Evolution of a genetic diagnosis.
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.
Department of Cardiac Electrophysiology, Western University, London, Ontario, Canada.
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Z
Laksman
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Dulay
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MH
Gollob
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AC
Skanes
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AD
Krahn
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013610:Tachycardia / Q000235:genetics
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D019837:Ryanodine Receptor Calcium Release Channel
cardiomyopathy; genetics; inherited arrhythmias; sudden cardiac death