Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A survey by parent questionnaire and interview was carried out to determine the frequency of health problems in 204 children with Down syndrome. Seventy-two children (35.3%) had a congenital heart defect. Refraction had been performed on 196 and 68 (34.6%) of these had a refractive error. A diagnosis of 'glue ear' had been made in 112 (54.9%) and in 12 (11%) of these permanent hearing loss was present. Significant ill-health over the previous 12 months consisted of cardiac failure (two children), more than three upper respiratory tract infections (24 children), bronchitis (eight children), pneumonia (two children) and asthma (seven children). A neck X-ray had been performed in 172 (84.3%) and had demonstrated the presence of atlanto-axial instability in 12 (7%) of these. One hundred and thirty-two (64.7%) of the children had been tested for hypothyroidism in the previous 18 months and this had been found in four (3%) of these children. The implications of these and other findings are discussed in relation to parental counselling and planning of routine health checks.
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PMID:Health problems and health checks in school-aged children with Down syndrome. 138 51

We report a case of Down's syndrome in a 22-year-old woman who developed vitamin C deficiency with subsequent appearance of the characteristic joint pains and cutaneous and mucosal lesions of scurvy. A low intake of vitamin C due to peculiar eating habits and reduced absorption due to cardiac insufficiency and treatment with a platelet-aggregation inhibitor were considered to have caused the deficiency. Follicular purpura is a diagnostic skin sign of scurvy.
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PMID:[Scurvy in trisomy 21]. 183 11

Clinical experience with long-term nifedipine treatment in 23 patients aged between 1 1/12 and 14 8/12 years is reported. The cardiopulmonary diseases comprised primary pulmonary diseases with pulmonary hypertension (n = 4), congenital heart defects with intracardiac shunts and pulmonary hypertension which either were inoperable as a result of an Eisenmenger reaction (n = 7) or presented a high surgical risk (n = 5), or defects in which pulmonary hypertension did not regress despite corrective (n = 1) or palliative surgery (n = 3), and congenital defects without pulmonary hypertension (n = 3). Subjective improvement with an increase in physical performance was clearly observed in 15 cases. Echocardiography and cardiac catheter examinations showed no progression of the pulmonary arterial diseases, except in 1 patient with severe primary pulmonary hypertension and an 11-year observation period with nifedipine treatment during the last 4 years. No complications occurred during the 4 corrective operations. A patient aged 14 8/12 years with the Down syndrome and atrioventricular septal defect developed easily controllable heart failure during 7-day administration of nifedipine without additional cardiotherapy. 4 children initially suffered from flushed face and scalp, in one case with headache; 2 children reported fatigue. Long-term treatment with nifedipine should begin with strict 7-day supervision in hospital and possibly additional digitalization. Success of the treatment was determined by an improved quality of life in patients with primary pulmonary hypertension and inoperable defects, and by a reduced perioperative risk and postoperative regression of pulmonary hypertension in patients with operable defects.
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PMID:Experience with long-term nifedipine therapy in paediatric cardiological patients. 211 16

During the 5-year period from 1981 to 1985, Nissen fundoplication was performed on 13 esophageal atresia patients. One patient with Down's syndrome died because of cardiac malformation 2 weeks after the operation and is excluded from the analysis. Nine of the remaining 12 patients had the usual malformation with distal fistula, while three had isolated atresia. In eight patients there was a long gap between the segments, and in five Livaditis myotomy was necessary. The median age of the patients at the fundoplication was 1.3 years (range, 4.5 months to 10.6 years). The main clinical manifestations were anastomotic stricture (six patients), respiratory complications (three patients), vomiting and difficulties in feeding (two patients), and esophagitis only (one patient). Altogether nine patients had preoperative distal esophagitis. Mean follow-up time was 4.1 years (range, 2.0 to 6.4 years). All patients primarily benefited from the operation. Routine control endoscopy 3 to 8 months after the operation showed a competent fundoplication in all patients. However, in five patients the reflux later recurred, and endoscopy revealed a partially disrupted fundal wrap and esophagitis. Four patients underwent refundoplication and one is waiting for it as of this writing. Four patients had Barrett's esophagus at the last endoscopic control. There was one late death due to cardiac failure. In conclusion, although the short-term results of Nissen fundoplication in esophageal atresia patients are good, the risk for late recurrence is high. Regular long-term follow-up is therefore necessary.
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PMID:Failure of the Nissen fundoplication to control gastroesophageal reflux in esophageal atresia patients. 280 72

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

Obstructive sleep apnea in children may result in hypoxia, right-sided heart failure, and sudden death. Children with craniofacial deformities and/or cerebral palsy are at high risk for the development of obstructive sleep apnea. Prompted by the excellent results obtained in adults when sleep apnea was managed by an aggressive surgical approach, we undertook a similar treatment philosophy in children. Twenty-eight patients representing four diagnostic groups were evaluated and operated on for severe upper airway obstruction: Down syndrome (n = 5), cerebral palsy (n = 12), Goldenhar syndrome (n = 4), and a mixed apnea group (n = 7). Tracheostomy was avoided in 25 of 28 patients (89 percent), with a marked decrease in apnea (median 90 percent) and hypopnea (median 87 percent) episodes. Tongue hyoid suspension and skeletal expansion procedures, which were the mainstay of treatment, were applied for the first time in children and adolescents with obstructive sleep apnea.
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PMID:Surgical therapy for severe refractory sleep apnea in infants and children: application of the airway zone concept. 760 28

A case of 3 month-old-boy with Down's syndrome and heart failure due to a localized arteriovenous fistula of the cranial vessels is reported. Clinical diagnosis was made after cranial bruit detection based on a retroauricular thrill incidentally felt by the mother. The diagnosis was confirmed by digital subtraction angiography and a good result was achieved by means of embolization and surgical ligation of the fistula. Three years after the operation the patient is asymptomatic, on no medication and with normal magnetic resonance image of the cranial vessels.
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PMID:[Congenital cerebral arteriovenous fistula. Diagnostic peculiarity and surgical repair in an infant with heart failure]. 777 93

To date, a paucity of information is available on the optimal management of obstructive sleep apnea in Down syndrome, which may have particularly important implications in this already vulnerable patient population. The objective of this study was to evaluate prospectively the results of a new surgical approach for the treatment of obstructive sleep apnea. Patients with Down syndrome and obstructive sleep apnea underwent preoperative and postoperative polysomnography and clinical and radiologic evaluation to determine prospectively the efficacy of sleep apnea surgery. Statistical testing of apnea index, respiratory disturbance index, and lowest oxygen saturation were compared by means of paired t tests. Seven children (five boys, two girls) from 3 to 12 years of age were subjected to a management protocol that included an aggressive surgical approach to the treatment of obstructive sleep apnea. Clinical symptoms and signs of obstructive sleep apnea, apnea index, respiratory disturbance index, lowest oxygen saturation, and surgical morbidity were the main outcome measures. Surgical treatment consisted of a combination of soft-tissue and skeletal alterations including tongue reduction (n = 6), tongue hyoid advancement (n = 4), uvulopalatopharyngoplasty (n = 7), and maxillary or midface advancement (n = 2). Polysomnography was obtained preoperatively and postoperatively in six patients. One patient was intubated preoperatively. Mean preoperative apnea index and respiratory disturbance index were 34.00 and 52.46 compared with mean postoperative values of 1.62 and 6.46, respectively. Clinically, all patients were improved symptomatically in terms of snoring, noisy breathing, and oxygen requirements. The one patient who had been intubated preoperatively for respiratory failure was extubated successfully but later developed recurrent tricuspid regurgitation and was found to have fixed pulmonary hypertension with cor pulmonale. This patient represented the only treatment failure and underwent tracheostomy. An aggressive surgical approach aimed at correcting all anatomic abnormalities associated with upper airway obstruction was applied successfully to the treatment of obstructive sleep apnea in Down syndrome. We suggest periodic polysomnography in patients with Down syndrome, especially if there is unexplained deterioration in mental capacity or other signs and symptoms of obstructive sleep apnea. Surgical treatment should address both the soft-tissue abnormalities and the skeletal deformities such as midface retrusion. Preoperative cardiac ultrasonography is important to determine the presence of right-sided heart failure, which may be an indication for cardiac catheterization to determine pulmonary venous pressures.
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PMID:Down syndrome: identification and surgical management of obstructive sleep apnea. 904 80

The ultrasonographic measurement of nuchal translucency thickness at 10-13 weeks of gestation is accepted as an efficient method of screening for chromosomal abnormalities. However, the underlying mechanism producing increased nuchal translucency thickness is still poorly understood. The purpose of this study was to investigate the possible contribution of impaired cardiac function to such an increase, by studying the venous return in the ductus venosus, using Doppler ultrasound. In a total of 65 fetuses, nuchal translucency thickness was measured at 10-13 weeks of gestation by means of a transvaginal probe. Color-coded and pulsed Doppler ultrasound were also used to evaluate different hemodynamic parameters in the ductus venosus: maximum systolic and diastolic velocities, pulsatility index, lowest forward velocity during atrial contraction and fetal heart rate. Fetal nuchal translucency thickness of > or = 3 mm was found in 17 cases; in five of them there were chromosomal anomalies: four trisomy 21 and one trisomy 18. Of interest is the finding that in the five chromosomally abnormal fetuses with increased nuchal translucency thickness, the forward velocity during atrial contraction was consistently less than 2 cm/s (p < 0.001). This impairment of atrial contraction may well implicate cardiac failure and/or heart defects in the pathogenesis of increased nuchal translucency thickness in the first trimester of pregnancy. Furthermore, nuchal translucency may prove to be a sensitive marker for the early identification of fetal cardiac anomalies.
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PMID:Increased fetal nuchal translucency: possible involvement of early cardiac failure. 938 78

At 10-14 weeks of gestation about 80% of fetuses with chromosomal defects have abnormal accumulation of subcutaneous fluid in the nuchal region that is visualized by ultrasonography as nuchal translucency. A possible cause for this translucency is cardiac dysfunction due to the associated defects in the heart and great arteries. The aim of this study was to investigate whether in cardiac tissue from trisomic fetuses, compared to normals, there is an alteration in the steady state levels of expression of the genes encoding sarcoplasmic reticulum calcium ATPase (calcium ATPase), which is known to be downregulated in postnatal heart failure. After termination of pregnancy at 10-18 weeks of gestation, mRNA was extracted from cardiac tissue in 11 trisomy 21 and 4 trisomy 18 fetuses. Densitometric analysis of the Northern and slot blots was used to determine the steady state levels of expression of calcium ATPase and the values from the trisomic fetuses were compared to those of 30 normal controls at 10-18 weeks. Calcium ATPase gene expression did not change significantly with gestation at 10-18 weeks. In trisomic fetuses there was no significant decrease in calcium ATPase expression and expression levels of calcium ATPase were not related to increased nuchal translucency. However, the levels expressed in fetuses are already very low and cardiac dysfunction as a potential etiological factor cannot be excluded.
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PMID:Cardiac expression of sarcoplasmic reticulum calcium ATPase in fetuses with trisomy 21 and trisomy 18 presenting with nuchal translucency. 943 Feb 6


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