Cardiogenetic counseling: An overview of results and daily practice after 15 years experience

Nynke Hofman, Iris Kolder, Marielle Alders, Marcel Mannens, Hanno Tan, Irene Van Langen, Arthur Wilde

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Abstract

Introduction: We evaluated the results of 15 years of cardiogenetic counseling in the Academic Medical Center (AMC). Methods: We retrospectively analyzed all families who were counseled between 1996 and 2011 with a suspected inherited arrhythmia syndrome including primary electrical diseases, cardiomyopathies, sudden (aborted) unexplained death (SUD). We analyzed the yield of molecular genetics over time and diagnosis at the moment they were included in our database. In case of counseling because of a SUD in the family, we analyzed the 'outcome' of the counseling and cardiological investigations. Results: Since 1996, 7036 counselees visited the AMC Cardiogenetics department, of whom 6959 are included in this study (n=2313different families (41±19years old, 49% male). In 726 families (31%) a possible disease causing mutation was detected. Most mutations were found in LQTS (50%), HCM (48%) and CPVT (40%) families. The mutation detection rate decreased over time, where the number of referrals importantly increased. Cascade-screening revealed n=1572 mutation carriers. The number of counseled families after SUD was 376. In 25% (n=95) of these families an inherited disease was established (molecular diagnosis in n=67/110(61%), including 15 families in whom the Dutch risk haplotype for 'idiopathic' VF was detected). Conclusions: Although the mutation-yield decreased over time, an important number of disease causing mutations in this large series of patients was detected. Systematic screening of these families identifies many (often asymptomatic) carriers, who can benefit from earlytreatment to prevent complications or SUD. Dedicated cardiogenetics clinics with multidisciplinaryteams are needed for proper interpretation of results of molecular genetics and cascade-screening.
Original languageEnglish
Pages (from-to)S34-S68
Number of pages35
JournalHeart Rhythm
Volume9
Issue number5
DOIs
Publication statusPublished - May-2012

Keywords

  • heart rhythm
  • society
  • counseling
  • mutation
  • screening
  • molecular genetics
  • heart arrhythmia
  • death
  • male
  • university hospital
  • molecular diagnosis
  • data base
  • cardiomyopathy
  • human
  • patient
  • hospital
  • haplotype
  • risk
  • diagnosis
  • diseases
  • catecholaminergic polymorphic ventricular tachycardia
  • long QT syndrome

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