Evolution of a genetic diagnosis. (20th December 2013)

• Record Type: Journal Article
• Authors: Laksman, Z.; Dulay, D.; Gollob, M.H.; Skanes, A.C.; Krahn, A.D.
• Is Part Of: Clinical genetics. Volume 86:Number 6(2014:Dec.)
• Page Start: 580
• Page End: 584
• Publication Date: 2013-12-20
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12320
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12320-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12320-para-0001">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.</p> </abstract>