RT Book, Section
A1 Sturm, Amy C.
A1 Hershberger, Ray
A2 Baliga, R. R.
A2 Abraham, William T.
SR Print(0)
ID 1161015418
T1 Genetic Testing for Cardiomyopathy
T2 Color Atlas and Synopsis of Heart Failure
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9780071749381
LK accesscardiology.mhmedical.com/content.aspx?aid=1161015418
RD 2024/04/18
AB A  36-year-old  Caucasian  woman  was  referred  to  the  Cardiovascular  Genetic  and  Genomic  Medicine  Clinic  for  genetic  evaluation  due  to  her  diagnosis  of  idiopathic  dilated  cardiomyopathy  (DCM)  at  31  years  of  age.  At  that  time  she  had  presented  emergently  to  cardiology  care  in  advanced  heart  failure  (HF)  having  had  progressive  dyspnea  on  exertion  for  several  weeks.  There  was  no  known  trigger  to  her  symptom  onset.  Her  echocardiogram  revealed  a  left  ventricular  end-diastolic  dimension  (LVEDD)  of  7.2  cm  and  a  left  ventricular  ejection  fraction  (LVEF)  of  10%  to  15%.  She  underwent  cardiac  magnetic  resonance  imaging,  which  showed  a  dilated  left  ventricle,  severe  global  hypokinesis,  LVEF  of  19%,  biatrial  enlargement,  minimal  midwall  fibrosis  with  gadolinium  enhancement,  and  no  iron  overload.  She  underwent  emergent  ventricular  assist  device  (VAD)  placement,  was  treated  medically,  and  improved  to  the  point  where  her  VAD  was  explanted  1  year  later.  Since  her  VAD  explant,  she  has  continued  with  full  medical  therapy  and  has  received  close  cardiovascular  surveillance  with  her  HF  cardiologist.  An  implantable  cardioverter  defibrillator  (ICD),  placed  after  her  VAD  was  removed,  has  delivered  no  shocks.  A  follow-up  echocardiogram  revealed  an  LVEDD  of  5.8  cm  with  a  LVEF  of  30%  to  35%.