Revolutionizing Heart Health: The Impact of Whole Genome Sequencing on World Heart Day

Revolutionizing Heart Health: The Impact of Whole Genome Sequencing on World Heart Day

World Heart Day

 

On World Heart Day, we unite to raise awareness about cardiovascular health and the importance of early detection and prevention of heart diseases. One groundbreaking tool that's transforming our ability to understand and address heart conditions is Whole Genome Sequencing (WGS) analysis. At Dante Labs, we're proud to offer many dedicated panels for heart diseases, each contributing to a healthier heart and a healthier you.

 

 

Heart Disease and Genetics

 

Worldwide, cardiovascular disease affects 471 million people and is the leading cause of death with about 17.6 million deaths per year, with a trend to increase to 24 million by 2030.

It has been known for a long time that cardiovascular disease, and in particular the possibility of being affected by heart attack, is influenced by two factors: environmental and lifestyle on the one hand, and genetic predisposition on the other.

Both components are important, but usually the earlier a heart attack is (before age 60 for women and 55 for men) the greater the influence of genetic predisposition; the later it is the greater the component due to lifestyle.

However, although relevant, correct habits are not always sufficient to ward off the onset of cardiovascular disease. There are, in fact, genetic predisposition factors or widespread conditions such as diabetes, hypertension and hypercholesterolemia that can promote them and require specific therapeutic interventions even in primary prevention. For this reason, it becomes necessary to perform a genetic test that can identify the cardiovascular risk of individuals and then be able to take consequent preventive interventions.


   

The Significance of Whole Genome Sequencing Analysis

 

Traditional methods of diagnosing and assessing heart diseases have limitations. They often focus on specific genes or markers, potentially missing crucial information. Whole Genome Sequencing analysis, on the other hand, examines an individual's entire genome, providing comprehensive insights into their genetic makeup.

The genome is essentially the entire set of an organism's genetic material, including all the genes, non-coding regions, and other elements that make up an individual's DNA.

Whole genome sequencing can analyze all Cardiovascular-related variants, allowing a better understanding of susceptibility to these diseases.


  

A Comprehensive Approach to Heart Health

 

Dante Labs offers 9 specialized panels for heart diseases, covering a wide range of conditions, including:

 

  • Cardiovascular Panel
  • When genetic predisposition meets incorrect lifestyles, the risk of developing cardiovascular pathologies increases considerably. In a limited number of cases cardiometabolic pathologies are linked to monogenic mutations, but in the majority of cases, instead, they are multifactorial and complex disorders, to which different genes contribute.

    This panel is indicated for those who suffer from cardiovascular disorders, who have already experienced cardiovascular accidents and want to understand the basis of their genetic risk and for those who have a family history of this type of medical condition.

     

  • Cardiometabolic Disorders Panel
  • This panel is indicated for those who suffer from cardiometabolic disorders, who have already experienced cardiovascular accidents and want to understand the basis of their genetic risk and for those who have a family history of this type of medical condition.

     

  • Cardiomyopathies Panel
  • Cardiomyopathies are a group of disorders that affect the heart muscle, leading to abnormal heart function and structure. This panel screens for genetic variants associated with various types of cardiomyopathy, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. These conditions can cause symptoms such as chest pain, shortness of breath, and heart palpitations, and can lead to complications such as heart failure and sudden cardiac death.

    This panel is useful for individuals with a family history of cardiomyopathy or sudden cardiac death, or individuals with symptoms such as chest pain, shortness of breath, or heart palpitations. Early diagnosis can inform treatment and management strategies, such as medication, lifestyle changes, or surgical interventions.

     

  • Obstructive Hypertrophic Cardiomyopathy Panel
  • Hypertrophic cardiomyopathy typically affects the muscular wall (septum) between the heart's two lower chambers (ventricles). The thickened wall could block blood flow from the heart. This is called obstructive hypertrophic cardiomyopathy.

    Obstructive hypertrophic cardiomyopathy (HOCM) is a type of heart disease characterized by the thickening of the heart muscle and the narrowing of the heart's main pumping chamber. Obstructive HOCM is caused by mutations in genes involved in the structure and function of the heart muscle, and this panel tests for genetic variants that are known to affect these processes.

    This panel is designed for individuals with a family history of obstructive HOCM or individuals with symptoms of the condition, such as chest pain, shortness of breath, and dizziness. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.

     

  • Dilated Cardiomyopathy Panel 
  • This panel tests for mutations in genes associated with dilated cardiomyopathy, a condition in which the heart becomes enlarged and weakened, leading to heart failure. Dilated cardiomyopathy can be caused by genetic mutations or by other factors such as viral infections or alcohol abuse. Testing can help identify individuals who may be at risk of developing the condition and inform their medical management.

    Individuals who have symptoms of frontotemporal dementia or a family history of the condition. This may include individuals with changes in personality, behavior, language, or movement.

     

  • Fallot’s Tetralogy Panel
  • Fallot's tetralogy is a congenital heart defect characterized by four anatomical abnormalities in the heart, including a hole in the wall between the heart's chambers and narrowing of the pulmonary artery. This panel screens for genetic variants associated with Fallot's tetralogy and related conditions, such as pulmonary atresia and double outlet right ventricle. These conditions can cause symptoms such as cyanosis (blue-tinted skin), shortness of breath, and poor growth, and can lead to complications such as heart failure and arrhythmias.

    This panel is useful for individuals with a family history of congenital heart defects or individuals with symptoms such as cyanosis, shortness of breath, or poor growth. Early diagnosis can inform treatment and management strategies, such as surgical interventions or medication.

     

  • Short QT Syndrome Panel
  • Short QT syndrome is a condition that can cause a disruption of the normal rhythm of the heart (arrhythmia). In people with this condition, the heart muscle (cardiac) takes less time than usual to recharge between beats.

    Short QT syndrome is a rare genetic disorder that affects the heart's electrical activity. Short QT syndrome is caused by mutations in genes involved in the regulation of ion channels in the heart, and this panel tests for genetic variants that are known to affect these processes.

    This panel is designed for individuals with a family history of short QT syndrome or individuals with symptoms of the condition, such as palpitations, syncope, and sudden cardiac arrest. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.

     

  • Long QT Syndrome Panel
  • This panel tests for mutations in genes associated with long QT syndrome, a condition that affects the electrical activity of the heart and can lead to abnormal heart rhythms and sudden cardiac death. Long QT syndrome can be caused by genetic mutations or by other factors such as medications. Testing can help identify individuals who may be at risk of developing the condition and inform their medical management.

    Individuals who have a family history of long QT syndrome, or those who want to know their risk of developing the condition. This may include individuals with unexplained fainting or seizures, or a personal or family history of sudden cardiac death.

     

  • CPVT Panel
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is caused by genetic mutations that result in an uncontrolled release of calcium in heart cells, causing ventricular arrhythmias especially during physical activity or emotional stress. Calcium, in fact, is an indispensable element for muscle contraction and for this reason its release and concentration are subjected to strict control. CPVT is a serious condition, which must be promptly identified and treated.

    This panel is particularly suitable for individuals at risk of CPVT, who have close relatives affected by this rare heart disease, or who have a suspected diagnosis.

    On World Heart Day and every day, Dante Labs is dedicated to empowering individuals to take control of their heart health. With WGS analysis and our specialized heart disease panels, you can gain a deeper understanding of your genetic risk factors and work towards a heart-healthy future.


      

    Early Detection and Personalized Treatment Plans

     

    Prevention is an indispensable element in policies to combat the spread of cardiovascular disease.

    WGS analysis can identify genetic variations associated with heart diseases, offering early detection opportunities. With early knowledge, individuals can take proactive steps to mitigate their risk through lifestyle changes, medication, or other interventions.

    For those already living with heart conditions, WGS analysis can lead to more personalized treatment plans. By understanding the genetic factors influencing their condition, patients and healthcare providers can optimize treatment strategies, improving outcomes.


      

    Conclusion

     

    As we commemorate World Heart Day, let's recognize the transformative potential of Whole Genome Sequencing analysis in the realm of heart health. Dante Labs' dedication to providing comprehensive heart disease panels ensures that you have the tools needed to make informed decisions, prioritize prevention, and work towards a healthier heart and a longer, more vibrant life.

    Zurück zum Blog