We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype-genotype relationship in patients with 7q21.13q22.1 deletion.
Adult ; Amniotic Fluid ; Brachydactyly ; Congenital Abnormalities ; Ear ; Female ; Hearing Loss ; Humans ; Infant, Newborn ; Interphase ; Karyotype ; Karyotyping ; Microcephaly ; Nuchal Translucency Measurement ; Parents ; Parturition ; Polydactyly ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis* ; Syndactyly ; Tracheal Stenosis

OBJECTIVETo discuss the diagnosis and surgical treatment of congenital vascular ring and prognostic factors.

METHODSThe clinic data of 42 cases of congenital vascular from January 2010 to December 2013 was analyzed retrospectively (accounting for 1.04% congenital heart operations over the same period ). There were 26 male and 16 female patients, aged at surgery 24 days to 6 years (average 10.7 months). The diagnosis including pulmonary artery sling in 26 cases, double aortic arch in 10 cases, right aortic arch with aberrant left subclavian artery in 3 cases, pulmonary artery sling and right aortic arch with vagus left subclavian artery in 2 cases, pulmonary artery sling and left aortic arch with vagus right subclavian artery in 1 case. In addition to 4 cases the remaining 38 patients were still combined with other cardiovascular malformations. Thirty-six cases of children underwent spiral CT airway remodeling, 23 children underwent fiber- bronchoscopy. In addition to 2 cases of airway abnormalities not seen, the rest of the children were present in varying degrees in different parts of tracheal stenosis or tracheomalacia. All patients underwent surgical correction of congenital vascular ring, concomitant heart deformity correction surgery according to the situation (7 cases of atrial septal defect repair, 3 of ventricular septal defect repair, 1 of mitral valvuloplasty, 1 of bi-Glenn, 1 of coarctation of the aorta correction with ventricular septal defect repair, 1 of trilogy of Fallot correction). One case suffered resection of tracheal stenosis and Slide tracheoplasty simultaneously, another case was implanted tracheal stenting postoperatively after pulmonary artery sling correction.

RESULTSThree patients died in hospital (7.1%), the cause of death were recurrent granuloma formation postoperatively. Remaining 39 patients were successfully discharged. The median time of overall survival of children with mechanical ventilation was 14 h (22 h) (M (Q(R))), median ICU residence time was 5 d (8 d), and the median in-hospital time was 19 d (9 d). Tracheal intubation time and postoperative ICU duration time in children with pulmonary artery sling children were much more than in children with double aortic arch (23 h (123 h) vs. 9 h(9 h), 7 d (13 d) vs. 4 d (2 d)), but the difference were not statistically significant. There was significant difference in the duration of hospitalization between the patient with the pulmonary artery sling and double aortic arch (23 d (9 d) vs. 16 d(6 d)) (χ(2) = 10.157, P = 0.006).

CONCLUSIONSThe recent results of surgical treatment of congenital vascular ring is safe and effective. The extent and scope of tracheal stenosis and tracheomalacia is a critical influence prognosis.

Aorta ; abnormalities ; Aorta, Thoracic ; abnormalities ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; surgery ; Heart Septal Defects, Ventricular ; surgery ; Heart Ventricles ; abnormalities ; Humans ; Infant ; Infant, Newborn ; Male ; Prognosis ; Pulmonary Artery ; abnormalities ; Retrospective Studies ; Tomography, Spiral Computed ; Trachea ; surgery ; Tracheal Stenosis ; surgery ; Treatment Outcome

OBJECTIVETo retrospectively analyze the experience of one-stage surgical correction for children with congenital heart diseases and tracheal stenosis and further to clear the principle of treatment for these patients.

METHODSFrom January 2006 to June 2013, 48 patients with congenital heart diseases and tracheal stenosis underwent surgical correction. There were 36 male and 12 female patients. The mean age at operation was (23 ± 27)months (range: 3-72 months) and the mean weight was (12 ± 8) kg (range: 3.4-46.0 kg). The underlying diagnoses were pulmonary sling in 33 patients, double aortic arch in 3, tetrology of Fallot in 6, ventricular septal defect in 4, double outlet right ventricle in 1, and pulmonary atresia in 1 patient. Among them, short tracheal stenosis was present in 15, long tracheal stenosis in 25 and bridging bronchus in 8 patients. Repairs with autogenous tracheal tissue were performed in 6, and end-to-end anastomosis in 11 and slide tracheoplasty in 31 patients. Two patients had granulation tissue growing in the airway postoperatively and were re-operated by autogenous rib tissue. All of patients were followed up after operation 1, 3, 6, 12 months and if the patient had symptoms that should be examined by bronchoscopy. The patients should be examined by CT post-operation one year.

RESULTSThere were 7 deaths in all 48 cases and the early mortality was 14.6%. Two deaths were not related to tracheal stenosis, and other 5 were associated with long segment tracheal stenosis. Forty-one patients were followed for 2 months to 6 years, and no patients required re-operations. Clinical symptoms of tracheal stenosis disappeared and the results of CT scan were satisfied.

CONCLUSIONSOne stage surgical repair of the patients with congenital heart diseases and tracheal stenosis have a good effect. Slide tracheoplasty is the effective surgical method for long segment tracheal stenosis. Postoperative granulation tissue growing in the airway is the leading cause of death.

Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; complications ; surgery ; Humans ; Infant ; Male ; Retrospective Studies ; Tracheal Stenosis ; complications ; surgery

OBJECTIVETo explore the diagnostic and therapeutic methods for perioperative children with congenital heart disease (CHD) with airway stenosis in pediatric intensive care unit (PICU).

METHODFiberoptic bronchoscopy was used for the diagnosis of 100 CHD cases in PICU who were clinically considered to have possible airway malformation because of complicated difficult-to-control lung infection, atelectasis and failure with the ventilator after surgery from January 2010 to October 2011. Cases who were confirmed to have severe airway stenosis by bronchoscopy and weaning from the ventilator after surgery were treated with balloon expandable stents into the desired position in the bronchoscopy.

RESULTThere were 73 cases (73%) of CHD patients with airway abnormalities, including 31 cases of severe stenosis (31%), moderate stenosis in 29 cases (29%), mild stenosis in 13 cases (13%). Nine of the 10 children in whom the mechanical ventilation was hard to be stopped after surgery because of severe airway stenosis were weaned from mechanical ventilation successfully by fiberoptic bronchoscopy, while one case died from primary disease with severe sepsis after the placement of bronchial stents.

CONCLUSIONCHD children with difficult-to-control lung infection, atelectasis and failure with ventilator after surgery are often complicated with airway abnormalities. The therapeutic bronchoscopy with airway stent can be used for cases with weaning from the ventilator because of severe airway stenosis.

Airway Obstruction ; diagnosis ; etiology ; therapy ; Bronchoscopy ; methods ; Constriction, Pathologic ; Female ; Follow-Up Studies ; Heart Defects, Congenital ; complications ; diagnosis ; surgery ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Pediatric ; Lung Diseases ; diagnosis ; etiology ; therapy ; Male ; Perioperative Period ; Respiration, Artificial ; Stents ; Trachea ; abnormalities ; Tracheal Stenosis ; diagnosis ; etiology ; therapy ; Treatment Outcome

OBJECTIVETo investigate the clinical characteristics, diagnosis and therapy of Keutel syndrome, and thereby to minimize the misdiagnosis.

METHODData of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.

RESULTAn 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The nose was small and flat. A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum. The end phalanges of his fingers were thickened. Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis. Echocardiographic examination revealed the right pulmonary stenosis. With endoscopic surgery, antiobstructive and antibiotic therapy clinical symptoms were improved. Three weeks later he died of lung reinfection after he was discharged from our hospital. English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients, and the clinical symptoms were hearing loss (91%), persistent respiratory symptoms (68%), recurrent otitis media/sinusitis (67%), growth development delay (52%) in turn, and signs were brachytelephalangism (100%), low nasal bridge (95%), midfacial hypoplasia (93%), cardiac murmur (69%), and auxiliary examinations showed abnormal cartilage calcification (100%), pulmonary arterial stenosis (72%), tracheobronchial stenosis (50%).

CONCLUSIONThe diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenosis, and midfacial hypoplasia. Tracheal stenosis was main clinical manifestation in part of patients.

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; therapy ; Bone and Bones ; diagnostic imaging ; Calcinosis ; diagnosis ; diagnostic imaging ; therapy ; Cartilage ; diagnostic imaging ; Cartilage Diseases ; diagnosis ; diagnostic imaging ; therapy ; Diagnosis, Differential ; Hand Deformities, Congenital ; diagnosis ; diagnostic imaging ; therapy ; Humans ; Infant ; Male ; Pulmonary Valve Stenosis ; diagnosis ; diagnostic imaging ; therapy ; Radiography, Thoracic ; Retrospective Studies ; Tomography, X-Ray Computed ; Tracheal Stenosis ; diagnosis ; diagnostic imaging

Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; complications ; Humans ; Infant ; Infant, Newborn ; Male ; Tracheal Stenosis ; diagnosis ; therapy

OBJECTIVETo investigate etiology and airway management in children with tracheobronchomalacia.

METHODBronchoscopic examinations were performed in 671 children. The cases with tracheomalacia and bronchomalacia were analyzed in etiopathogenesis and summarized their therapy simultaneously.

RESULTBronchoscopic examination indicated tracheomalacia and bronchomalacia in 148 cases, tracheomalacia in 77 cases and bronchomalacia in 71 cases. Among the cases with tracheomalacia, compression by vascular rings was found in 46 cases, incorporated congenital esophageal atresia with tracheoesophageal fistula was found in 5 cases, tracheomalacia was associated with tracheostoma and mechanical ventilation in 6 cases, with congenital airway malformation in 11 cases and isolated tracheomalacia was found in 4 cases. Among the cases with bronchomalacia, incorporated congenital cardiovascular malformation was found in 64 cases, congenital airway malformation in 6 cases and isolated bronchomalacia in 1 case. Ten children with anomalous innominate artery underwent aortopexy, twelve children with dextro-aorta arch with concomitant aberrant left subclavian artery and double aorta underwent arches vascular ring lysis, six children with pulmonary sling underwent plasty. Severe malacia segments were resected directly in four children during operation. Mechanical ventilation was performed in 38 children. Tracheostoma was performed in 4 children to treat tracheomalacia and bronchomalacia, it could relieve symptom to a certain extent. In 2 children metal stents were inserted into the bronchus for the treatment of bronchomalacia, one was successful and the other needed re-insertion of stent again, these two patients underwent balloon-dilatation in distal part of stent afterwards.

CONCLUSIONThe congenital cardiovascular malformation was the main reason to develop tracheobronchomalacia in children. The symptom of majority of the cases with cardiovascular malformation would be improved within 6 months after surgical intervention. In severe cases, treatments included mechanical ventilation and tracheostoma. Stenting could be applied in refractory cases, but it had certain limitations.

Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; complications ; therapy ; Humans ; Infant ; Male ; Stents ; Trachea ; pathology ; Tracheal Stenosis ; etiology ; therapy ; Tracheobronchomalacia ; diagnosis ; etiology ; therapy

Long-segment tracheal stenosis in infants and small children is difficult to manage and can be life-threatening. A retrospective review of 12 patients who underwent surgery for congenital tracheal stenosis between 1996 and 2004 was conducted. The patients' median age was 3.6 months. All patients had diffuse tracheal stenosis involving 40-61% (median, 50%) of the length of the trachea, which was suspected to be associated with complete tracheal ring. Five patients had proximal bronchial stenosis also. Ten patients had associated cardiac anomalies. Three different techniques were performed; pericardial patch tracheoplasty (n=4), tracheal autograft tracheoplasty (n=6), and slide tracheoplasty (n=2). After pericardial tracheoplasty, there were 2 early and 2 late deaths. All patients survived after autograft and slide tracheoplasty except one who died of pneumonia one year after the autograft tracheoplasty. The duration of ventilator support was 6-40 days after autograft and 6-7 days after slide tracheoplasty. The duration of hospital stay was 13-266 days after autograft and 19-21 days after slide tracheoplasty. Repeated bronchoscopic examinations were required after pericardial and autograft tracheoplasty. These data demonstrate that pericardial patch tracheoplasty show poor results, whereas autograft or slide tracheoplasty gives excellent short- and long-term results.
Body Weight ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Length of Stay ; Male ; Pulmonary Artery/pathology ; Respiratory System Abnormalities/surgery ; Thoracic Surgical Procedures ; Trachea/anatomy & histology ; Tracheal Stenosis/*congenital/*surgery ; Treatment Outcome

BACKGROUND: Aortopulmonary window (APW) is a very rare congenital heart anomaly, often associated with other cardiac anomalies. It causes a significant systemic to pulmonary artery shunt, which requires early surgical correction. Accurate diagnosis and surgical correction will bring good outcomes. The purpose of this study was to describe our 20-year experience of aortopulmonary window. MATERIAL AND METHOD: Between March 1985 and January 2005, 16 patients with APW underwent surgical repair. Mean age at operation was 157.8+/-245.3 (15.0~994.0) days and mean weight was 4.8+/-2.5 (1.7~10.7) kg. Patent ductus arteriosus (8), atrial septal defect (7), interrupted aortic arch (5), ventricular septal defect (4), patent foramen ovale (3), tricuspid valve regurgitation (3), mitral valve regurgitation (2), aortic valve regurgitation (1), coarctation of aorta (1), left superior vena cavae (1), and dextrocardia (1) were associated. Repair methods included 1) division of the APW with primary closure or patch closure of aorta and pulmonary artery primary closure or patch closure (11) and 2) intra-arterial patch closure (3). 3) Division of the window and descending aorta to APW anastomosis (2) in the patients with interrupted aortic arch or coarctation. RESULT: There was one death. The patient had 2.5 cm long severe tracheal stenosis from carina with tracheal bronchus supplying right upper lobe. The patient died at 5th post operative day due to massive tracheal bleeding. Patients with complex aortopulmonary window had longer intensive care unit and hospital stay and showed more morbidities and higher reoperation rates. 5 patients had reoperations due to left pulmonary artery stenosis (4), right pulmonary artery stenosis (2), and main pulmonary artery stenosis (1). The mean follow-up period was 6.8+/-5.6 (57.0 days~16.7 years)years and all patients belonged to NYHA class I. CONCLUSION: With early and prompt correction of APW, excellent surgical outcome can be expected. However, optimal surgical method needs to be established to decrease the rate of stenosis of pulmonary arteries.
Aorta ; Aorta, Thoracic ; Aortic Coarctation ; Aortic Valve ; Bronchi ; Constriction, Pathologic ; Dextrocardia ; Diagnosis ; Ductus Arteriosus, Patent ; Follow-Up Studies ; Foramen Ovale, Patent ; Heart ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hemorrhage ; Humans ; Intensive Care Units ; Length of Stay ; Mitral Valve Insufficiency ; Pulmonary Artery ; Reoperation ; Tracheal Stenosis ; Tricuspid Valve Insufficiency ; Vena Cava, Superior

Bronchi ; abnormalities ; pathology ; Bronchial Diseases ; complications ; congenital ; diagnosis ; pathology ; Bronchoscopy ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Pneumonia ; etiology ; physiopathology ; Respiratory System Abnormalities ; complications ; diagnosis ; pathology ; Trachea ; abnormalities ; pathology ; Tracheal Stenosis ; etiology ; pathology