RT Book, Section
A1 Lorenzini, Massimiliano
A1 Elliott, Perry M.
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 1202448419
T1 Hypertrophic Cardiomyopathy – Updated June 2023
T2 Fuster and Hurst's The Heart, 15e
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264257560
LK accessmedicine.mhmedical.com/content.aspx?aid=1202448419
RD 2024/04/18
AB Chapter  SummaryThis  chapter  discusses  the  epidemiology,  pathophysiology,  diagnosis,  and  management  of  hypertrophic  cardiomyopathy  (HCM),  a  common  inherited  condition.  In  ~50%  of  cases,  HCM  is  due  to  a  pathogenic  variant  in  a  sarcomere  protein  gene  (see  Fuster  and  Hurst’s  Central  Illustration)  and  is  inherited  as  an  autosomal  dominant  trait  with  incomplete  penetrance.  Phenocopies  should  be  actively  ruled  out  during  diagnostic  work-up.  The  pathophysiology  is  complex  and  consists  of  multiple  interrelated  factors,  including  myocardial  ischemia,  diastolic  (and  rarely  systolic)  dysfunction,  left  ventricular  outflow  tract  (and/or  midcavity)  obstruction  (LVOTO),  mitral  regurgitation,  and  atrial  fibrillation.  Symptoms  related  to  LVOTO  are  managed  medically  in  the  first  instance  but  may  require  invasive  treatment  with  surgical  septal  myectomy  or  alcohol  septal  ablation.  Heart  failure  is  an  important  cause  of  death  and  is  treated  according  to  the  current  standard  recommendations.  Atrial  fibrillation  carries  a  high  thromboembolic  risk  and  mandates  anticoagulation.  Defibrillators  are  the  only  effective  protection  from  sudden  death  in  high-risk  patients.