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)

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

Chromosome 22q11 deletion syndrome is a relatively newly described syndrome that encompasses the majority of patients previously felt to have velo-cardio-facial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome. The disorder is characterized by a deletion of band 11 on the long arm of chromosome 22 most often recognized by fluorescent in situ hybridization (FISH) techniques. Extensive laboratory investigations are currently ongoing to uncover the specific genes involved and their functions. Phenotypically, individuals present with congenital heart disease, palatal abnormalities, facial dysmorphism, and developmental delay, as well as variable degrees of immunodeficiency, hypocalcemia, and endocrine abnormalities. The primary care physician has an important role in caring for these patients and their families. We review the current state of knowledge regarding chromosome 22q11 deletion syndrome, with an emphasis on the clinical presentation and on prevention and treatment of the known complications associated with this multisystem disorder. Chromosome 22q11 deletion syndrome can be inherited in an autosomal dominant fashion or result from a de novo deletion or translocation. Hence, this syndrome may have significant reproductive risks to affected individuals and families.
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PMID:Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. 915 51

CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11. The deletion within the chromosome region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CAFS). In this study, using N25 (D22S75) DiGeorge chromosome region probe. fluorescence in situ hybridization (FISH) analyses were performed on 32 patients with congenital heart diseases. Twenty-nine of 32 patients had conotruncal heart disease. A 22q11 deletion was detected in two patients (6.9%) of the 29 patients with conotruncal heart disease. One of our 22qdel (+) patients had unilateral facial nerve palsy. Although it is not a frequent finding, unilateral facial nerve palsy will be included among the symptoms of CATCH 22 syndrome. After careful clinical evaluation of patients with conotruncal cardiac anomalies, only syndromic cases should be screened for this deletion.
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PMID:Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. 1110 20