Genetics of Sudden Cardiac Death

@article{Barsheshet2011GeneticsOS,
  title={Genetics of Sudden Cardiac Death},
  author={Alon Barsheshet and Andrew J. Brenyo and Arthur J. Moss and Ilan Goldenberg},
  journal={Current Cardiology Reports},
  year={2011},
  volume={13},
  pages={364-376}
}
Advances in genetic testing technology have led to a proliferation of new genetic tests and accelerated developments in the field of cardiovascular genetic medicine. These advances enhance presymptomatic diagnosis and can establish a definitive molecular diagnosis for symptomatic patients at risk for sudden cardiac death. Most importantly, genotype-phenotype correlations can add important information for predicting outcome and selecting treatment for patients with inherited arrhythmic disorders… 
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References

SHOWING 1-10 OF 93 REFERENCES
Narrative Review: Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy
TLDR
The combination of contemporary gene-based diagnosis with new strategies to attenuate disease development and progression is changing the natural history of lifelong cardiac symptoms, arrhythmias, and heart failure from HCM.
Genetics and Clinical Destiny: Improving Care in Hypertrophic Cardiomyopathy
TLDR
By identifying at-risk individuals prior to clinical diagnosis, characterizing disease pathogenesis, and fostering development of novel therapies to delay or prevent phenotypic expression, genetic discoveries will improve the lives of patients with HCM.
Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
TLDR
It is predicted that DCM genetics will become increasingly relevant for genetics and cardiovascular professionals because of the fact that early, even pre-symptomatic intervention can prevent or ameliorate DCM, coupled with more cost-effective genetic testing, will drive further progress in the field.
Long QT Syndrome.
Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
TLDR
This Review summarizes the known genetic mutations associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy, describes possible origins of recurrent mutations, presents theories on the pathogenesis of disease following a mutation, and discusses the current issues surrounding clinical use of genetic analysis in the assessment of individuals with this condition.
Location of Mutation in the KCNQ1 and Phenotypic Presentation of Long QT Syndrome
TLDR
Whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients is investigated.
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria
TLDR
Modifications of the Task Force Criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia represent a working framework to improve the diagnosis and management of this condition.
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.
TLDR
The criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia have been modified to incorporate new knowledge and technology to improve diagnostic sensitivity, but with the important requisite of maintaining diagnostic specificity.
...
...