Management of a congenital tracheoesophageal fistula in a young Spanish water dog

Background

Tracheoesophageal fistula (TEF) in dogs is a rare disease with only few reports in the literature. This report aims to contribute to the current literature on suitable diagnostic methods for TEF and to provide follow-up information after successful surgical treatment.

Case presentation

A seven-month-old intact female Spanish Water Dog was presented for further investigation of recurrent respiratory symptom. Bronchoscopy revealed a small hole-like defect in the tracheal wall at the bifurcation. The finding of the contrast material swallow study under fluoroscopy was indicative of a TEF. To further evaluate the connection between the trachea and esophagus, a computed tomography scan was performed. The TEF was surgically approached by thoracotomy through the right lateral sixth intercostal space. The fistula was identified, double ligated and divided. Histopathology confirmed the process to originate from the esophagus and to be patent. The dog was re-examined two weeks and ten months after surgery, with no evidence of recurring clinical signs.

Conclusions

Contrast material swallow study using fluoroscopy was the most reliable diagnostic method. Bronchoscopy may allow the fistula to be visualized, but due to a small fistular opening it can lead to a false negative result. Surgical correction by ligation and dividing of the fistula suggests a good prognosis for early diagnosed and operated TEF.     

The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia

BACKGROUND: Two severe birth defects, congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), have traditionally been analyzed separately in epidemiological studies. Lung hypoplasia (LH), part of the CDH spectrum, is not usually associated with EA/TEF, yet both are foregut malformations. METHODS: We conducted an epidemiological study of two combinations of the defects in the population of 3,318,966 live births and stillbirths monitored from 1983 to 1996 by the California Birth Defects Monitoring Program (CBDMP). RESULTS: A total of 433 cases had a Bochdalek type CDH/LH (0.13 per 1000 births), 893 had EA/TEF (0.27 per 1000 births), and 646 had LH (0.19 per 1000 births). Among them, 18 cases had CDH/LH with EA/TEF (0.005 per 1000 births), and 53 had EA/TEF and LH (0.02 per 1000 births); both prevalences are significantly higher than expected. Sixteen of 17 cases of CDH/LH with EA/TEF, and 34 of 40 cases of EA/TEF with LH were stillborn or died; 72% and 74%, respectively, had an autopsy. The male to female sex ratios were 1.43 and 1.13, respectively. In both groups, infants had similar proportions of additional severe defects, except for genitourinary and anal defects and syndromes/associations, which were more prevalent in the EA/TEF with LH group. We reviewed human studies and experimental animal models for factors reported to cause any combination of the defects. CONCLUSIONS: Several genetic and environmental factors could affect the significant co-occurrence of the defects. Future studies should include storage of patients' biological materials for DNA analysis, karyotyping, and environmental exposure evaluation.     

Rearrangements involving four chromosomes in a child with congenital abnormalities

This report describes a complex structural rearrangement between chromosomes X and 1 and a 7;13 translocation (together involving six break points) in a child with multiple congenital defects. Both parents showed a normal chromosome complement, suggesting that the changes may have originated either in a gametic nucleus or at a very early stage of zygotic development.     

Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome

Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families with CNS. To our knowledge, however, whether or not NPHS1 is the causative gene in sporadic Chinese CNS cases has not been established. We identified a homozygous mutation of NPHS1, 3250insG (V1084fsX1095), in a Chinese child with sporadic CNS. This finding leads us to suggest that NPHS1 mutations are also present in sporadic Chinese CNS cases. This gives additional support for the necessity for genetic examination of mutations in the NPHS1 gene in Chinese children with sporadic CNS.     

A comparison of incidence trends for esophageal atresia and tracheoesophageal fistula, and infectious disease

There has been a suggestion that esophageal atresia with tracheoesophageal fistula (EA/TEF) may be related to the occurrence of infectious disease in the population during the time of early gestation. There is therefore a need for further data on trends in incidence related to infectious diseases. Data on the occurrence of EA/TEF with and without additional congenital malformations may also be relevant. The British Columbia Health Surveillance Registry is population-based with excellent case ascertainment of birth defects, and data are available on the incidence of infectious diseases for B.C., allowing comparison of trends to be made. One hundred forty-nine cases of EA/TEF occurred among 534,834 consecutive livebirths during the period 1966-1980 for an incidence rate of 1/3,590. No significant (p less than 0.05) annual, seasonal or monthly incidence trends were observed. In addition, the occurrence of EA/TEF could not be correlated with the prior incidence of infectious hepatitis, rubella, salmonella, or rubeola. Fifty-five percent of individuals with EA/TEF had congenital malformations in other systems, most frequently cardiovascular, gastrointestinal, and genitourinary. Most individuals with additional congenital malformations had multiple system involvement.     

Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations

The terminal deletion with stable acentric fragment of 1q was found in a girl with multiple congenital malformations and severe mental retardation. The karyotype of both parents was normal, and the aberration appears de novo. The medium did not influence the expression of the aberration.     

14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies

A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.     

Gender-related differences in octogenarians with congenital coronary artery fistula: a report of two cases and a review

Aim

To highlight gender-related differences in octogenarians with a congenital coronary artery fistula (CAF).

Materials and methods

We present two elderly female patients with a congenital fistula, a septuagenarian and a nonagenarian, and review the world literature between 1954–2010.

Results

The septuagenarian patient presented with easy fatigability and the nonagenarian patient with acute myocardial infarction contralaterally to the fistula. Coronary angiography (CAG) demonstrated a coronary-pulmonary artery fistula (CPF). The nonagenarian patient underwent percutaneous coronary intervention of the right coronary artery. CAG revealed a CPF associated with a huge multiple aneurysmal formation. Data from 57 mainly symptomatic patients with a mean age of 75.3 years (range 70–87 years) were collected. The cohort was subdivided into female (mean age 84.3 years) and male (mean age 75.2 years) subgroups and compared with each other. Multi-origin (bilateral and multilateral) was prevalent in females, 40% versus 12% in males. Aneurysmal formation was found in females and males in 40% and 18%, respectively. Ethnicity was 65% Caucasian and 35% Asian. Multi-origin fistulas were prevalent in the Asian (45%) compared with the Caucasian (11%) subset.

Conclusions

A septuagenarian and a nonagenarian female patient with congenital CAF are presented. On reviewing the literature, important differences were found between elderly females and males with congenital CAF.     

A model for blood flow through a stenotic tube

This article deals with the introduction of the modified Casson's fluid model as the true representation for the blood for the steady laminar flow through a small diameter artery with axi-symmetric identical double stenoses in series. The governing equations are solved by using the finite element method. The results for the velocity profiles, the pressure and the wall shear stress distributions in addition to the location and length of the flow reversal zones have been brought out and discussed in reference to the severity of the disease. It has been observed that the non-Newtonian nature of the blood helps in reducing the magnitude of the peak wall shear stress at the throat and the length of the reversed flow regions in the post stenotic dilatation.     

Transhepatic approach for catheter ablation of accessory pathway in a child with complex congenital heart disease

We report on a 22-month-old boy with drug-resistant atrioventricular reentrant tachycardia and complex structural heart disease consisting of right atrial isomerism, mirror image orientation of the intrathoracic veins, hemi-azygos continuation to the left superior vena cava, separate drainage of the hepatic veins into the left-sided atrium, congenitally corrected transposition, pulmonary atresia, and atrial and ventricular septal defects.Access to the heart for radiofrequency (RF) ablation was obtained by percutaneous puncture of a hepatic vein, the left internal jugular vein, and femoral artery. The accessory pathway was localised to the free wall of the left-sided AV groove and successfully ablated. There were no procedure-related complications.RF ablation of an accessory pathway is feasible in young children with complex structural heart disease and abnormal systemic venous return. In such patients access to the heart must be planned with knowledge of the anatomy and judicious use of the hepatic venous approach.     

Case of unbalanced translocation (18, 22) in a child with congenital mental retardation

A cytogenetical examination of a boy aged 4 with congenital mental deficiency and multiple anomalies of its phenotype has revealed unbalanced translocation (18, 22) (18 qter----cen----22 qter).