Sudden Cardiac Death Panel

What is Sudden cardiac death?

Sudden cardiac death (SCD) is a sudden, unexpected death. A loss of heart function (sudden cardiac arrest) causes it. Sudden cardiac death is the largest cause of natural death in India. When you have a sudden cardiac arrest, your body’s organs can’t receive any oxygen. Without immediate help to get oxygen to your brain and other vital organs, this is fatal.It causes about 325,000 adult deaths in the nation each year. Sudden cardiac death is responsible for half of all heart disease deaths.

Sudden cardiac death occurs most frequently in adults in their mid-30s to mid-40s. Most sudden cardiac death occurs while playing team sports. In athletes aged 35 and older, it happens more often while running or jogging. About 1 in 15,000 joggers and 1 in 50,000 marathon runners have sudden cardiac death.It affects men and people assigned male at birth (AMAB) twice as often as it does women and people assigned female at birth (AFAB). This condition is rare in children, affecting only 1 to 2 per 100,000 children each year.

Book a Test

When do you get tested for Sudden cardiac death?

Do you have a family history of sudden cardiac death at a young age (under 50 years old)?
Have you already been diagnosed with genetic heart disease and are worried about the implications of this for your children?
Has anyone in your family been diagnosed with myocardiopathy or channelopathy?

If you answered YES to any of the above questions you should be aware that sudden cardiac death may be caused by genetic disease. Therefore, establishing if you have a genetic disease is of paramount importance to both yourself and your family when safeguarding your future health.

Why do you need genetic testing forSudden cardiac death?

Every year, sudden cardiac death claims many lives globally, with a genetic base for diagnosis identifiable in around 20% of those cases.

A genetic diagnosis can be life-saving as genetic test results can direct and improve patient treatment, management, and target surveillance for cardiovascular complications
They can help determine if an individual carries a disease-causing variant associated with a heritable risk to develop cardiomyopathy
This provides valuable information to the patient and their family about future medical management
Implement an effective treatment plan and offer you support and guidance, for future family planning.
Genetic testing can differentiate hereditary cardiomyopathy/channelopathy from other genetic and non-genetic heart conditions

These genetic diseases do not always show up at the same age, or with the same severity, for all family members that are carriers of the genetic alteration. Identifying those family members who are carriers but have not already developed the disease allows preventive measures or appropriate treatment pathways to be aligned with their individual needs.

Here is the solution, With DrSeq SCD® PNL.

you will know, through your genetics, whether you are at risk of suffering from genetic heart disease and sudden cardiac death.

Drseq SCD® covers 152 genes and regions associated with cardiovascular conditions with a capture target size of 772 kb.

It is important to remember that familial heart disease affects one in every 400 individuals in the general population and that a genetic cause can be found in approximately 50% of cases.

Gene list

ABCC9, ACTA2, ACTC1, ACTN2, ADAMTS2, AKAP9, ALPK3, ANK2, ANKRD1, ANO5, ASPH, B4GALT7, BAG3, BGN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CBS, CCM2, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FKBP14, FKTN, FLNA, FLNC, FOXE3, GATA4, GATAD1, GJA5, GLA, GPD1L, HCN4, HTRA1, ILK, JPH2, JUP, KCNA5, KCND3, CNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRIT1, LAMA4, LAMP2, LDB3, LMNA, LMNB2, LOX, MAT2A, MED12, MFAP5, MIB1, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NPPA, NSD1, PDLIM3, PKP2, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SGCD, SKI, SLC2A10, SLC8A1, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, TAZ, TBX20, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TNXB, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL.

Diseases to be covered in DrSeq SCD® PNL

Congenital Heart Disease (CHD)

Congenital Heart Disease is the most common type of birth defect, representing an important cause of infant morbidity and mortality
CHD refers to structural and functional heart defects present during birth, which include septal defects, valve defects, and outflow tract anomalies
Syndromic CHD can be due to aneuploidies, chromosomal deletions or translocations, or single-gene defects

Cardiac Channelopathies

Cardiac Channelopathies develop as a result of mutations in genes encoding ion channel proteins, involved in cardiac conduction thereby impairing channel function
Most channelopathies follow an autosomal dominant pattern of inheritance

Long QT Syndrome (LQTS)

Long QT Syndrome is the most common cardiac channelopathy, estimated to affect about 1 in 2500 persons It can be asymptomatic or characterized by symptoms like arrhythmias/heart flutters, syncope/fainting, and sudden cardiac death
Currently, there are 13 types of LQTS depending on the presence of the mutation along with the various genes
The majority of LQTS follow the autosomal dominant mode of inheritance

Short QT Syndrome (SQTS)

Short QT Syndrome is an inheritable cardiac channelopathy characterized by abnormally short QT intervals and atrial fibrillation in the absence of structural heart disease
A cardiac arrest is the most frequent symptom (up to 40%), followed by palpitations (30%), syncope (25%), and Atrial Fibrillation (AF)

Brugada Syndrome (BS)

Brugada Syndrome is characterized by ST-segment elevation in leads V1–V3 of an electrocardiogram (ECG)
Sudden cardiac death could be the first manifestation of the disease
BS can occur from early infancy to late adulthood
Affected individuals develop monomorphic ventricular tachycardia; often precipitated during sleep or rest, and especially fever
BS accounts for 4% to 12% of sudden cardiac deaths

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic Polymorphic Ventricular Tachycardia is a pathological condition whereby intense physical exercise or acute emotional stress can trigger ventricular tachycardia (abnormal heartbeat) which can lead to dizziness, fainting (syncope) and in the worst cases, cardiac arrest, and sudden death
CPVT-affected individuals have normal resting EKGs with a structurally and functionally normal heart
CPVT has an estimated prevalence of 1 in 10,000 people and commonly manifests at an early age

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, characterized by an enlarged, thick, or rigid muscle
Cardiomyopathy can lead to heart failure, arrhythmias, and/or sudden death
It can also be a symptom of other genetic diseases such as Noonan’s syndrome, Danon disease, Fabry disease, mitochondrial myopathy, or muscular dystrophy

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic Cardiomyopathy is also known as Idiopathic Hypertrophic Subaortic Stenosis (IHSS)
HCM is characterized the by thickening of the left ventricle thereby restricting blood flow through the heart, and for the left ventricle to fully relax
Children with HCM are also at increased risk for arrhythmia

Dilated Cardiomyopathy (DCM)

Dilated Cardiomyopathy, also known as congestive cardiomyopathy, is a common form of cardiomyopathy in children, and ischemic cardiomyopathy is the most common type of dilated cardiomyopathy
In DCM, the heart becomes enlarged and does not contract, or squeeze poorly

Restrictive Cardiomyopathy (RCM)

In Restrictive Cardiomyopathy, the ventricle cannot relax properly. As a result, blood flows back into the atria, and they become enlarged, while the ventricles remain normal in size
This is a rare form of cardiomyopathy that can occur anytime from childhood to adulthood

Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Arrhythmogenic Right Ventricular Dysplasia is a disorder of the muscular wall of the heart where part of the myocardium breaks down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death
It usually appears after 10 years of age

Left Ventricular Non-Compaction (LVNC)

Left Ventricular Non-compaction is the most recently classified form of cardiomyopathy, characterized by abnormal trabeculations in the left ventricle, most frequently at the apex
It can be associated with left ventricular dilation, systolic or diastolic dysfunction, or both, or various forms of congenital heart disease
It is a condition where the muscular wall of the left ventricle appears ‘spongy’
It can affect the heart’s ability to work efficiently as a pump and affect the electrical signaling of the heart

Familial Hypercholesterolemia (FH)

Familial Hypercholesterolemia is a genetic condition of an abnormally high level of cholesterol in the blood
Deposition of cholesterol in the walls of arteries leads to atherosclerosis resulting in coronary artery disease and heart attack
FH can be transmitted in both autosomal dominant and recessive inheritance patterns
Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern
The mutations in the LDLRAP1 gene cause an autosomal recessive form