Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down’s Syndrome: An Echocardiographic Study
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Background: Down’s syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associatedwith congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension(PH) in DS. Methods: One hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogramand echocardiogram. Results: CHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 ± 19mm Hg and mean pulmonary artery pressure (MPAP) of 32 ± 11 mm Hg]. Patients with CHD and PH were classified ashaving 1) no shunt (n = 18) with SPAP of 37 ± 9 mm Hg and MPAP of 25 ± 6 mm Hg and 2) with shunt (n = 26) with PASPof 57 ± 29 mm Hg and MPAP of 38 ± 19 mm Hg (p ≤ 0.001). In those without CHD or with CHD without shunt (n = 76), SPAPwas 37 ± 19 mm Hg and the MPAP 25 ± 6 mm Hg. The prevalence of PH in DS was 5.9% at one year and 15% at 10 years. Theodds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD. Conclusion: DS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. Thepathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool forevaluation of DS.
Abstract
Background: Down’s syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associatedwith congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension(PH) in DS. Methods: One hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogramand echocardiogram. Results: CHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 ± 19mm Hg and mean pulmonary artery pressure (MPAP) of 32 ± 11 mm Hg]. Patients with CHD and PH were classified ashaving 1) no shunt (n = 18) with SPAP of 37 ± 9 mm Hg and MPAP of 25 ± 6 mm Hg and 2) with shunt (n = 26) with PASPof 57 ± 29 mm Hg and MPAP of 38 ± 19 mm Hg (p ≤ 0.001). In those without CHD or with CHD without shunt (n = 76), SPAPwas 37 ± 19 mm Hg and the MPAP 25 ± 6 mm Hg. The prevalence of PH in DS was 5.9% at one year and 15% at 10 years. Theodds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD. Conclusion: DS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. Thepathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool forevaluation of DS.
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