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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
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
What Information Is Needed For An Evaluation?
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
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
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.
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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Center for Heart & Vascular Health
4755 Ogletown-Stanton Road,
Newark, DE 19718
