Living with long QT syndrome: a qualitative study of coping with increased risk of sudden cardiac death

J Genet Couns. 2008 Oct;17(5):489-98. doi: 10.1007/s10897-008-9167-y. Epub 2008 Aug 22.

Abstract

Long QT syndrome (LQTS) is a congenital disorder associated with increased risk of sudden cardiac death; LQTS patients and their families are offered diagnostic or predictive genetic testing. The purpose of this qualitative study was to investigate the psychosocial aspects of living with LQTS, to identify LQTS patients' daily life challenges and coping strategies, and to describe their experiences with healthcare services. In-depth interviews were conducted with seven individuals who had been tested for long QT genetic mutation. Four of these participants had an implantable cardiac defibrillator (ICD). The participants reported that early and gradually acquired knowledge of the syndrome was an advantage. They also reported experiencing worries and limitations in daily life, but their main concern was for their children or grandchildren. Healthcare providers' minimal knowledge of LQTS resulted in uncertainty, misinformation, and even wrong advice regarding treatment. The results suggest that regional centers, with the appropriate expertise, should investigate and counsel LQTS patients and their families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptation, Psychological*
  • Adult
  • Aged
  • Death, Sudden, Cardiac*
  • Female
  • Humans
  • Internal-External Control
  • Long QT Syndrome / psychology*
  • Male
  • Middle Aged
  • Norway
  • Pregnancy
  • Risk Factors
  • Trust
  • Uncertainty