The authors have no conflicts of interest to report.
Evolution of a genetic diagnosis
Article first published online: 20 DEC 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 6, pages 580–584, December 2014
How to Cite
Laksman, Z., Dulay, D., Gollob, M.H., Skanes, A.C. and Krahn, A.D. (2014), Evolution of a genetic diagnosis. Clinical Genetics, 86: 580–584. doi: 10.1111/cge.12320
- Issue published online: 20 NOV 2014
- Article first published online: 20 DEC 2013
- Accepted manuscript online: 14 NOV 2013 10:08AM EST
- Manuscript Accepted: 12 NOV 2013
- Manuscript Revised: 29 OCT 2013
- Manuscript Received: 13 OCT 2013
- inherited arrhythmias;
- sudden cardiac death
Understanding the relationship between genotype and phenotype has become an integral part of the diagnosis and management of patients with inherited arrhythmias and cardiomyopathies. Given the existence of background noise, the majority of genetic testing results should be incorporated into clinical decision making as probabilistic, rather than deterministic, in the diagnosis and management of inherited arrhythmias. This case report captures multiple snapshots of clinical care in the evolution of a diagnosis of a single patient, highlighting the need for repeated phenotypic and genotypic assessment for both the patient and their family.