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)

A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.
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PMID:Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 766 99

The anaesthetic management of a 5-month-old Chinese infant with Rubinstein-Taybi syndrome requiring bilateral inguinal hernia repairs is described. This is a rare congenital syndrome characterised by mental retardation, broad thumbs and first toes, craniofacial abnormalities, recurrent respiratory infections and, in one third of cases, congenital heart disease. General anaesthesia combined with caudal block was successfully used. The main complications encountered were minor difficulties with intubation and easily precipitated episodes of oxygen desaturation.
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PMID:Anaesthesia in an infant with Rubinstein-Taybi syndrome. 770 43

The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.
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PMID:Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 1060 22

We performed magnetic resonance imaging (MRI) on the brain and neurologic examinations on 23 children after open heart surgery for congenital heart disease. Twenty children also had psychometric assessments. Examinations were performed at a mean age of 66 months (range, 26 to 180 months). Age at operation was less than 1 month in 43% and more than 6 months in 45%. Abnormal scans were found in 17 (74%) and showed diffuse findings consistent with hypoxic-ischemic encephalopathy, with or without areas of cortical infarction; focal cortical infarction alone; and (in one patient) callosal agenesis and abnormal neuronal migration. Normal IQ and neurologic examinations were found in all six of those who had a normal MRI, and five of six children with changes consistent with focal cortical infarction without diffuse change had a normal neurologic examination. Cerebral palsy and mental retardation was common in the group with diffuse abnormality (in eight of nine children), and this was more likely to occur in those who underwent prolonged (> 45 minutes) hypothermic circulatory arrest and operation during early infancy (P = .004). Focal cortical findings without diffuse changes were more likely in those who underwent open heart surgery without hypothermic circulatory arrest and were older than 6 months at operation, and these children were less likely to have frank neurodevelopmental sequelae. Thus, in our population, focal cortical lesions were common after open heart surgery, and, in addition, diffuse brain abnormality on MRI plus neurologic sequelae were common after prolonged hypothermic circulatory arrest.
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PMID:Long-term MRI changes in brain after pediatric open heart surgery. 782 31

The CHARGE association was described as a cluster of multiple congenital defects by Pagon et al in 1981. The underlining cause of this association is not yet clear. These defects include coloboma of the eye tissues (C), heart disease (H), atresia choanae (A), retarded growth and development and/or CNS anomalies (R), genital anomalies (G), ear anomalies and/or hearing loss (E). Here we report a case of CHARGE association in a 15-year-old female patient. She presented with unilateral ptosis and coloboma of the iris, choroid and retina, patent ductus arteriosus, growth and mental retardation, unilateral ear deformity and a hearing loss. A total of 124 cases have been reported up to now in the literature. We also discuss the frequency of the respective clinical symptoms and signs, and the leading causes of misdiagnosis. We emphasize the importance of ophthalmology and ENT consultations whenever a patient is noted to have multiple congenital anomalies, especially when a cardiac defect is present. Early diagnosis and treatment are essential for this rare association.
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PMID:[CHARGE association: report of a case with literature review]. 790 67

The quality of life of adolescent patients with congenital heart disease (CHD) who have not undergone intracardiac repair was investigated by assessing the physical activity, complications, and the educational and occupational status of 69 patients (32 males and 37 females, average age 18 +/- 2 years) who had graduated from junior high school by April 1993. Group A consisted of 54 patients with mild CHD (small left-to-right shunt disease, mild aortic stenosis and/or regurgitation, and other CHD) who reported to have no symptoms. Group B consisted of 15 patients who complained of restrictions on physical activity associated with CHD (Eisenmenger syndrome, and CHD complicated with pulmonary atresia or severe pulmonary stenosis). All group A patients were in NYHA class I, and none had had serious complications due to CHD. Their heart condition had not been a disadvantage in terms of educational and occupational opportunities after graduation from junior high school. All group B patients in NYHA class II had reduced physical activity. Eleven patients suffered from complications associated with CHD, such as brain abscess, infective endocarditis, Down syndrome, supraventricular tachycardia, brain infarction, hemoptysis, mental retardation associated with conotruncal anomaly face syndrome, and I degree AV block without symptoms. Two remained at home after graduation from junior high school, and four after high school. Only two of 15 obtained full time jobs after graduation from high school. About half of the patients with symptomatic CHD are unable to participate actively in society since graduation from junior high or high school.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Adolescent congenital heart disease: quality of life in patients not undergoing intracardiac repair]. 793 75

Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term consequences to offspring is unclear. In an international survey we have obtained information about 86 mothers with MHP (blood phenylalanine 167-715 mumol/L), their 219 untreated pregnancies, and 173 offspring. Spontaneous fetal loss (13% of pregnancies), congenital heart disease (2.3% of offspring), and severe non-cardiac anomalies (2.9% of offspring) occurred at frequencies within expected limits for the general population. For weight and length at birth the median percentile was the 50th but that for birth head circumference was the 25th. Median z-scores for birth length and head circumference were significantly lower for offspring of mothers with phenylalanine concentrations above 400 mumol/L than for those whose mothers had lower values (p = 0.05 and p = 0.005, respectively). The median intelligence quotient (IQ) of the offspring (3-27 years) was 100 for those whose mothers had higher phenylalanine concentrations and 108 for those of the lower phenylalaninaemia group. However, offspring IQ correlated slightly more closely with maternal IQ (r = 0.53, p < 0.001) than with maternal phenylalanine concentration (r = 0.45, p = 0.02). Maternal MHP does not seem to have serious consequences for the fetus. A maternal phenylalanine concentration of less than 400 mumol/L does not warrant intervention. Nevertheless, maternal blood phenylalanine above this value is associated with slightly lower birth measurements and offspring IQ than lower maternal blood phenylalanine concentrations.
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PMID:Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome. 784 32

We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.
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PMID:[Williams syndrome. Considerations on an unusual case]. 802 98

Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, microcephaly and congenital heart defects in nonphenylketonuric offspring. Dietary control with a low phenylalanine diet during the gestation period is effective in improving perinatal outcome in these cases. We present the case of a 27-year-old woman with classical features of PKU who had previously given birth to three babies, all of whom died of congenital heart disease. A low phenylalanine diet was started one month prior to the pregnancy and satisfactory fetal outcome was achieved.
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PMID:Successful management of a pregnancy with maternal phenylketonuria: report of a case. 810 49

We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families.
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PMID:Adams Oliver syndrome: a family with extreme variability in clinical expression. 816 Jul 31


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