الفهرس 
Introduction and Aim of WorkOnly 14 pages are availabe for public view
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Abstract
Purpose - Assessement of cardiac condition in genetic syndromes especially those associated with dysmorphic features may be a helpful parameter in diagnosis and direct the attention for further genetic work up to confirm the diagnosis. Introduction Patients with hereditary diseases, such as mucopolysaccharidosis, muscle dystrophy (duchenne), neuro-fibromatosis, osteogenesis imperfecta, tuberous sclerosis, sickle cell anemia, congenital arrhythmias, among others, must have a cardiovascular evaluation not only when the pathology is detected, but throughout life, since structural changes can appear in the course of the disease usually. Congenital heart disease (CHD) is the most common form of human birth defects accounting for about 30% of the total anomalies. The causes for CHD can be categorized into three major groups, chromosomal, single gene disorders and multiple factors. It is found that about 0.4 - 26.8% of all CHD are associated with several chromosomal anomalies like numerical and structural variations .Copy number variations (CNV) are variations in the number of copies of a specific section of DNA present in an individual are another type of chromosomal anomaly. Specific CNV have been associated with diseases such as autism, schizophrenia in the past but recently associated with CHD.Chromosome abnormalities are classified either numerical or structural and may involve more than one chromosome. A numerical chromosome abnormality simply means that a person has a total number of chromosomes different from 46; usually 47 or sometimes 45 chromosomes. An example of a numerical chromosome abnormality is Down syndrome(DS), which is typically caused by having an entire extra chromosome 21, The other type of chromosomal abnormality is structural which means that a portion of the genetic material has been rearranged in an abnormal way. Conclusion: • Any malformed infant and child should be examined completely for the presence of other anomalies which may be subtle • Complete history and genetic counseling should be obtained for families with history of congenital anomalies to detect recurrence risk • Fetal echocardiography is a modality for early diagnosis of fetal cardiac anomalies. It should be performed routinely if recognized maternal or fetal risk factors raise the likelihood of congenital heart disease to allow early treatment, proper time for intervention and avoid morbidity and mortality. • Use of advanced genetic technology for early prediction of cardiac diseases with genetic etiology, and gene therapy to treat some inherited cardiac anomalies.