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Sudden Cardiac Death

Sudden Cardiac Death (SCD)

Sudden cardiac death is the unexpected death that occurs within one hour due to cardiac arrhythmia. It is the main cause of natural death worldwide and 80% is due to ischemic heart disease. There are several definitions based on age, outcome and documentation of the event (see below). When the death occurs before age of 40, inherited causes should be ruled out and an autopsy may be required. If the autopsy is not performed, the case should be labeled as Sudden Unexplained Death Syndrome (SUDS)

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Aborted Cardiac Arrest

Aborted cardiac arrest is the unexpected presence of a potentially lethal cardiac arrhythmia, managed or interrupted properly by the support of a witness trained in cardiac reanimation or by internal cardiac defibrillator. The affected individual restores normal sinus rhythm. If not treated rapidly, patient can develop permanent brain damage. The most common cause is coronary artery disease, but in cases younger than 40 years old, cardiac heritable disorders should be ruled out. When there is a suspicious heritable heart disorder, the genetic test has a yield of ~70%. When the extensive heart evaluation is normal, the genetic test has a yield of less than 20%.

Sudden Arrhythmic Death Syndrome (SADS)

SADS is the sudden arrhythmic death in a victim older than 1 year old in which the autopsy and toxicological investigation are inconclusive. The yield of the genetic test in this population is near 30%.

Sudden Infant Death Syndrome (SIDS)

SIDS is the sudden death in an infant (<1 year old). When the autopsy and toxicological investigation are inconclusive it can be labeled as Sudden Unexplained Death in Infancy (SUDI). The cardiac inherited casues are less prevalent in this subgroup, and the cardiac genetic test is positive in near 10-15% of the cases.

Why to perform genetic testing in cases with SCD?

  • To perform a precise diagnosis
  • To provide specific treatment for the condition detected
  • To detect other family members at risk to have SCD

 

Our Sudden Death panel

 ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASK, CASQ2, CAV3, CRYAB, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, GJA5, GLA, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NOS1AP, PKP2, PLN, PRKAG2, PSEN1, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TRDN, TRPM4, TTN, TTR, VCL.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from the Sudden Death genetic test panel: The yield of the test is variable, for cases older than one year old in which a cardiac phenotype is suspected, either by autopsy or cardiac examination, the yield is up to 70%. For cases in which no cardiac phenotype is identified, the yield is near 20%. For SIDS cases the yield is around 15%.

 

Recommended Literature

  • Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy. Miles et al. Circulation. 2019 Jan 31. doi: 10.1161/CIRCULATIONAHA.118.037230
  • Sudden unexpected death in the young – Value of massive parallel sequencing in postmortem genetic analyses. Scheiper S, et al. Forensic Sci Int. 2018 Dec;293:70-76. doi: 10.1016/j.forsciint.2018.09.034.
  • A comprehensive evaluation of the genetic architecture of sudden cardiacarrest. Ashar FN, et al. Eur Heart J. 2018 Nov 21;39(44):3961-3969. doi: 10.1093/eurheartj/ehy474.
  • Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases. Hellenthal N, et al. Europace. 2017 Nov 1;19(11):1881-1890. doi: 10.1093/europace/euw247.

Download here interesting open access manuscripts on SCD