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Other Inherited Conditions

Many other conditions have a genetic link, including heart disease and Huntington’s Disease

There are many, many genetic disorders, or conditions that have a hereditary component, from heart disease to Huntington’s disease. A genetic counselor can guide you to determine if genetic testing may be helpful for you and your family.

Genetic Heart Disease

Most types of heart and cardiovascular diseases have a genetic link, including:

  • Heart rhythm problems, called arrhythmias
  • Aneurysms (ballooning in a blood vessel)
  • Coronary heart disease, or blockage of blood vessels in the heart that can lead to heart attacks
  • Stroke, typically caused by a blockage of a blood vessel in the brain
  • Heart muscle diseases, called cardiomyopathies, that can lead to heart failure
  • High cholesterol
  • Sudden death caused by a heart condition, called sudden cardiac death

The risk of most heart-related diseases is multifactorial. That means that while you can inherit a gene mutation that increases your risk, it doesn’t mean you will develop the problem. Additional lifestyle factors affect your level of risk, such as diet, exercise and whether you smoke. Because of all of the factors involved, in some cases there is no genetic test that can tell you your specific risk.  However, there is genetic testing available for many types of heart disease, and certain red flags in your lifestyle and your family history can help tell you if genetic testing is right for you.  Knowing you inherited a specific genetic increased risk for heart disease can help you understand your personal risks better and can also help your doctor or cardiologist provide preventative care. This type of information or even just knowing you have a strong family history of heart disease may encourage you to live a healthier life. Most genetic types of heart disease are dominant, which means they affect both males and females and that all first-degree relatives (your parents, siblings and children) have a 50 percent risk of inheriting the gene.  Learn more.

A genetic counselor can work with you to help you determine if you or others in your family may have inherited a gene mutation, which can lead to inherited risk of heart disease. A genetic counselor can explain what type of heart disease genetic testing could be right for you and what it can tell you. You should talk to a genetic counselor if you have the following signs of a strong family health history of heart disease:

  • Heart disease at a young age (younger than 55 in men and younger than 65 in women)
  • High cholesterol in a number of family members
  • Sudden death of a family member who seemed healthy
  • Fainting
  • Being unable to tolerate exercise (pain, nausea, extreme exhaustion after exercise, fainting)
  • Heart failure or heart transplant at a younger age
  • Multiple relatives with pacemakers or implantable cardiac defibrillators
  • Sudden infant death syndrome

If genetic testing shows you have an increased risk, your genetic counselor can guide you regarding options for screening and treatment, which may include:

  • Cardiac testing such as electrocardiogram (ECG), echocardiogram (ECHO), or other screening tests
  • Medications to manage blood pressure and cholesterol
  • Implantation of a device that ensures the heart beats in the correct rhythm, or that can shock a heart back into rhythm
  • Surgery

Learn more about genetic counseling for heart disease

Hear from a patient with hereditary heart disease about his experience with a genetic counselor

 

 

Huntington’s Disease

Huntington’s disease (HD) is an inherited disorder that leads to the progressive death of nerve cells in the brain. It causes involuntary movements, decline of mental ability and mood disturbances. Many people do not begin to show signs of this condition until adulthood, often their 30s and 40s. If this disease runs in your family, a simple blood test can determine if you will get the disease.

People may choose to pursue genetic testing for multiple reasons:

  • Diagnostic testing to confirm or rule out a suspicion of HD based on symptoms.
  • Predictive testing for at-risk adults who have a known family history of HD, but do not have symptoms themselves.
  • Prenatal diagnostic testing for at-risk pregnancies with a known family history HD for family planning.

While medications can help with symptoms, there is no cure for HD.

If you do decide to learn whether you have the genetic mutation that causes Huntington disease, you can use this information to prepare yourself and your family for what to expect in the future. There are many considerations in testing for HD. While the Genetic Information Nondiscrimination Act of 2008 (GINA) protects you and your genetic information regarding employment and medical insurance eligibility, results from a genetic test for HD could affect your insurance coverage.

Learn more about genetic testing for Huntington’s disease

 A genetic counselor can work with you to help you determine if you are at risk for HD, and the pros and cons of genetic testing.

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