Study of Congenital Heart Defects among Down Syndrome Cases Attending A Tertiary Care Centre

Somasundaram, A (2006) Study of Congenital Heart Defects among Down Syndrome Cases Attending A Tertiary Care Centre. Masters thesis, Madras Medical College, Chennai.


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INTRODUCTION: Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well defined and distinctive phenotypic features and natural history. It is caused by the triplicate state of all or a critical portion of chromosome 21. In 1866, John Langdon Down 1 wrote, “The face is flat and broad and destitute of prominence. The cheeks are round and extended laterally. The eyes are obliquely placed, and the internal canthi more than normally distant from one another. The palpebral fissure is very narrow; the lips are large and thick with transverse fissures. The tongue is long, thick and is much roughened. The nose is small.” This description of the clinical characteristics of the syndrome, which bears his name is a common genetic disorder with an overall incidence of 1in 800 2. All individuals with Down syndrome have extra chromosome 21 material. Children with Down syndrome have multiple malformations and mental retardation due to the presence of extra genetic material from chromosome 21. Although the phenotype is variable, usually there is enough consistency to enable the experienced clinician to suspect the diagnosis. Down syndrome decreases prenatal viability and increases prenatal and postnatal morbidity. Affected children have delayed physical growth, maturation, bone development, and dental eruption. OBJECTIVE OF THE STUDY To determine the incidence and pattern of congenital heart defects in children with karyotypically proved Down syndrome attending a tertiary care centre. DISCUSSION: Congenital heart disease is the common cause for long term morbidity and mortality in Down syndrome. Between 40-50% of babies with Down syndrome have congenital heart defects 28. Of these 30-40% have complete Atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established. The incidence of Congenital heart defects in our present study is 49.1% .Various published studies have reported frequencies ranging from 30-65% 17..Studies by Wells GL 10 et al in the University of Alabama showed an incidence of 48% close to our statistics. In a similar study by Bhatia S 11 et al in the All India Institute of Medical Sciences, New Delhi, the incidence was 44%. The incidence of CHD in Down syndrome varies among geographical areas. The incidence of CHD in our present study is comparable to that conducted in Alabama, Atlanta, France and Saudi Arabia. SUMMARY AND CONCLUSION: 1. Incidence of Congenital Heart defects in Down syndrome is 49.2%. 2. Ventricular Septal defect(34.5%) is the most common CHD followed by Endocardial cushion defect(21.8%). 3. Incidence of CHD is more in a male with Down syndrome(55%) than in a female(42.8%). 4. Down syndrome is due to non-disjunction in 92% of cases and translocation in 7% of cases.1% is due to mosaicism.Percentage of CHD was more in translocation (67%) than due to non-disjunction(49.5%). 5. As the order of birth increases, the chances of being born with a CHD also increases. 6. Advanced maternal age is not only a risk factor for increased incidence of Down syndrome, but also an independent risk factor for CHD.Percentage of CHD when maternal age is above 30 years is 71%.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Study ; Congenital Heart Defects ; Down Syndrome Cases ; A Tertiary Care Centre
Subjects: MEDICAL > Paediatrics
Depositing User: Ravindran C
Date Deposited: 20 Apr 2018 05:47
Last Modified: 20 Apr 2018 05:47

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