RT Book, Section
A1 Ruppel, Kathleen M.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7046558
T1 Chapter 481. Genetics of Heart Disease
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7046558
RD 2024/04/19
AB Most  congenital  heart  defects  (CHDs)  are  due  to  the  interaction  of  genetic  predisposition  with  environmental  influences.  Historically,  evidence  for  a  genetic  contribution  to  CHD  came  from  studies  of  familial  recurrence  and  the  association  of  certain  types  of  CHD  with  specific  chromosomal  abnormalities,  whereas  epidemiologic  data  supported  a  role  for  environmental  factors  as  well.1  More  recently,  our  understanding  of  the  genetic  contribution  to  CHD  has  advanced  significantly,  and  it  is  clear  that  genetics  plays  a  more  important  role  than  previously  understood.  Molecular  genetic  analysis  of  families  with  documented  Mendelian  transmission  of  CHD  has  led  to  the  identification  of  disease-causing  mutations  in  several  cardiac  transcription  factors  and  signaling  molecules.  Studies  of  cardiac  development  in  model  organisms  have  led  to  the  discovery  of  a  number  of  genes  required  for  heart  formation.  Searching  for  mutations  in  these  “candidate”  genes  in  patients  with  familial  or  isolated  forms  of  CHD  has  yielded  insight  into  the  genetic  basis  of  certain  defects.