RT Book, Section
A1 Rhee, June-Wha
A1 Wu, Joseph C.
A2 Fuster, Valentin
A2 Narula, Jagat
A2 Vaishnava, Prashant
A2 Leon, Martin B.
A2 Callans, David J.
A2 Rumsfeld, John S.
A2 Poppas, Athena
SR Print(0)
ID 1202441437
T1 Genomics And Epigenomics of Heart Diseases
T2 Fuster and Hurst's The Heart, 15e
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264257560
LK accesscardiology.mhmedical.com/content.aspx?aid=1202441437
RD 2024/04/24
AB Chapter  SummaryThis  chapter  discusses  the  genetics  and  epigenetics  of  cardiovascular  disease  (CVD)  (see  Fuster  and  Hurst’s  Central  Illustration).  Following  the  advances  in  deoxyribonucleic  acid  (DNA)  sequencing  technologies,  our  knowledge  of  cardiovascular  genetics  and  epigenetics  has  dramatically  increased.  While  we  previously  understood  the  genetics  of  heart  disease  mainly  in  the  context  of  syndromic  diseases,  caused  by  chromosomal  abnormalities,  and  Mendelian  diseases,  caused  by  single-gene  defects,  we  now  appreciate  the  integral  roles  of  noncoding  genes,  polygenic  mechanisms,  and  epigenetics  in  mediating  heart  disease.  Herein,  we  first  review  conventional  genetic  mechanisms  of  heart  disease,  including  chromosomal  anomaly-related  congenital  heart  defects  and  monogenic  diseases  such  as  genetic  cardiomyopathy,  inherited  cardiac  arrhythmia,  and  familial  hypercholesterolemia.  We  then  discuss  the  evolving  evidence  of  polygenic  mechanisms  in  heart  disease,  presenting  an  example  of  coronary  artery  disease  and  how  polygenic  risk  score  is  used  in  its  risk  stratification.  Next,  we  review  epigenetic  regulation  of  gene  expression  and  discuss  its  role  in  CVD  pathogenesis.  Finally,  we  conclude  by  discussing  a  number  of  emerging  technologies,  including  genome  editing  technologies,  human-induced  pluripotent  stem  cells,  and  advanced  sequencing  and  bioinformatics  technologies,  which  can  further  advance  our  knowledge  of  genetics  and  epigenetics  of  heart  disease.