Microtia, Branchial Cleft Fistula, and Tetralogy of Fallot: A Possible Association.

When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned.

Hoarseness as the first symptom in a patient with acute suppurative thyroiditis secondary to a pyriform sinus fistula: a case report.

BACKGROUND: Pyriform sinus fistulas (PSFs) are rare congenital anomalies of the third or fourth brachial pouch. Dyspnea is reportedly secondary to compression by a neck mass. However, hoarseness, as the first symptom of PSF, has not yet been reported. CASE PRESENTATION: This report describes an 11-year-old girl presenting with hoarseness as the first symptom of PSF. Hoarseness occurred 2 days prior to admission. On admission, she had fever, hoarseness, and an elastic soft mass on her left anterior neck. Contrast-enhanced computed tomography of the cervical region demonstrated an abscess partially infiltrating the thyroid gland and an air pocket near the pyriform sinus. Pharyngoscopy revealed swelling of the left arytenoid region, with purulent retention. The left vocal cord was swollen but not paralyzed. Additionally, the laboratory data indicated thyrotoxicosis. Suspecting a PSF infection, parenteral treatment with cefotaxime and dexamethasone was initiated. On the following day, the hoarseness disappeared, and the fever resolved. Four weeks after onset, the thyroid hormone levels returned to the normal range, and a barium esophagogram revealed residual contrast in the left pyriform sinus, leading to a diagnosis of PSF. CONCLUSION: PSF presenting with hoarseness as the first symptom in patients should be considered.

Right coronary artery-coronary sinus fistula diagnosed by three-dimensional echocardiography.

Right coronary artery-coronary sinus fistula is a very rare congenital anomaly in which a right coronary artery fistula drains into the right atrium, right ventricle, or pulmonary artery. A right coronary artery-coronary sinus fistula was diagnosed in a 44-year-old man by three-dimensional echocardiography and confirmed by computed tomography angiography and surgery. Relevant published experience in diagnosing this kind of anomaly is summarized.

Fistula between the right pulmonary artery and the left atrium coexisting with a secundum-type atrial septal defect: An unusual case of cyanosis in a girl.

A fistula between the pulmonary artery (PA) and the left atrium (LA) is a rare congenital heart disease that usually presents with cyanosis, clubbing, and dyspnea, as well as the signs and symptoms of a right-to-left shunt. Herein, we report a 16-year-old girl with a fistula between the right PA and the LA. This type of fistula could lead to systemic desaturation. This patient also had an atrial septal defect of the secundum type and has been followed up without treatment. The clinical manifestations and treatment of fistulas located between the PA and LA are also reviewed in this report.

Transcatheter closure of right pulmonary artery to left atrium fistula in an infant: technical consideration and possible closure techniques.

Congenital right pulmonary artery to left atrium fistula is rare cause of cyanosis. It is an abnormal fistulous connection between right pulmonary artery and left atrium representing a direct communication between a pulmonary artery and vein with absence of capillary network connecting between these two. Cardiovascular examination usually remains normal. High index of suspicion on clinical examination and subsequent transthoracic echocardiography is needed to suspect this entity. Bubble contrast echocardiography usually confirms the diagnosis. Cardiac catheterization is used as diagnostic as well as therapeutic modality. Cardiac catheterization is useful in classifying the fistula and helps in transcatheter closure by embolization devices. Choice of devices depends on type of fistula, vascular access, and presence of atrial communication. Here, we are reporting 8-month-old girl presenting with type 2 right pulmonary artery to left atrium fistula, which underwent successful transcatheter closure by 6 mm/4 mm duct occluder (Heart R, Lifetech Scientific, Shenzhen, China). Early closure in this young age will prevent complications of cyanosis. The technical consideration, possible access, and closure techniques are discussed in this young infant.

A dissecting aneurysm of interventricular septum resulting from congenital coronary artery fistula.

RATIONALE: Ventricular septal dissecting aneurysms are rarely caused by congenital coronary artery fistulas. PATIENT CONCERNS: We present a rare case of ventricular septal dissecting aneurysm that resulted from a congenital coronary artery fistula in a 41-year-old female patient with the complaint of chest pain. DIAGNOSIS: Ventricular septal dissecting aneurysm resulting from a right coronary artery fistula. INTERVENTIONS: The patient was advised to receive transcatheter interventional therapy in the department of cardiology. OUTCOMES: It was difficult for the cardiac catheter to reach the orifice of fistula due to the long and circuitous nature of the right coronary artery, which ultimately resulted in abandoning interventional fistula occlusion therapy. The patient finally decided to undergo surgical treatment in Shanghai and the symptoms have been markedly improved after hemodynamic correction. LESSONS: The right coronary artery was the dominant vessel and the fistula was located in the distal part of the posterior descending branch of right coronary artery. Hence, transcatheter closure was appropriate; however, due to the fact that right coronary artery was too long and circuitous, the length of cardiac catheter was relatively insufficient. For this reason, a comprehensive and careful assessment before the operation is necessary.

Congenital vesicouterine fistulas-A PRISMA-compliant systematic review.

AIMS: Vesicouterine fistulas (VUFs) are infrequent abnormal connections between the bladder and the uterine cavity or cervical canal, being mainly sequelae of repeat Cesarean sections. Exceedingly rare are congenital VUFs. This is a systematic review of available world data aimed to characterize congenital VUFs and better understand the mechanism(s) of their formation. METHODS: The PubMed® database via MEDLINE® search engine was explored from its inception to March 2018. Relevant studies were identified using selected Medical Subject Heading-based terms. This was further supplemented by cross-referencing and handsearching. Retrieved literature was evaluated in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, or PRISMA, guidelines. RESULTS: A total of 6561 articles were identified of which 10 were analyzed. Three VUFs accompanied broader syndromes of congenital defects. A lack of patency at the level of the vagina was present in all assessed cases. Unilateral renal agenesis was confirmed in four of eight (50%) verified patients. Hence, unilateral kidney agenesis was related to a lesser degree (P = 0.0186) than vaginal atresia to VUF. The principal features of these fistulas were as follows: partial or complete vaginal atresia resulting in primary amenorrhea, menouria present since menarche, and urinary continence. CONCLUSIONS: This review provides the first systematic evidence that congenital VUFs are chiefly associated with concomitant vaginal atresia. The symptomatology of such VUFs is consistent with that of type I acquired fistulas.

Congenital Midline Upper Lip Sinuses: 3 Rare Cases.

Congenital sinuses of the upper lip are rare congenital malformations. There have been only 40 cases described in the literature. We report 3 cases of congenital midline upper lip sinus in Caucasian children. Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous cleft palate with bifid uvula). The pathophysiology remains unexplained yet. Congenital upper lip sinuses can be considered as possible microforms of cleft-lips. Associated anomalies are frequent and must be sought. The treatment is a full excision of the sinus tract and of the skin around the punctum in order to avoid risks of recurrence.

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.

BACKGROUND AND AIMS: Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. METHODS: We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. RESULTS: 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. CONCLUSIONS: Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

Histopathology and Immunophenotyping of Congenital Lacrimal (Anlage) Fistulae.

PURPOSE: To report the histopathological and immuno histochemical features of congenital lacrimal fistulae. METHODS: Retrospective chart review of all patients who underwent a fistulectomy for congenital lacrimal fistulae, over a 3-year period from a single surgeon's (M.J.A.) database, were included in the study. A detailed lacrimal system evaluation was performed, and intraoperative findings were documented. The excised fistulae were studied using hematoxylin and eosin and periodic acid-Schiff staining. Immunophenotyping was performed using CD3, CD5, CD10, and CD20. RESULTS: Twelve excised fistulae of 12 patients were studied. The mean age at presentations was 5.3 years (range, 3-11 years). The deeper parts of the fistulae were lined with hypertrophied stratified squamous epithelium similar to canalicular tissue in 83.3% (10/12), reflecting its origin from the canalicular tissue, and 16.7% (2/12) originated from the lacrimal sac and were lined with columnar epithelium with areas of squamous metaplasia. The subepithelial areas showed presence of fibrosis and chronic inflammatory infiltrate. The infiltrates were lymphoplasmacytic and were positive for CD3, CD5, and CD20 and negative for CD10 immunostaining. CONCLUSION: Hypertrophied stratified squamous lining was the commonest finding. Immunophenotyping revealed features of chronic inflammatory infiltrate composed of a mixture of both T and B lymphocytes. Histopathological analysis of fistulae may be of adjunctive value in determining the origin of the anlage.

Congenital lacrimal fistula: A major review.

The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

[Congenital cysts and fistulae in children]. / Kystes et fistules congénitaux de l'enfant.

Cysts and fistulae of the face and neck in children are formed before birth and correspond to the persistence of embryonic remnants that occur due to coalescence defects of embryonic buds or due to epidermal inclusion. They represent the most common pathological malformation of the face and neck. They may be separated according to their location into laterocervical cysts and fistulas or median cysts and fistulas. Their discovery may occur prematurely at birth or later during growth or in adulthood. Their treatment always requires surgical excision, which must be complete in order to prevent recurrences.

Sinus sternoclavicularis: a congenital cervical sinus.

We try to characterize a previously rather neglected congenital cervical sinus located in the sternoclavicular area in five children. This sinus showed extension to the left sternoclavicular joint in all patients, so we call this congenital lesion "sinus sternoclavicularis." With knowledge of this congenital lesion, diagnosis can easily be established based on case history and clinical examination; no further radiological tests are required. Surgical excision is the treatment of choice. The chance of recurrence seems to be high because of misinterpretation of the lesion.

Rapid spontaneous closure and remodelling of a medium-sized symptomatic congenital coronary artery fistula in an infant before the age of 3 months.

It is controversial to observe or close symptomatic congenital coronary artery fistula in infants. We herein describe a medium-sized symptomatic congenital coronary artery fistula that underwent rapid spontaneous closure in an infant aged <3 months.

Progressive aneurysmal dilation of coronary arterial fistula after transcatheter closure: successfully treated by a second occlusion device.

We report on a 6-year-old boy with a huge right coronary artery to the right ventricle fistula, who had previously been treated by device closure at the right ventricular exit point. However, 3 years later, the right coronary artery aneurysm showed progressively dilation and compressed the right ventricle. To prevent further complications related to the aneurysm, the proximal part of the aneurysm was successfully occluded by a vascular plug.

Congenital nasolacrimal duct fistula in Brown Swiss cattle.

BACKGROUND: An increased incidence of nasolacrimal duct fistula in the offspring of dam J and three of her sons (bulls A, B and C) prompted a study to investigate the prevalence and clinical manifestation of this anomaly. The dam J, bull B, 255 direct offspring of bulls A, B, and C and eight other direct and indirect offspring of cow J were examined. The periocular region of each animal was examined for unilateral or bilateral nasolacrimal duct fistula and the location, appearance and size of the lesions. RESULTS: Of 265 cattle examined, 54 had unilateral (n = 24) or bilateral fistula (n = 30). The prevalence of affected offspring differed significantly among the three bulls. The fistulae were located medial to the medial canthus of the eye and were 1 to 10 mm (median, 1 mm) in height and 1 to 12 mm (median, 2 mm) in length. The shape of the opening was circular in 58, oval in 23 and slit-like in three. One other animal had a large opening with an atypical shape and another had an abnormal medial canthus with several fistulous openings. Seventy openings were pigmented and 52 were hairless. The fistulae were clinically significant in 12 animals. CONCLUSIONS: The findings suggest a hereditary cause of nasolacrimal duct fistula in Brown Swiss cattle.

Right congenital pyriform sinus fistula.

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