Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot

Abstract

Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc.

The 30-Year Outcomes of Tetralogy of Fallot According to Native Anatomy and Genetic Conditions

“…It is accepted that TOF subjects with pulmonary atresia (PA) or those with a concomitant genetic condition have poorer outcomes. [7][8][9][10][11] However, the impact of the native anatomy and that of genetic syndromes has mostly been measured on relatively small populations with short-term follow-ups. Studies have often reported the impact of these conditions on outcomes as relative ratios compared with classic TOF, but long-term survival and expected numbers of cardiovascular interventions and hospitalisations stratified for these specific TOF subgroups have seldom been reported.…”

“…Nevertheless, approximately one-fifth of TOF subjects are born with PA and 28% to 39% with a concomitant genetic condition. 7,8,[11][12][13] To provide adequate counselling to families facing a new diagnosis of TOF, we need long-term outcomes based on information available in the perinatal period. Such outcomes should be based on robust real-world observational data from a large unselected population followed from birth to adulthood and stratified for clinical variables accessible at the time of diagnosis.…”

“…8,[11][12][13] The reported prevalence of 22q11 deletions ranged from 21% to 40% for TOF-PA subjects and from 8% to 25% for cTOF subjects, whereas we found a prevalence of 13% for TOF-PA subjects and 6% for cTOF subjects. 7,8,13,22,23 The difference may be explained by the selection of more complex cases in studies from high-volume tertiary centres and by variation in the rate of termination of pregnancies among fetuses with TOF and a concomitant genetic condition. The proportion of T21 in our sample was, however, similar to what has been previously reported.…”

“…The proportion of T21 in our sample was, however, similar to what has been previously reported. 7,8 Influence of TOF types and genetic conditions on survival Most authors have reported lower short-term survival in subjects with TOF-PA and genetic conditions compared with nonsyndromic cTOF. [7][8][9]24,25 Others have evaluated longterm survival of TOF [1][2][3][4][5] and have, in general, showed that patients operated on after 1980 had 20-to 30-year survival between 90% and 95%.…”

“…7,8 Influence of TOF types and genetic conditions on survival Most authors have reported lower short-term survival in subjects with TOF-PA and genetic conditions compared with nonsyndromic cTOF. [7][8][9]24,25 Others have evaluated longterm survival of TOF [1][2][3][4][5] and have, in general, showed that patients operated on after 1980 had 20-to 30-year survival between 90% and 95%. Hickey et al 5 found an overall survival of 80% at 30 years for patients operated on between 1960 and 1998, but predicted that survival would be greater than 90% if early mortality was reduced.…”