BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (Version 5) 1. Between 40 and 50% of babies with Down's syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects.(1.2) 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.(3) 2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome 3. It is essential to establish the cardiac status of every child by age 6 weeks (4..5.6.7.8..9). 4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities (2.8.11) 5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect) will be missed if one of the following courses of action is taken (2.10.12) Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below). or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings. However, even if early investigations are reported as 'n ormal' , if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age. 6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops. 7. It is recognised that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance. 8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.(sample document available) 9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems (13). 10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life (9.14). 11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started. References (Heart disease): 1. Tubman.,TRJ.,Shields,MD.,Craig,BQ.,Mulholland,HC.,Nevin,NC., (1991) Congenital heart disease in Down's syndrome; Two year prospective early screening study. BMJ; 302 : 1425- 1427. 2. Frid,C.,Drott,P.,Lundell,B.,Rasmussen,F.,Anneren,G. (1999). Mortality in Down's syndrome in relation to congenital malformations. J.Int.Disab.Res. 43.3.234-241 3. Amark,K.,Sunnegarth,J (1999) The effect of changing attitudes to Down's syndrome in the management of complete atrioventricular septal defects. Arch.Dis.Ch.81.2. 151-154 4. Chi,TP.,Krovetz,LJ., (1975) The pulmonary vascular bed in Down syndrome. Journal of Pediatrics; 86 ;4: 533-538. 5. Frontera-Izquierdo,P.,Cabezuelo-Huerta,G., (1990) Natural and modified history of atrioventricular canal defect - a 17 year study. Arch Dis. Child., 65 : 964-966. 6. Souden,P.,Stijns,M.,Tremouroux-Wattiez,M.,Vliers,A. (1975) Precocity of pulmonary vascular obstruction in Down's syndrome. Eur.J.of Cardiology 2.4. 473-476 7. Yamaki,S.,Yasui,H.,Kado,H.,Yonenaga,L et al.(1993) Pulmonary vascular disease and operative indications in complete atrioventricular canal defect. J.Thoracic Cardiovascular Surgery. 106. 398-405 8. Taylor,JFN.,(1990) Commentary : Natural and modified history of atrioventricular canal defect - a 17 year study. Arch Dis. Child., 65: 966-967. 9. Committee Report, 1995. Guidelines for optimal medical care of persons with Down syndrome. Acta Paediatrica, 84 : 823-827. 10. Cullen,S.,Ward,OC.,Duff,D.,Denham,B. (1990.) Congenital heart disease in Down's syndrome : Is there a need for a formal screening programme? Ir.J.Med.SC.; 159 : 168. 11. Wren,C.,Richmond,S.,Donaldson,L. (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch.Dis.Child.Fetal Neonatal Ed. 80 F49- 12. Chong,ESF.,Dennis,J.,Archer,N.(1998) The effectiveness of screening for congenital F53heart disease in a 14 year birth cohort of children with Down's syndrome. Proceedings RCPCH annual spring meeting. Arch Dis Ch. 2.63 13. Laughlin,GM.,Wynne,J.,Victoria,BE., (1981) Sleep apnea as a possible cause of pulmonary hypertension in Down syndrome. Journal of Pediatrics : 98; 3; 435-437. 14. Goldhaber,SZ.,Brown,WD.,St. John Sutton,MG., (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down syndrome. JAMA : 258; 13; 1793-1795 Dr Jennifer Dennis (Chairman. DSMIG Surveillance essentials development group) Tel/Fax: 01865-552088 07.10.99