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Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations
Author(s) -
Lin Angela E.,
Santoro Stephanie,
High Frances A.,
Goldenberg Paula,
GutmarkLittle Iris
Publication year - 2020
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31760
Subject(s) - aneuploidy , natural history , trisomy , turner syndrome , abnormality , pediatrics , medicine , failure to thrive , prenatal diagnosis , klinefelter syndrome , natural history study , chromosome , pregnancy , genetics , fetus , biology , psychiatry , gene
The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well‐known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY). We also discuss the impact of noninvasive prenatal screening (mainly, cell‐free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a “phenotype” which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision‐making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.