Increasing incidence of congenital heart disease in patients with Down syndrome

Abstract

Our impression that the incidence of congenital heart disease in patients with Down syndrome was increasing in our outpatient clinic was investigated. The change in the incidence of congenital heart disease was investigated during the period from January 1981 to December 1998 in 196 patients with Down syndrome diagnosed by chromosomal analysis. Of the 196 patients, 99 (50.5%) had congenital heart disease. The incidence increased during study period: 35.4% (1981–1983), 44.9% (1984–1986), 46.4% (1987–1989), 69.0% (1990–1992), 53.8% (1993–1995), and 81.3% (1996–1998). The number and the mean age of new outpatients were found to decrease. The incidence of Down syndrome patients whose disease was chromosomally proven by other institutions was increasing. The incidence of congenital heart disease in patients with Down syndrome is currently increasing in our outpatient clinic. However many factors might contribute to this phenomenon.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico

“…Also, this study (Table ) confirms a lower unusually frequency of AVSDs in Mexico (de Rubens‐Figueroa et al, ; Rodríguez‐Hernández & Reyes‐Núñez, ), previously observed also in Mexican patients with DS born in the US (Freeman et al, ; Khoury & Erickson, ) as well as in other Latin American countries, including Guatemala (Vida et al, ), Colombia (Ruz‐Montes et al, ), and Brazil (Bermudez, Medeiros, Bermudez, Novadzki, & Magdalena, ). Notably, AVSDs in Asian population with DS are also fairly infrequent (Hoe, Chan, & Boo, ; Jacobs, Leung, & Karlberg, ; Jaruratanasirikul, Limpitikul, Dissaneevate, Booncharoen, & Tantichantakarun, ; Kim et al, ; Masaki et al, ; Matsuo, Oshima, Masuyoshi, Shimizu, & Okada, ; Sonoda et al, ; Tan et al, ), indicating an ethnic linkage between this subtype of CHD and Hispanic ethnicity as western Mexican Mestizos have an Amerindian ancestry estimate of 31% (Rubi‐Castellanos et al, ). This common genetic background between Asian and Amerindian populations could explain the likeliness in observed AVSD rates between both populations.…”