Genomics Precision Diagnostic > Cardiology > Sudden Cardiac Death Precision Panel

Sudden Cardiac Death Precision Panel

Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease. It is an important public-health problem with multiple etiologies, risk factors and changing temporal trends. The overwhelming sadness suffered by families is heightened by the risk many of these deaths confer upon surviving relatives. For those with known cardiac disease, disease-specific therapy and risk stratification are key to reducing sudden cardiac death. Uncovering a definitive cause of death can help relieve the uncertainty as a first step in screening surviving relatives. Increasing knowledge about the molecular mechanisms and genetic drivers of malignant arrythmias have become a key component in achieving a risk stratification system to optimize and personalize patient care.
The Igenomix Sudden Cardiac Death Precision Panel serves as a diagnostic and screening tool ultimately leading to a preventive approach of the disease by risk stratification. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.

Indication

The Igenomix Sudden Cardiac Death Precision Panel is indicated in those cases where there are a series of risk factors that could precipitate SCD including:
- Family history of premature coronary artery disease
- Family history of cardiomyopathy
- Family history of malignant arrythmia
- Family history of SCD
- Personal history of cardiovascular risk factors
  - Smoking
  - Dyslipidemia
  - Hyeprtension
  - Diabetes
  - Obesity
  - Sedentary lifestyle

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis.
Early initiation of treatment in case risk factors are present (smoking, diabetes, dyslipidemia, hyerptension etc)
Early prevention with a multidisciplinary team in the form of preventive ICD placement, pacemaker, pharmacologic therapy, or interventional procedures.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCA12*	Ichthyosis Congenita	AR	100	151 of 153
*ABCC6*	Generalized Arterial Calcification Of Infancy	AD,AR	99	346 of 349
*ABCG5*	Homozygous Familial Hypercholesterolemia		99.81	57 of 57
*ABCG8*	Homozygous Familial Hypercholesterolemia	AR,MU,P	100	64 of 64
*ACAD9*	Familial Acyl-CoA Dehydrogenase Deficiency	AR	100	62 of 62
*ACADL*	Long Chain Acyl-CoA Dehydrogenase Deficiency		100	1 of 1
*ACADVL*	Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl-CoA Dehydrogenase Deficiency	AR	100	329 of 329
*AKAP10*	Cardiac Conduction Defect, Sudden Cardiac Death	AD	92.93	1 of 1
*AKAP9*	Long Qt Syndrome, Brugada Syndrome, Romano-Ward Syndrome	AD	98.34	43 of 46
*AKT1*	Proteus Syndrome, Cowden Syndrome, Meningioma	AD	100	6 of 6
*ALG10B*	Long Qt Syndrome	AD	99.97	2 of 2
*ANK2*	Cardiac Arrhythmia, Ankyrin-b-Related, Romano-ward Syndrome	AD	99.98	130 of 130
*APOB*	Familial Hypobetalipoproteinemia, Homozygous Familial Hypercholesterolemia	AD,AR	99.62	369 of 375
*BAZ1B*	Williams Syndrome		99.05	5 of 5
*CACNA1C*	Brugada Syndrome, Timothy Syndrome, Romano-ward Syndrome	AD	99.8	85 of 85
*CACNA2D1*	Brugada Syndrome, Familial Short Qt Syndrome		99.96	12 of 12
*CALM1*	Long Qt Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	100	12 of 12
*CALM2*	Long Qt Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	98.71	11 of 11
*CALM3*	Long Qt Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	100	5 of 5
*CASQ2*	Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	AD,AR	100	39 of 40
*CAV3*	Familial Hypertrophic Cardiomyopathy, Long Qt Syndrome, Rippling Muscle Disease, Romano-Ward Syndrome	AD	100	50 of 50
*CLCF1*	Cold-Induced Sweating Syndrome, Crisponi Syndrome	AR	100	4 of 4
*CLIP2*	Williams Syndrome		99.99	1 of 1
*CPT1A*	Carnitine Palmitoyltransferase I Deficiency	AR	100	50 of 50
*CRLF1*	Cold-Induced Sweating Syndrome, Crisponi Syndrome	AR	91.53	31 of 33
*CSRP3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	36 of 36
*DES*	Dilated Cardiomyopathy, Myofibrillar Myopathy	AD,AR	99.97	133 of 134
*DNAJC19*	3-a Methylglutaconic Aciduria Type V, Dilated Cardiomyopathy With Ataxia	AR	100	6 of 6
*DPP6*	Familial Paroxismal Ventricular Fibrillation	AD	97.03	23 of 28
*DSC2*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	123 of 124
*DSG2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy	AD	99.38	167 of 169
*DSP*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy, Carvajal Syndrome	AD,AR	99.91	366 of 369
*DTNA*	Left Ventricular Noncompaction	AD	97	10 of 10
*ELN*	Supravalvular Aortic Stenosis, Williams-Beuren Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Williams Syndrome	AD	99.99	95 of 96
*EMD*	X-linked Emery-Dreifuss Muscular Dystrophy	X,XR,G	99.92	NA of NA
*ENPP1*	Generalized Arterial Calcification Of Infancy, Non Insulin-Dependent Diabetes Mellitus, Obesity	AD,AR,MU,P	96.59	73 of 75
*EYA4*	Dilated Cardiomyopathy	AD	100	32 of 32
*FHL1*	X-Linked Reducing Body Myopathy, X-Linked Emery-Dreifuss Muscular Dystrophy	X,XR,XD,G	99.98	NA of NA
*GNAI2*	Familial Ventricular Tachycardia	AD	100	3 of 3
*GPD1L*	Brugada Syndrome	AD	100	14 of 14
*GTF2I*	Williams Syndrome		63.79	NA of NA
*GTF2IRD1*	Williams Syndrome		99.98	1 of 1
*HLA-B*	Takayasu Arteritis	MU	99.55	1 of 1
*IKZF1*	Common Variable Immunodeficiency	AD	99.98	43 of 43
*JUP*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	56 of 56
*KCNE1*	Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Romano-Ward Syndrome	AD,AR	100	53 of 53
*KCNE2*	Familial Atrial Fibrillation, Long QT Syndrome, Romano-Ward Syndrome	AD	100	23 of 24
*KCNH2*	Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome	AD	98.69	908 of 930
*KCNJ2*	Andersen Cardiodysrhythmic Periodic Paralysis , Familial Atrial Fibrillation, Short QT Syndrome	AD	100	93 of 93
*KCNJ5*	Long QT Syndrome, Romano-Ward Syndrome	AD	99.52	21 of 21
*KCNQ1*	Familial Atrial Fibrillation, Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome	AD,AR	93.23	600 of 624
*LDB3*	Dilated Cardiomyopathy With Or Without Left Ventricular Noncompaction Myofibrillar Myopathy, Familial Isolated Dilated Cardiomyopathy	AD	100	60 of 60
*LDLR*	Homozygous Familial Hypercholesterolemia	AD	99.89	1921 of 1996
*LDLRAP1*	Familial Hypercholesterolemia	AR	91.83	18 of 27
*LIMK1*	Williams Syndrome		100	2 of 2
*LMNA*	Dilated Cardiomyopathy, Emery-Dreifuss Muscular Dystrophy, Familial Dilated Cardiomyopathy With Conduction Defect Due To LMNA Mutation	AD,AR	100	619 of 620
*LRP6*	Autosomal Dominant Coronary Artery Disease	AD	100	44 of 44
*MYH7*	Dilated Cardiomyopathy, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy, Familial Isolated Dilated Cardiomyopathy	AD,AR	99.95	1053 of 1054
*MYL2*	Familial Hypertrophic Cardiomyopathy	AD	100	67 of 67
*MYL3*	Familial Hypertrophic Cardiomyopathy	AD,AR	100	42 of 42
*NOS1AP*	Romano-Ward Syndrome		100	4 of 4
*PCSK9*	Familial Hypercholesterolemia	AD	100	96 of 98
*PKP2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Brugada Syndrome	AD	100	306 of 307
*PPA2*	Alcohol-Induced Sudden Cardiac Failure, Infantile Sudden Cardiac Failure	AR	99.95	9 of 9
*PRKAG2*	Familial Hypertrophic Cardiomyopathy, Lethal Congenital Glycogen Storage Disease Of Heart, Wolff-Parkinson-White Syndrome	AD	99.98	61 of 61
*PTEN*	Bannayan-Riley- Ruvalcaba Syndrome, Lhermitte-Duclos Disease, Proteus Syndrome	AD	99.97	609 of 629
*PTPN22*	Insulin-Dependent Diabetes Mellitus, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Granulomatosis With Polyangiitis, Vogt-Koyanagi-Harada Disease	AD	99.67	5 of 5
*RBM20*	Familial Isolated Dilated Cardiomyopathy	AD	96.83	73 of 75
*RFC2*	Williams Syndrome		100	3 of 3
*RYR2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction	AD	99.2	466 of 472
*SCN10A*	Brugada Syndrome, Romano-Ward Syndrome	AD	99.89	96 of 96
*SCN4B*	Long QT Syndrome, Romano-Ward Syndrome	AD	100	11 of 11
*SCN5A*	Familial Atrial Fibrillation, Brugada Syndrome, Dilated Cardiomyopathy, Long QT Syndrome, Progressive Familial Heart Block Type Ia, Sick Sinus Syndrome, Sudden Infant Death Syndrome, Ventricular Fibrillation During Myocardial Infarction, Romano-Ward Syndrome	AD,AR,MU	99.45	929 of 942
*SNTA1*	Long QT Syndrome, Romano-Ward Syndrome	AD	95.66	18 of 18
*SYNE1*	Emery-Dreifuss Muscular Dystrophy	AD,AR	99.99	193 of 193
*SYNE2*	Emery-Dreifuss Muscular Dystrophy	AD	99.94	12 of 12
*TBL2*	Williams Syndrome		96.14	NA of NA
*TECRL*	Catecholaminergic Polymorphic Ventricular Tachycardia	AR	99.48	4 of 4
*TGFB3*	Familial Arrhythmogenic Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	34 of 35
*TMEM43*	Familial Arrhythmogenic Right Ventricular Dysplasia, Emery-Dreifuss Muscular Dystrophy	AD	99.98	26 of 26
*TNNI3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD,AR	100	139 of 139
*TRDN*	Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	AD,AR	98.72	10 of 12
*WAS*	Wiskott-Aldrich Syndrome, X-linked Severe Congenital Neutropenia	X,XR,G	100	NA of NA
*WIPF1*	Wiskott-Aldrich Syndrome	AR	99.79	3 of 3

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J., & Page, R. L. (2018). 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Journal of the American College of Cardiology, 72(14), e91–e220. https://doi.org/10.1016/j.jacc.2017.10.054

Isbister, J., & Semsarian, C. (2019). Sudden cardiac death: an update. Internal medicine journal, 49(7), 826–833. https://doi.org/10.1111/imj.14359

Schwartz, P. J., Ackerman, M. J., George, A. L., Jr, & Wilde, A. (2013). Impact of genetics on the clinical management of channelopathies. Journal of the American College of Cardiology, 62(3), 169–180. https://doi.org/10.1016/j.jacc.2013.04.044 

Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M., Vatta, M., Ware, S. M., & ACMG Professional Practice and Guidelines Committee (2018). Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 20(9), 899–909. https://doi.org/10.1038/s41436-018-0039-z 

Haïssaguerre, M., Derval, N., Sacher, F., Jesel, L., Deisenhofer, I., & de Roy, L. et al. (2008). Sudden Cardiac Arrest Associated with Early Repolarization. New England Journal Of Medicine, 358(19), 2016-2023. doi: 10.1056/nejmoa071968

Refaat, M., Hotait, M., & London, B. (2015). Genetics of Sudden Cardiac Death. Current Cardiology Reports, 17(7). doi: 10.1007/s11886-015-0606-8

Adabag, A. S., Luepker, R. V., Roger, V. L., & Gersh, B. J. (2010). Sudden cardiac death: epidemiology and risk factors. Nature reviews. Cardiology, 7(4), 216–225. https://doi.org/10.1038/nrcardio.2010.3

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Sudden Cardiac Death Precision Panel

Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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