'The sedentary heart': physical inactivity is associated with cardiac atrophy in adults with an intellectual disability.

BACKGROUND: The cardiac muscle is well regulated in response to changes in loading conditions. This cardiac plasticity has been studied intensively and is well known in trained athletes. Conversely, the mechanisms leading to the opposite response are less clear. The aim of this study was to investigate left ventricular (LV) dimensions in a physically inactive population of adults with an intellectual disability. METHODS: Adults with an intellectual disability with and without Down syndrome (DS) and healthy controls were included (n=182). Echocardiography was performed in all included subjects and physical activity was measured by means of a questionnaire. RESULTS: Physical activity was lower in adults with an intellectual disability compared to controls (p<0.001). In DS, iLVM was significantly lower compared to controls (64 ± 17 g/m(2) vs. 94 ± 17 g/m(2)p<0.001). Non-DS adults with an intellectual disability had higher iLVM (72 ± 16 g/m(2)) compared to subjects with DS, although not significantly different (p<0.08). LV volumes were significantly smaller in adults with DS compared to both controls and non-DS adults with an intellectual disability (p<0.001). Moderate diastolic dysfunction was found in 57% of the adults with an intellectual disability. In 48 children with DS and 79 controls, mean LV end diastolic diameter was not significantly different during childhood. CONCLUSIONS: LV dimensions are significantly smaller in adults with an intellectual disability compared to controls. These findings appear to be lifestyle related as differences become manifest at adulthood and adults with an intellectual disability generally experience a sedentary lifestyle. Presumably, physical inactivity leads to a condition of cardiac atrophy.

Congenital heart defects are under-recognised in adult patients with Down's syndrome.

BACKGROUND: Congenital heart defects (CHD) are common in patients with Down's syndrome; however, patients living in residential centres have not always been screened for CHD in the past. The aim of this study was to investigate the prevalence of CHD in patients with Down's syndrome living in residential centres, and to determine whether cardiac screening should be recommended. METHODS: Between January 2007 and November 2009 Dutch residential centres nationwide were randomly sampled. Medical files of all patients with Down's syndrome were investigated to retrieve documented information on known CHD. Echocardiography was performed on patients with unknown cardiac status. The main outcome measure was the number of newly diagnosed cases of CHD in adult patients with Down's syndrome. RESULTS: Thirty-one centres and 1158 patients were included in the first stage of the study. Overall prevalence of known CHD was 16% (189 defects). Screening was performed in 138 patients without known CHD. In total, 24 new patients (17%) with a CHD were found, of which six patients needed semi-urgent care. Furthermore, 77% of the screened patients had mild to moderate regurgitation in one or more heart valves. Overall prevalence of CHD in adult Down's syndrome patients living in residential centres would be estimated at 33%. CONCLUSIONS: Seventeen per cent of patients with Down's syndrome living in residential centres had undiagnosed CHD, and valvular regurgitation was present in the majority of patients. Cardiac screening is recommended in older Down's syndrome patients, for whom new therapeutic options are available and for prevention of cardiac complications in old age.