RT Book, Section
A1 Lalani, Seema R.
A1 Ware, Stephanie
A2 Kline, Mark W.
SR Print(0)
ID 1182931465
T1 Genetics of Congenital Heart Disease
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182931465
RD 2024/04/19
AB Congenital  heart  disease  (CHD)  is  one  of  the  most  prevalent  causes  of  mortality  among  US  born  infants  and  a  significant  source  of  global  economic  burden,  affecting  almost  1%  of  all  live-born  infants.  The  estimate  of  CHD  in  aborted  fetuses  is  even  higher,  reaching  up  to  10%.  The  underlying  causes  of  CHD  are  varied  and  can  include  cytogenetic  abnormalities,  single-gene  disorders,  epigenetic  alterations,  environmental  etiologies,  or  most  commonly,  multifactorial  etiologies.  Large-scale  epidemiologic  studies  suggest  that  a  genetic  or  environmental  cause  for  CHD  is  identifiable  in  approximately  20%  to  30%  of  cases.  Infants  with  CHD  are  considered  to  have  syndromic  conditions  based  on  the  findings  of  multiple  congenital  anomalies  or  neurodevelopmental  delays.  The  distinction  between  syndromic  and  nonsyndromic,  or  isolated,  CHD  can  be  subtle,  leading  to  lack  of  recognition  of  syndromic  cases.  In  addition,  as  genetic  diagnostic  modalities  have  become  more  sophisticated,  the  spectrum  of  genetic  syndromic  conditions  has  expanded,  and  therefore,  previous  assessments  of  syndromic  cases  may  represent  an  underestimate.