Congenital polyvalvular disease in trisomy 18: Echocardiographic diagnosis

Abstract

Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes, two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.

Cardiac Defects in 1st-Trimester Fetuses with Trisomy 18

“…Our findings are consistent with those of postnatal échocardio graphie studies in affected neonates and post mortem studies of stillbirths or postnatal deaths (table 2) [1][2][3][4]. The frequency of septal defects (84%) was higher than that observed in 36 fetuses with trisomy 21 (56%) at the same gestational age [11].…”

“…The two echocardiographic studies on tri somy 18 neonates [1,2] reported that in the majority of cases the valvular abnormalities were of no haemodynamic significance. This may offer an explanation for the lack of an obvious association between the overall inci dence of valvular abnormalities and the de gree of nuchal oedema.…”

“…Echocar diographie studies of affected neonates [1,2] and pathological studies of stillbirths and in fants [3,4] have demonstrated a high inci dence of cardiac defects, mostly ventricular septal defects and valvular abnormalities.…”

Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort

“…Its frequency in postmortem (autopsy) and in vivo (echocardiographic) series has been similar and ranged from 45 to 100% (usually above 90%) [Hodes et al, 1978;Moerman et al, 1982;Kinoshita et al, 1989;Balderston et al, 1990;Musewe et al, 1990;Embleton et al, 1996;Niedrist et al, 2006;Pont et al, 2006]. In our study the frequency was in the high side of the range (97%).…”

Cytogenomic Aberrations in Congenital Cardiovascular Malformations

“…CHD is present in more than 90% of all infants with trisomy 18, including VSD and patent ductus arteriosus (PDA). Karyotype analysis is necessary for a definitive diagnosis; however, the presence of polyvalvular disease is a useful adjunct to other clinical assessments [Balderston et al, 1990]. CHD is present in almost 80% of infants with trisomy 13 [Polli et al, 2014].…”