Sudden cardiac death (Sudden Cardiac Death)

Sudden cardiac death is natural death from cardiac causes, including loss of consciousness within one hour from the onset of symptoms. Other causes of sudden death may be noncardiac cause (respiratory airway obstruction, poisoning or poisoning, anaphylaxis or trauma). Sudden cardiac death is different from cardiac arrest, by cessation of heartbeat that may be reversible. Sudden cardiac death occurs naturally, quickly and unexpectedly, without specifying the mechanism or cause of death.

The most common cause of sudden cardiac death in an adult over 30 years is the coronary atheroma, which usually has a marked stenosis of at least one segment of a major coronary artery. Many cases have evidence of a thrombus in a major coronary artery causing obstruction of the blood vessel, and death is the result of a prolonged myocardial ischemia transitional period or, inducing an arrhythmia, usually ventricular causing ventricular fibrillation . As a result there is usually no changes in the myocardium, without acute necrosis or infarction. Stenoses significant degree, often cause previous episodes of ischemia and focal areas of fibrosis in the myocardium. Ventricular arrhythmias often occur in myocardium has been previously affected by episodes of ischemia.

Left ventricular hypertrophy is the second leading cause of sudden cardiac death in adults. It is the result of a prolonged high blood pressure, which causes secondarily, damage to the wall of the left ventricle period. This hypertrophy is associated with arrhythmia.

The mechanism of death in most cases of sudden cardiac death is ventricular fibrillation, so there are usually no prodromal symptoms related death. Patients are performing a normal life, and suddenly suffer a collapse without the typical symptoms of a heart attack, such as chest pain or shortness of breath. In some cases there are symptoms of myocardial ischemia, such as chest pain, radiating to the left arm or jaw. Patients are not well, and present with nausea, dizziness, and vomiting. These symptoms precede death can occur within minutes to a few hours. Rapid cardiac care and use of defibrillators save they have allowed many people with ventricular fibrillation. However, in cases of sudden cardiac death, the heart usually does not respond to attempts to resuscitative maneuvers, even with early defibrillation.            

Among the causes to consider for sudden cardiac death include:

      • Not arteriosclerotic coronary artery abnormalities.
      • Ventricular hypertrophy.
      • Myocardial diseases cardiac failure:
        • Arrhythmogenic right ventricular cardiomyopathy (Arrhytmogenic left ventricular cardiomyopathy) (ALVC).
        • Hypertrophic Cardiomyopathy (Hypertrophic cardiomyopathy) (HCM).
        • Dilated cardiomyopathy (Dilated cardiomiopathy) (DCM).
        • Myocardial infarction ((myocardial infarction).
        • No compacting cardiomyopathy (noncompaction cardiomyopathy)
      • Inflammatory, infiltrative, neoplastic and degenerative processes
      • Valvular diseases.
      • Congenital heart disease.
      • Primary electrophysiological abnormalities:
        • Long QT syndrome (Long QT Syndrome) (LQTS), congenital or acquired.
        • Short QT syndrome (Short QT syndrome) (SQTS).
        • Sick sinus syndrome (Sick sinus syndrome).
        • Brugada syndrome (Brugada syndrome) (BS)
        • Catecholaminergic polymorphic ventricular tachycardia (catecholaminergic polymorphic ventricular tachycardia) (CPVT).
      • Magnesium deficiency (magnesium deficiency).
      • Cystic tumor of the atrioventricular region.
      • Commotio cordis.
      • Mechanical interference venous return.
      • Aortic dissection.
      • Toxic and metabolic disorders.

In the above processes, causing sudden cardiac death, the related genetic disorders are listed below:

Hypertrophic Cardiomyopathy (Hypertrophic cardiomyopathy) (HCM).

MYH7 gene (locus 14q12) - beta myosin chain.

MYBPC3 (11p11.2) - Protein C myosin - binding.

TNNT2 gene (1q32) - Troponin T.

TNNI3 gene (19q13.4) -Troponina I.

Other less common genes:

TPM1 gene (15q22.1) - alpha-tropomyosin.

MYL2 gene (12q24.3) - myosin regulatory light chain.

MYL3 gene (3p21) - Light chain essential myosin.

ACTC1 gene (15q14) - Actin.

TTN gene (2q31) - Titina.

CSRP3 gene (11p15.1) - muscle LIM protein.

TCAP gene ((17q12) - Telotonina.

MYOZ2 gene (4q26) - Miozenina 2.

PRKAG2 gene - kinada AMP dependent protein.

Gene LAMP2 - Protein 2 lisosma associated membrane.

GLA gene (Xq22) - alpha galactosidase A.

ACTN2 gene (1q42-q43) - actinin alpha 2.

CALR3 gene (19p13.11) - Calreticulin 3.

JPH2 gene (20q13.12) - Junctophilin 2.

NEXN gene (1p31.1) - Nexilin (binding protein F - actin).

PLN gene (6q22.1) - phospholamban.

VCL gene (10q22.2) - Vinculin.

Dilated cardiomyopathy (Dilated cardiomyopathy) (DCM).


TTN gene (2q31) - Titina.

Other less common genes:

ABCC9 gene (12p12.1) - 2 sulfonylurea receptor (SUR 2).

ANKRD1 gene (10q23.31) - ankyrin repeat.

BAG3 gene (10q25.2-q26.2) - athanogene 3 associated bLC2.

CRYAB gene (11q22.3-q23.1) - alpha-B crystalline.

CSRP3 gene (11p15.1) - 3 protein rich in cysteine and glycine.

DES gene (2q35) - desmin.

DMD gene (Xp21.2) - dystrophin.

DSG2 gene (18q12.1) - desmoglein 2.

EYA4 gene (6q23) - 4 eyes absent.

LAMA4 gene (6q21) - laminin alpha 4.

LDB3 gene (10q22.3-q23.2) - LIM domain binding 3.

LMNA gene (1q22) - lamin A and lamin C

MYBPC3 (11p11.2) - cardiac myosin binding protein C

MYPN gene (10q21.3) - myopalladin.

PLN gene (6q22.1) - phospholamban.

PSEN1 gene (14q24.3) - presenilin 1.

PSEN2 gene (1q42.13) - presenilin 2.

RBM20 gene (10q25.2) - 20 protein RNA binding.

SCN5A (3p21) - type V alpha subunit of the sodium channel.

SGCD gene (5q33-q34) - delta subunit proteins sarcoglycan complex.

TAZ gene (Xq28) - tafazzin.

TCAP gene (17q12) - titin-cap.

TMPO gene (12q22) - thymopoietin.

TNNI3 gene (19q13.4) - troponin I.

VCL gene (10q22.2) - vinculin.

MYH6 gene (14q12) - alpha myosin heavy chain.

MYH7 gene (14q11) - beta myosin heavy chain.

TNNC1 gene (3p21.1) - Troponin C.

TNNT2 gene (1q32) - Troponin T.

ACTC1 gene (15q14) - Actin.

ACTN2 gene (1q42-q43) - actinin alpha 2

TPM1 gene (15q22.1) - alpha tropomyosin.

RYR2 gene (1q41.2-q43) - ryanodine receptor.

Arrhythmogenic right ventricular cardiomyopathy (Arrhytmogenic left ventricular cardiomyopathy) (ALVC)

DP gene (6p24) - desmoplakin.

Gene PKP2 (12p11) - Plakoflina-2.

JUP gene (17p21) - Plakoglobin.

Gene DSC2 - desmocollin-2.

Gene DSG2 - Desmoglobina-2.

TGBF3 gene (14q23-q24) - transforming growth factor beta-3.

RYR2 gene (1q41.2-q43) - ryanodine receptor.

Long QT syndrome (Long QT syndrome) (LQTS), congenital or acquired.

LQT-1: KCNQ1 (11p15.5) gene.

LQT-2: KCNH2 gene (7q36.1).

LQT-3: SCN5A (3p21).

LQT-4: ANK2 gene (4q25-q27).

LQT-5: KCNE1 gene (21q22.12).

LQT-6: KCNE2 gene (21q22.12).

LQT-7: KCNJ2 gene (17q24.3).

LQT-8: CACNA1C gene (12p13.3).

LQT-9: CAV3 (3p25) gene.

LQT-10: SCN4B gene (13q23.3).

LQT-11: AKAP9 (7q21-q22) gene.

LQT-12: SNTA1 gene (20q11.2).

LQT-13: KCNJ5 gene (11q24).

Short QT syndrome (Short QT syndrome) (SQTS).

KCNH2 gene (7q36.1).

KCNJ2 gene (17q24.3).

KCNQ1 gene (11p15.5).

Sick sinus syndrome (Sick sinus syndrome).

SCN5A (3p21).

HCN4 gene (15q24.1).

MYH6 gene (14q12).

Brugada syndrome (Brugada syndrome) (BS)

SCN5A (3p21).

Other less common genes:

GPD1L gene (3p22.3).

CACNA1C gene (12p13.3).

CACNA2D1 gene (7q21-q22).

CACNB2 gene (10p12).

SCN1B gene (19q13.1).

SCN2B gene (11q23).

SCN3B gene (11q23.3).

SCN5A (3p21).

KCND3 gene (1p13.3).

HCN4 gene (15q24.1).

HCNE3 gene (11q13.4).

HCNE5 gene (Xq22.3).

KCNJ8 gene (12p11.23).

RANGRF gene (17p13.1).

SLMAP gene (3p21.2-Q14.3).

TRPM4 gene (19q13.33).

Catecholaminergic polymorphic ventricular tachycardia (catecholaminergic polymorphic ventricular tachycardia) (CPVT).

CASQ2 gene (1p13.1) - calsequestrin 2.

RYR2 gene (1q43) - ryanodine receptor 2.

Tests in IVAMI: in IVAMI perform detection of mutations associated with sudden cardiac death, by complete PCR amplification of any of the genes involved, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).