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Familial Cardiovascular Risk Assessment Program

Identifying risks and managing them is a crucial part to heart health.

Familial Cardiovascular Risk Assessment Program

Cardiovascular disease is the number one killer of men and women in the United States. Identifying risks and managing them is a crucial part of a heart-healthy lifestyle. Many people believe that heart disease occurs at random but that is not always the case. Up to 15 percent of heart disease is hereditary, meaning that a risk for heart conditions is passed from one generation to the next. These hereditary or genetic risk factors may increase an individual’s odds of heart disease.

The Familial Cardiovascular Risk Assessment program is a vital part of the ChristianaCare Center for Heart & Vascular Health. This program offers a comprehensive cardiovascular risk assessment that focuses on family history and genetics, along with personal and environmental factors. In addition, the staff at the Center for Heart & Vascular Health is dedicated to learning new ways to better treat these diseases.

Because many heart attacks, strokes and even sudden cardiac deaths occur without warning, early detection is important. Also, patients diagnosed with cardiovascular disease can help slow its progression by learning to manage their risk factors and lead heart-healthy lives.


Know the Key Signs of Hereditary Cardiovascular Disease

We cannot change our family history. But knowing it can help reduce our risk of developing heart disease. Some of the red flags to look for in your family are:

  • Two or more close relatives on the same side of the family with the same or related condition, including relatives who have a pacemaker or who have had heart surgery.
  • Multiple relatives with related disorders such as diabetes, stroke, high blood pressure or high cholesterol.
  • Heart disease at a young age in one or more close relatives (males before age 55 or females before age 65).
  • A history of sudden death in the family, including unexplained accidental death such as drowning or car accidents.
  • A personal or family history of fainting or passing out.
  • A pattern of heart disease being passed through generations in the family.

If any of these key indicators are found, genetic counseling can help assess risk for heart disease for you and your family. This allows us to develop a plan to prevent or aggressively manage your heart disease.

Evaluation Process

The Familial Cardiovascular Risk Assessment Program includes the following steps:

  • Risk assessment: We build a family tree and analyze your family, medical and lifestyle histories.
  • Genetic counseling: We provide you with information about your risk for heart disease in an easy-to-understand manner. In addition, the genetic counselor will explore areas of concern for you and answer your questions about heredity and your risk of developing heart disease.
  • Genetic testing: We review the benefits, limitations and risks of genetic testing and help you understand the information so that you and your doctor can make a decision about genetic testing.
  • Discussion: We talk about strategies for early detection, reducing risks and aggressive management of heart disease.

We know that confidentiality is important in cardiovascular risk assessment. Our evaluation programs ensure that your family and medical history and genetic test results will not be released to anyone without your written consent.

What Information Is Needed For An Evaluation?

Much of the information can be obtained by talking with your parents, siblings, children, grandparents, uncles and cousins. Ask them:

  • Aneurysm of a major blood vessel, such as the aorta or in the brain.
  • Arrhythmia (irregular heartbeat).
  • Bypass surgery of a blocked artery in the heart or legs.
  • Cardiomyopathy (heart muscle disease or an enlarged heart).
  • Coronary artery diseases.
  • Diabetes.
  • Died young or suddenly.
  • Fainting episodes (syncope).
  • Hardening of the arteries (atherosclerosis).
  • Heart attack.
  • Heart failure.
  • Heart transplant.
  • High blood pressure (hypertension).
  • High cholesterol.
  • Stroke or mini-stroke.
  • Sudden infant death syndrome.
  • How old were they when they were diagnosed?
  • How are they related to you?
  • Has genetic testing been performed on anyone in the family? If yes, do they have a copy of the results?

Proof of these conditions is helpful and can be found in medical records, lab reports and sometimes death certificates. If you have these documents, please bring them to your appointment. If not, we can help you obtain this information.

Familial Cardiovascular Risk Assessment Program

Cardiovascular disease is the number one killer of men and women in the United States. Identifying risks and managing them is a crucial part of a heart-healthy lifestyle. Many people believe that heart disease occurs at random but that is not always the case. Up to 15 percent of heart disease is hereditary, meaning that a risk for heart conditions is passed from one generation to the next. These hereditary or genetic risk factors may increase an individual’s odds of heart disease.

The Familial Cardiovascular Risk Assessment program is a vital part of the ChristianaCare Center for Heart & Vascular Health. This program offers a comprehensive cardiovascular risk assessment that focuses on family history and genetics, along with personal and environmental factors. In addition, the staff at the Center for Heart & Vascular Health is dedicated to learning new ways to better treat these diseases.

Because many heart attacks, strokes and even sudden cardiac deaths occur without warning, early detection is important. Also, patients diagnosed with cardiovascular disease can help slow its progression by learning to manage their risk factors and lead heart-healthy lives.

Benefits and limitations of genetic testing

Identifying hereditary heart problems allows patients and their doctors to schedule tests for relatives, in order to identify people who need regular care and those who do not. It helps doctors to manage patients with both cardiac and non-cardiac problems. And it helps patients to make informed family-planning decisions.

Genetic testing may not identify all of the inherited causes of heart disease.

Types of Inherited Heart Disease

There are different types of inherited heart diseases. Identifying these conditions early can lead to better care and improved health over time.

  • Cardiomyopathies are diseases that affect the physical structure of the heart and interfere with its ability to pump blood.
  • Arrhythmias are diseases that affect the heart’s electrical system and the heart’s ability to properly squeeze and relax. Hereditary arrhythmias can result in a heartbeat that is too fast, too slow or irregular. They can lead to rapid heartbeat, lightheadedness, dizziness, fainting and sometimes sudden death.
  • Certain inherited heart conditions can cause a problem with the structure of the aorta—the large blood vessel that loops from the top of the heart, carrying oxygen rich blood to the rest of the body
  • Coronoary artery disease is the most common cause of heart disease and a leading cause of death in the United States. Coronary artery disease is caused by plaque buildup, plaque rupture or a clot that blocks the coronary arteries, causing a lack of oxygen to the heart, preventing it from functioning effectively.
  • Atheriosclerosis is the narrowing of the arteries due to cholesterol buildup and plaque formation. In addition to family history, high blood pressure, diabetes, smoking, high cholesterol, obesity and physical inactivity are risk factors for coronary artery disease.

Hereditary Arrhythmias

Arrhythmias are disturbances in the heart’s electrical system.

The heart has a specialized network that generates electrical signals, which tell the heart muscle when to squeeze and relax. A disturbance to these impulses disturbs the heart’s rhythm, resulting in an arrhythmia. Abnormal heartbeats can result in heart palpitations, lightheadedness, dizziness, fainting and sometimes death.

Long QT Syndrome (LQTS)

Long QT syndrome is a rare disorder in which the lower chambers of the heart beat so fast that the heart cannot pump the blood it needs for the brain to work normally. This is called ventricular tachycardia or ventricular fibrillation. Periods of arrhythmia can occur suddenly, leading to fainting or sometimes cardiac arrest and sudden death.

Long QT syndrome can be caused by a genetic alteration in one of at least 12 genes, or it can be acquired by exposure to some medications. Most heredtary forms of the disease occur in people who inherit only a single genetic variant from one of their parents. A second form, (Jervell and Lange-Nielsen syndrome) usually occurs at a younger age, and the symptoms are more severe. These children are usually born deaf and have LQTS because they inherit two genetic changes, one from each parent.

Short QT Syndrome (SQTS)

Short QT syndrome is a rare hereditary condition in which the heart muscle takes less time than usual to recharge between beats, indicated by a short QT wave on an electrocardiagram. If untreated, irregular heartbeats can lead to a spectrum of signs and symptoms, from dizziness and fainting to cardiac arrest and sudden death.

Short QT syndrome usually affects young, healthy people with no structural heart disease. It may occur as an isolated case, or it may be present in families.

Brugada Syndrome

Brugada syndrome is an inherited condition with a specific abnormal heartbeat, called a Brugada sign, which causes the lower ventricles of the heart to beat so fast that the blood cannot circulate well in the body. This irregular heart rhythm can cause fainting or sudden cardiac arrest.

Brugada syndrome is most common in people of Asian ancestry, and it is more likely found in males. It most commonly affects otherwise healthy people 30–50 years old, but cases have been reported in people as young as infants and as old as 84. Most cases are inherited from a parent who has Brugada syndrome.

The Genetics of Hereditary Arrhythmias

The majority of genetic alterations or mutations responsible for causing hereditary arrhythmias are passed through a family in an autosomal dominant pattern, with the exception of one form of long QT syndrome. In autosomal dominant patterns, a mutated gene from only one parent is needed to pass on a disorder.

Autosomal dominant disorders tend to occur in every generation of an affected family, with all of the children of a parent with the genetic alteration having a 50 percent chance of inheriting the alteration.

Inherited Cardiomyopathies

Cardiomyopathy is a disease of the heart muscle in which the heart loses its ability to pump blood effectively. Many forms of cardiomyopathy are genetic. Family members of someone with cardiomyopathy are often at risk to develop the disease.

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy is the most common inherited heart disorder, affecting approximately 1 in every 500 people. It occurs when the left ventricle of the heart is thicker than normal. This reduces the heart’s ability to pump blood.

Hyertrophic cardiomyopathy can be caused by an abnormality in a gene that codes the characteristics for the heart muscle.

Restrictive Cardiomyopathy (RCM)

Restrictive cardiomyopathy is rare. Signs of RCM include a stiffening of the ventricular walls, which restricts the heart’s ability to stretch and fill with blood properly. Little is know about its genetic causes.

Dilated Cardiomyopathy (DCM)

Dilated cardiomyopathy is seen in approximately 1 in 2,500 people. Signs of dilated cardiomyopathy include an enlarged or dilated left ventricle and reduced pumping function.The enlargement is a result of a weakened heart muscle.

Studies have shown that 20 to 35 percent of primary dilated cardiomyopathy is linked to genetics.

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy is estimated to affect 1 in 5,000 people. In this condition, the heart muscle is gradually replaced by fat tissue. This may lead to episodes of rapid heartbeats (arrhythmia), which can cause cardiac arrest and sudden death. Approximately half of the cases of this condition are caused by inherited genetic mutations.

The Genetics of Cardiomyopathy

The majority of genetic alterations or mutations responsible for causing cardiomyopathy are passed through a family in an autosomal dominant pattern. In autosomal dominant patterns, a mutated gene from only one parent is needed to pass on the disorder.

Autosomal dominant disorders tend to occur in every generation of an affected family, with all children of a parent with a genetic alteration having a 50 percent chance of inheriting the alteration.

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Familial Cardiovascular Risk Assessment Program

Center for Heart & Vascular Health
4755 Ogletown-Stanton Road,
Newark, DE 19718