19.5% versus 0%, p value equal 0.004). Right bundle branch block should serve as a valuable indicator to motivate a detailed search for interatrial septal abnormalities.

Association of Interatrial Septal Abnormalities with Cardiac Impulse Conduction Disorders in Adult Patients: Experience from a Tertiary Center in Kosovo

Interatrial septal disorders, which include: atrial septal defect, patent foramen ovale and atrial septal aneurysm, are frequent congenital anomalies found in adult patients. Early detection of these anomalies is important to prevent their hemodynamic and/or thromboembolic consequences. The aims of this study were: to assess the association between impulse conduction disorders and anomalies of interatrial septum; to determine the prevalence of different types of interatrial septum abnormalities; to assess anatomic, hemodynamic, and clinical consequences of interatrial septal pathologies. Fifty-three adult patients with impulse conduction disorders and patients without ECG changes but with signs of interatrial septal abnormalities, who were referred to our center for echocardiography, were included in a prospective transesophageal echocardiography study. Interatrial septal anomalies were detected in around 85% of the examined patients. Patent foramen ovale was encountered in 32% of the patients, and in combination with atrial septal aneurysm in an additional 11.3% of cases. Atrial septal aneurysm and atrial septal defect were diagnosed with equal frequency in 20.7% of our study population. Impulse conduction disorders were significantly more suggestive of interatrial septal anomalies than clinical signs and symptoms observed in our patients (84.91% vs 30.19%, P=0.002). Right bundle branch block was the most frequent impulse conduction disorder, found in 41 (77.36%) cases. We conclude that interatrial septal anomalies are highly associated with impulse conduction disorders, particularly with right bundle branch block. Impulse conduction disorders are more indicative of interatrial septal abnormalities in earlier stages than can be understood from the patient’s clinical condition.

Patent foramen ovale in patients with tension headache: is it as common as in migraineurs? An age- and sex-matched comparative study

The association of patent foramen ovale (PFO) and atrial septal aneurysm (ASA) with migraine headache attack (MHA) has been clearly shown. The same findings have been recently demonstrated also in cluster headache. Although tension-type headaches (TTH) are the most common kind of headache, their association with these atrial septal abnormalities has never been studied before. The study was conducted to clarify whether there was a significant association between the presence of such atrial septal abnormalities and tension headache, when compared with migraineurs. One hundred consecutive patients with migraine and 100 age- and sex-matched subjects with TTH and 50 healthy volunteers with no headache were enrolled in the study and underwent a complete transesophageal echocardiographic study with contrast injections at rest and with the Valsalva maneuver. There was no significant difference between the age and the sex of the participants of the three groups. The overall prevalence of PFO was 23% in patients with TTH and that of large PFOs was only 11%. The 23% prevalence of PFO in patients with TTH was not statistically different from 16% found in our normal control group. Furthermore, we found a significantly higher prevalence of PFO in migraineurs (50%) when compared with patients with tension headache (p < 0.001). This was also true for the collective presence of large PFOs and ASAs (35%) (p < 0.001). Although atrial septal anomalies have an association with MHA, they do not have a significant association with TTH.

Frontiers of Patent Foramen Ovale Closure and New Design Improvements – A Review of the Literature

The foramen ovale provides communication between both atria in utero, and although anatomical closure usually occurs in the first two years of life, it may remain patent (patent foramen ovale [PFO]) into adulthood. The autopsy prevalence of PFO was 27% among 965 otherwise normal hearts,1 and transoesophageal echocardiography detected PFO in 24.3% of 585 randomly sampled individuals.2 PFO is associated with other septal anomalies, such as atrial septal aneurysms (ASAs) and prominent Chiari networks.2

Congenital and Acquired Lesions of the Nasal Septum: A Practical Guide for Differential Diagnosis

Many different types of lesions may involve the nasal septum, and some can destroy it. Congenital nasal septal anomalies are rare and tend to have fairly typical imaging features, which, when considered alongside the imaging appearance of the normal anatomy, help determine the correct diagnosis in most instances. By contrast, many acquired lesions have nonspecific imaging features, and their diagnosis therefore must be based also on the patient's age and the histologic findings. Acquired nasal septal abnormalities may be caused by trauma, infection, toxicity, inflammation, or tumors. Traumatic lesions may result from surgery or from repetitive behaviors such as rhinotillexomania. Frequent use of decongestants and cocaine also may erode the nasal septum. Bacteria, mycobacteria, and fungi may cause infections of the nasal septum, particularly in immunocompromised patients. Inflammatory diseases that may affect the nasal septum include sarcoidosis, reparative granuloma, and Wegener granulomatosis. Last, the tumors that may arise in the nasal septum or may involve it secondarily include carcinomas, Pindborg tumor, sarcoma, angiofibroma, hemangioma, neuroendocrine tumor, and schwannoma.

Congenital isolated absence of the nasal cartilaginous septum

Congenital anomalies of the nasal septum, except septal deviation, constitute a small portion of all congenital nasal anomalies. In this report, we present a patient with congenital isolated absence of the quadrilateral cartilage of the nasal septum. Congenital septal anomalies are extremely rare, and congenital isolated absence of the quadrilateral cartilage has not been reported in the literature before.

Age-related aspects of balloon angioplasty for postsurgical aortic recoarctation

Balloon angioplasty is now the elective technique for relief of aortic recoarctation, since it has low mortality, low morbidity, and good results at follow-up. Some concern exists concerning the possible increased risk in young children. To investigate such age-related aspects, we examined 58 children undergoing consecutive balloon angioplasty for postsurgical recoarctation. Of the children, 30 were younger and 28 older than 1 year. Recoarctation was more frequent with ventricular septal defect or other cardiac anomalies (p < 0.001). Systolic hypertension was present in 70% of children aged less than 1 year, but in only 32% of those older than 1 year (p < 0.001). The initial gradient was inversely related with the age at dilation (r = -0.28, p < 0.05), and correlated with systolic blood pressure (r = 0.81, p < 0.01). The procedure was successful in 87% of children older than, and 86% of those under 1 year. Age was not related with residual gradient, nor with the percentage increase of diameter of the site of stenosis. After balloon angioplasty, systolic hypertension was still present in 37% of children younger than 1 year, and in 25% of those older than 1 year (p < 0.05). Three complications occurred in children younger than 1 year, and 6 in those older (p < 0.05). Our results show, first, that recoarctation occurs earlier in the setting of complex disease, second that children suffering recoarctation at a younger age are more likely to be hypertensive, either before or after balloon angioplasty, third, that balloon angioplasty has the same rate of success in children below or above the age of one year, although the procedure still carries a not negligible risk. Finally, the procedure does not carry a higher risk for those children below the age of 1 year.

Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection

We report on a 17-month-old girl with multiple malformations, including lung hypoplasia, multiple ventricular septal defects, craniofacial anomalies, and malrotation of the intestine. Moreover, the patient showed Robin sequence, developmental delay, as well as pre- and postnatal growth retardation. Postnatal cytogenetic analysis revealed an interstitial deletion on the long arm of chromosome 2. Microdissection and reverse chromosome painting of the aberrant chromosome 2 as well as FISH with a panel of chromosome 2q band-specific YACs mapped the deletion to 2q33-q35. Lung hypoplasia has not been described so far in patients with del(2)(q33-q35). A review of previously reported patients showed variable phenotypes apparently due to different deleted chromosomal segments.