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)

Cat's eye syndrome is a very rare disease with many congenital anomalies. Until the end of 1983, 35 cases had been reported, but only 5 cases were associated with cleft palate, and only 1 patient was operated on. A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome. The patient did not have anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, or renal or skeletal anomalies. The operation was performed on his cleft soft palate when he was 2.5 years old.
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PMID:Cat's eye syndrome with cleft soft palate. 385 14

Forty-six patients with two or more features of the VATER association admitted to the Mackay Memorial Hospital from May, 1983 to Mar, 1992 were retrospectively enrolled in this study. We compared the incidence of major features with that reported in the literature. Imperforate anus, congenital heart disease, and renal anomalies were the three most common major features in our study. Thirteen patients died. Heart failure was the major cause of mortality. We noted many patients associated minor features, and among them there was a relatively high ratio of cleft lip, cleft palate, and hypospadius. The overall outcome and development were good among the survivals. We suggest that children who have any congenital anomaly included in the VATER association should get a careful examination and evaluation of their heart, genitourinary tract, limbs and vertebrae. Early correction if possible is indicated in such patients.
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PMID:The VATER association: analysis of forty six cases without karyotyping. 777 43

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

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

CHARGE association is a non-random constellation of Coloboma, Heart Disease, Atresia of the choana, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness. We report on a newborn with CHARGE association. In addition to the typical features our case presented anal atresia and rectovaginal fistula. Our patient had congenital cardiopathy and feeding problems and died at the age of 3 months. Most case of CHARGE association appear to have a primary defect of pharyngeal incoordination that cause aspiration of secretion that is an important cause of death in the nonsurvivors.
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PMID:[CHARGE association: report of a clinical case with anal atresia and rectovaginal fistula]. 959 89

53 female patients who informed the obstetrician about their cardiological problems were examined. In 44 cases the heart defects were diagnosed, in 39 cases of the congenital origin. In 20 patients the shunt congenital heart disease were recognized, in 13 cases the valvular defects, in 6--Fallot Syndrome and in the single cases tricuspid atresia, pulmonary atresia, Ebstein anomaly were observed. The next 9 patients were diagnosed as: in 4 cases hyperthrophy cardiomyopathy, in 2 cases the post myocarditis status, in 2 cases complete atrioventricular block and in 1 case WPW syndrome. The analysed women were pregnancy together 98 times, finished the delivery in 86 times. The physiological delivery were observed in 53 cases. 3 neonates died in the first day of live, 6 children were born prematured. Among 83 newborns who alived 7 required intensive care. The congenital heart diseases was diagnosed in 4 children--the atrial septal defect, pulmonary stenosis, coarctation of the aorta and mitral valve malformation were seen. Two children of the mothers with hyperthrophy cardiomyopathy have the same cardiological problems. The child of mother with congenital aortic stenosis suffered from the anal atresia and agenesis of the kidney.
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PMID:[Reproduction problems in women with cardiovascular diseases]. 1114 32

We report on a consanguineous Turkish family whose first son died of anal atresia and whose second son presented with severe pre- and post-natal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and rhabdomyosarcoma in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.
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PMID:657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 1212 93

Hydrometrocolpos is cHaracterized by a vaginal obstruction with cystic dilatation of uterus and vagina caused by accumulation of cervical and endometrial mucus. It could be in association with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, cardiopathy or autosomal recessive disorder. The appropriate prenatal detection with the help of prenatal ultrasonography differential diagnosis and early treatment and prevention of complications.
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PMID:[Hydrometrocolpos: prenatal diagnosis. A case report]. 1214 62

Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.
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PMID:Rare manifestations of sirenomelia syndrome: a report of five cases. 1547 30

FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic facial features, severe constipation, and few if any congenital malformations. Thus far, five separate loci have been identified on the X chromosome but attempts at finding the responsible gene have not yet been successful. Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome. Indeed, a previously unreported FLNA missense mutation (P1291L) was detected in our patient with FG syndrome, thus supporting this hypothesis and indicating that FG syndrome could now be added to the list of Filamin A-related disorders. Filamin A studies in other children with FG syndrome would help to confirm this association.
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PMID:Filamin A mutation is one cause of FG syndrome. 1763 75


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