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)

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.
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PMID:Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography. 293 23

We report about 6 infants with serious respiratory disease who revealed a tracheal bronchus on bronchoscopic or bronchographic examination. In two of these children this finding seemed to be the main problem; it could be cured by surgical or conservative therapy. The course of the further 4 children's disease was determined by additional serious malformations (Oesophageal atresia, congenital heart disease, anomalies of the pulmonary arteries). In these cases, the tracheal bronchus did not influence the clinical course significantly.
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PMID:[Clinical relevance of the tracheal bronchus]. 336 9

The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.
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PMID:A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations. 405 63

Two neonates with esophageal atresia and agenesis of the right lung are described. Review of the literature on the subject revealed an additional 11 cases of esophageal atresia associated with severe pulmonary hypoplasia. All of the affected infants died. Half of the deaths were caused by congenital heart disease, and the others were due to prematurity combined with various other severe anomalies and respiratory complications.
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PMID:Esophageal atresia with pulmonary agenesis. 664 7

Seventeen cases of choanal atresia are presented, of which 13 were female and 4 male. In 11 patients the malformation was bilateral, being unilateral in the remaining 6; 8 patients also presented other malformations amongst which esophageal atresia and congenital heart disease were the most common. Treatment is surgical, and the prognosis depends largely on the presence or absence of associated malformations.
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PMID:Choanal atresia. Report of seventeen cases. 665 84

Twelve of forty patients (30%) treated for esophageal atresia at the Children's Memorial Hospital in Chicago between June 1976 and May 1980 required a circular esophagomyotomy with or without upper pouch bougienage to achieve an anatomical repair. Ten patients had a distal tracheoesophageal fistula; 1 had a proximal fistula as well; and 2 had no fistula. Over 40% of the patients were small for gestational age. One half had severe associated anomalies including congenital heart disease in 1/3 and the VATER association in 1/4. Three patients died, all from congenital heart disease. Immediate complications in 6 patients included anastomotic leaks (3), tracheal injuries (2), and mucosal entry at the myotomy site (1). Late complications included symptomatic gastroesophageal reflux (60%), anastomotic strictures (40%), and severe tracheomalacia requiring long-term tracheotomy (20%). Altered esophageal motility (77%) contributed to poor weight gain (less than 3rd percentile) in most patients. In spite of these complications, satisfactory results were achieved in 8 of the 9 long-term survivors. The ninth patient had a turbulent neonatal period and has persistent swallowing difficulties at 36 mo follow-up. Although an anatomical repair can now be achieved in all patients with esophageal atresia utilizing bougienage and myotomy, some ill neonates may be better served by traditional staging techniques.
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PMID:Circular esophagomyotomy for primary repair of long-gap esophageal atresia. 725 42

Fifty-seven babies were surgically treated for esophageal atresia and tracheoesophageal fistula between 1968 and 1978. Forty-eight (84%) had proximal esophageal atresia and a distal tracheoesophageal fistula, 2 (4%) had proximal and distal esophageal atresia and no tracheosophageal fistula, and 7 (12%) had a tracheosophageal fistula without esophageal atresia. Primary repair was accomplished in 43 patients (75%), colon interposition was required in 5 (9%), while the remainder had staged or palliative reapirs. Forty-six (81%) survived surgical treatment. All 21 babies in Waterston Category A, 90% of 20 in Category B, and 44% of 16 in Category C survived surgical treatment. Serious complications occurred in 17 (30%), and dilatable strictures and other minor problems developed in 27 (47%). Late follow-up (mean, 48 months) revealed 3 (7%) late deaths, 2 of which were due to congenital heart disease. Three patients required late colon interposition, and several require frequent dilatations of the esophagus. The Category A and B survivors are all functionally well, while the 5 surviving Category C patients are all significantly impaired by associated anomalies.
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PMID:Esophageal atresia and tracheoesophageal fistula. 736 30

This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants were ascertained by ECLAMC from almost 3,000,000 births examined from 1967 through 1990. Observed association rates among VACTERL components as well as between VACTERL and other defects were compared against randomly expected values obtained from 10,084 multiply malformed infants (casuistic method) from the same birth sample. Conclusions were: 1) Cardiac defects are not a part of VACTERL. 2) Single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies that are secondary to VACTERL components (intestinal and respiratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an "extension" of VACTERL, and cardiac defects should be included in this category. 3) Neural tube defects are negatively associated with VACTERL which could not be explained by selection bias or any other operational artifact. High embryonic lethality or mutually exclusive pathogenetic mechanisms could be suitable explanations. 4) Results were not clear enough to determine whether VACTERL should be defined by at least two or three component defects.
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PMID:VACTERL association, epidemiologic definition and delineation. 882 30

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15

Hydrocolpos is characterized by a vaginal obstruction with cystic dilatation of the vagina. The latter is usually caused by accumulation of cervical and endometrial mucus but in rare instances urine is accumulated through a vesicovaginal fistula proximal to the obstruction. Hydrocolpos and hydrometrocolpos may be associated with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, and cardiopathy. Each neonate presenting with hydrocolpos should be evaluated for other clinically silent malformations, such as hamartoblastoma of the hypothalamic region. We report a patient with urinary hydrocolpos and cloacal malformation; it is the first case of hydrocolpos with pre-axial polydactyly. We briefly describe embryogenesis of the different types of vaginal obstruction and discuss prenatal and neonatal diagnosis and differential diagnosis.
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PMID:Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos. 956 27


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