Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death Genotype-Phenotype Intersection

Research output: Contribution to journalReview article

7 Scopus citations

Abstract

Several monogenic cardiac disorders are associated with sudden cardiac death. These include primary electrophysiological disorders (long QT, short QT, Brugada, and catecholaminergic ventricular tachycardia syndromes) and cardiomyopathies, including hypertrophic and dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. This review presents the genotype-phenotype relations in these diseases. In addition to establishing a diagnosis, imaging can play an important role in identifying the pathophysiological abnormalities and hence the potential to guide therapy in some patients. Furthermore, imaging findings in some patients add incremental prognostic information for risk stratification of sudden cardiac death. Finally, along with genetic testing, imaging is important for screening and, in some cases, can identify subjects with positive mutations who have not yet developed the classical phenotype.

Original languageEnglish (US)
Pages (from-to)828-845
Number of pages18
JournalJACC: Cardiovascular Imaging
Volume8
Issue number7
DOIs
StatePublished - Jul 1 2015

Keywords

  • cardiomyopathy
  • genetic testing
  • hypertrophic
  • imaging
  • sudden death

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

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