Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.
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PMID:Trisomy 9 syndrome. 91 38

In order to facilitate for the general physicians the making of a suitable selection of babies who are in the most urgent need of specialized treatment at cardiac centres, simple methods for diagnosing and qualifying congenital cardiovascular diseases were elaborated. The following "minor" criteria were taken for suspecting a CHD: 1) cardiorespiratory distress following birth, 2) sequentially repeated Apgar score below normal, 3) "pneumonia" symptoms with respiratory distress, dyspnoea and cyanosis, attacks of unconsciousness, 4) feeding difficulties, failure to thrive, inexplicable irritability, 5) presence of other congenital anomalies. The almost certain presence of serious heart disease should be recognized in children, showing the following "major" symptoms: 1) permanent cyanosis, pallor or greyish colour, 2) cardiorespiratory failure (resembling usually symptoms of pneumonia), 3) ECG patterns indicating ventricular hypertrophy signs, 4) other significantly abnormal ECG patterns (e.g. AV and intraventricular conduction disturbances), 5) cardiac enlargement and lung vascularity abnormalities in chest X-rays, 6) weak, or impalpable arterial, particularly femoral pulses, femoral arterial pressures significantly lower, than at upper extremities, bounding pulses and high-pressure amplitude in arms and legs, 7) abnormal heart sounds and pathologic heart and vascular murmurs. A diagnostic "key", based upon evaluation of the "major criteria" facilitates the diagnosis and differentiation of the most important CHD's at neonatal and infantile age. When using this "key" one should keep in mind the relative frequency of incidence of particular lesions. The initial diagnoses by the above "key" were verified in 354 patients by cardiovascular catherisation, angiocardiography, surgical exploration, and for by autopsy. The diagnoses were perfectly accurate in 83.6% cases, in further 11.3% cases being also accurate but were supplemented by some details, and had to be corrected in only 5.1% cases.
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PMID:[Congenital heart diseases in newborns and infants; early detection, differentiation and accuracy of clinical diagnoses (author's transl)]. 122 66

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
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PMID:Liveborn trisomy 22: report of one case. 151 17

Failure to thrive (FTT) in infants with congenital heart disease (CHD) can be attributed to their low energy intakes and high resting energy expenditures. Energy intake, energy expenditure and growth were studied in infants with CHD on normal formula feeds and then on feeds supplemented with glucose polymer to see whether supplementation improved energy retention and growth. Mean gross energy intakes increased by 31.7% on high-energy feeding and mean weight gain improved from 1.3 g/kg per d on control to 5.8 g/kg per d on high-energy feeding. Resting oxygen consumption (VO2 ml/kg per min) was not significantly different on the two feeding regimens, although respiratory quotient rose on high-energy feeding reflecting the increased carbohydrate intake. Estimated energy costs of growth on high-energy feeding fell within the previously described range for normal infants. It is recommended that infants with CHD known to be associated with FTT are fed on high-energy diets from the time of diagnosis in order to optimize growth.
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PMID:The effects of high-energy feeding on energy balance and growth in infants with congenital heart disease and failure to thrive. 204 99

Nineteen children with clinical diagnoses of renal tubular acidosis were followed for periods ranging from 3 months to 20 years. Twelve patients had Type 1 renal tubular acidosis, five had Type 2, and two had Type 4. No sex predilection was found for any one of the types. Most patients had been diagnosed before 18 months of age, with failure to thrive the most common presentation. Tachypnea, polydipsia, polyuria, and vomiting were frequent symptoms. Some of these children had associated renal hypoplasia, vesicoureteral reflux, unilateral renal agenesis, glomerulocystic disease, adult polycystic kidney disease, and cyanotic congenital heart disease. Urinary anion gap may be useful for differential diagnosis of altered distal urinary acidification from other hyperchloremic metabolic acidosis. Furosemide test may need further investigation. Inability to raise urine to blood pCO2 gradient is helpful for diagnosis of Type 1 renal tubular acidosis. Hypokalemia, hypocalcemia, hypophosphatemia, decreased tubular reabsorption of phosphate, and hypercalciuria occurred in some patients. Complications included rickets in two, nephrocalcinosis in one, and episodic hematuria in one. There was relative bicarbonate wasting in children with Type 1 renal tubular acidosis, with a mean therapeutic bicarbonate requirement of 4.4 +/- 2.6 meq/kg/day. The mean bicarbonate dose for patients with Type 2 renal tubular acidosis was 8.3 +/- 2.6 meq/kg/day. Most children had good response to treatment with complete catch-up linear growth in 13, improved growth in 4, and continuing poor growth in 2. Two patients died during follow-up. Two other patients maintained normal growth without medication.
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PMID:Renal tubular acidosis in childhood. 226 80

In an effort to delineate the clinical characteristics of respiratory syncytial virus (RSV) infection in the compromised host, we compared children with bronchopulmonary dysplasia (BPD), congenital heart disease (CHD), premature birth, failure to thrive, and gastroesophageal reflux to previously healthy children. During a four-year period, 262 patients were admitted to the hospital with RSV infection diagnosed by a rapid RSV antigen detection test. Children with BPD or CHD had more hospital days and supplemental oxygen days than the previously healthy group (P less than 0.05). Patients with BPD also had more ICU days, ventilator days, and NPO days, as well as a higher physiologic stability index and therapeutic intervention score than the previously healthy group (P less than 0.05). Premature infants were more likely to present with apnea from RSV (P less than 0.001). Patients with underlying illness tended to be older, although significant difference was demonstrated only for the BPD group (7.0 +/- 5.3 vs. 3.5 +/- 3.3, P less than 0.05). Patients with BPD and CHD had more nosocomial infections than the previously healthy group (P less than 0.0001) and death occurred only in patients with underlying illness. We conclude that previously compromised patients are at risk for more severe and prolonged RSV disease. Earlier diagnosis and therapeutic intervention may be necessary in such patients to improve outcome.
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PMID:Clinical characteristics of respiratory syncytial virus infections in healthy versus previously compromised host. 279 31

The case of an infant with a complete cleft of the primary and secondary palate (class III) and right unilateral complete cleft lip who demonstrated failure to thrive due to a primary congenital cardiac fibroma is described. This tumor required cardiac transplantation for effective treatment. A review of the literature, although replete with associations of cleft lip/palate and congenital heart disease, does not reveal a congenital cardiac tumor/orofacial cleft association or syndrome. Failure to thrive, however, which is common in such infants, may well be associated with congenital cardiac anomalies and should be carefully ruled out. Treatment of cardiac fibromas is discussed along with the usefulness of two-dimensional echocardiography and the importance of the team approach in the management of these infants.
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PMID:Congenital cardiac tumors in association with orofacial clefts. 329 38

The effect of congenital heart disease on growth is reviewed. Whether being small matters is questioned, and reasons why infants with congenital heart disease are small are discussed. Methods of improving growth, and catch-up growth are described. Finally management of the child with CHD and failure to thrive is considered.
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PMID:Food, growth and congenital heart disease. 332 17

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
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PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.
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PMID:Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome. 397 42


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