Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down's Syndrome: An Echocardiographic Study

Abstract

BackgroundDown's syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associated with congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension (PH) in DS.MethodsOne hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogram and echocardiogram.ResultsCHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 ± 19 mm Hg and mean pulmonary artery pressure (MPAP) of 32 ± 11 mm Hg]. Patients with CHD and PH were classified as having 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 PASP of 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), SPAP was 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. The odds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD.ConclusionDS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. The pathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool for evaluation of DS.

When and why to treat the child who snores?

“…Given that the baseline mean IQ of children with Down syndrome is lower than that of the general population, further impairment may have an appreciable functional impact on everyday functioning. Furthermore, given the inherent risk of pulmonary hypertension in patients with Down syndrome, especially in the presence of congenital heart disease, it is apparent that the timely diagnosis and treatment of OSAS is even more crucial …”

“…Furthermore, given the inherent risk of pulmonary hypertension in patients with Down syndrome, especially in the presence of congenital heart disease, it is apparent that the timely diagnosis and treatment of OSAS is even more crucial. 143…”

Aumento de la mortalidad infantil en niños con síndrome de Down: Chile 1997-2013

“…Desconocemos cuántos niños con síndrome de Down han sido incorporados e intervenidos por la Ley 19.966 que aprueba las Garantías Explícitas en Salud (GES) vigente desde el 31 de enero de 2007 42 . De acuerdo a las guías clínicas del MINSAL 43 , los niños afectados con canal aurículo-ventricular completo, malformación cardíaca más frecuente en SD, deben ser resueltos quirúrgicamente dentro de los primeros 6 meses de vida dado el riesgo de desarrollo precoz de hipertensión pulmonar, insuficiencia cardiaca y muerte 44,45 . Los avances en cirugía cardiaca hacen que el pronóstico de sobrevida en pacientes con SD sea excelente y semejante a los cardiópatas congénitos sin SD 9,21,24,46 , por lo que no se debe postergar a los niños cardiópatas con SD por su condición genética 47 y se les debe ofrecer cirugía oportuna tal como establece el Ministerio de Salud de Chile 42,43 .…”

Clinical Utility of Echocardiography for the Diagnosis and Prognosis in Children with Bronchopulmonary Dsyplasia

“…Severe BPD may result in chronic pulmonary artery hypertension (PAH) and gradual dilatation as well as hypertrophy of the right ventricle (RV)1)2)3)4)5) that can lead to RV dysfunction and right heart failure. It is associated with poor prognosis 3)4)5)6)7)8)…”