We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Hypertrophic cardiomyopathy—genetic causes and ethical challenges for clinical care.
- Authors
Dent, Timothy; Skirton, Heather
- Abstract
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young adults and often occurs without warning as the primary disease event. The autosomal dominant inheritance pattern precipitates a 1:2 (50%) chance of being affected for future generations, with a diagnosis being synonymous with a spectrum of cardiac pathologies. The locus heterogeneity of HCM affects the cardiac sarcomere resulting in increased risk of cardiovascular death, stroke and the decompensation of left-ventricular function. Recent government initiatives recognise the NHS as instrumental in effective care in this inherited condition, with emphasis placed on responsiveness and a patient-focused approach. Widening public interest in genetics and advances in genome sequencing have seen the emergence of presymptomatic testing, which raises many ethical questions. The confidential nature of genetic information potentially denies other family members access to genetic testing and early clinical screening that could be vital to diagnosis. Genetic counsellors play a vital role in the consultation, education and communication of genetically inheritable diseases, often acting as mediators to multiple members of the same family. But the inherited cardiovascular conditions team needs to play the central role in providing a comprehensive service with the aim of eliminating the experience of such tragic premature deaths.
- Subjects
UNITED Kingdom; HYPERTROPHIC cardiomyopathy; CARDIOVASCULAR system; COMMUNICATION; FAMILIES; GENETIC counseling; CARDIAC patients; MEDICAL care; NATIONAL health services; GENETIC mutation; PHENOTYPES; GENETIC testing; FAMILY history (Medicine); GENETIC privacy; GENOTYPES; SYMPTOMS; ETHICS; GENETICS; PSYCHOLOGY; PREVENTION; DIAGNOSIS
- Publication
British Journal of Cardiac Nursing, 2014, Vol 9, Issue 9, p436
- ISSN
1749-6403
- Publication type
Article
- DOI
10.12968/bjca.2014.9.9.436