Your genes offer incredible insights into your heart health. Through genetic testing, we can identify your risk of genetic heart conditions and prevent or treat them earlier so you can stay healthier for longer.
Our dedicated teams provide genetic testing and treatment for these and other inherited heart conditions. Learn about the risk factors, symptoms, diagnosis and treatments for each.
A type of heart rhythm disorder that can be genetic, an arrhythmia happens when the electrical impulses that control the heartbeat don’t work properly, causing the heart to beat irregularly.
Arrhythmia Risk Factors
Some of the most common risk factors include:
Arrhythmia Symptoms
Some people may not experience any symptoms, but the most common ones include:
Arrhythmia Diagnosis and Treatment
A physician might perform an electrocardiogram or an echocardiogram imaging test to understand the symptoms better. Treatment depends on the arrhythmia, and may include:
Cardiomyopathy
Cardiomyopathy is a heart muscle disease that makes it difficult for the heart to pump blood. Different types exist, including hypertrophic cardiomyopathy, dilated cardiomyopathy and infiltrative cardiomyopathy.
Cardiomyopathy Risk Factors
Cardiomyopathy can be genetic. Some distinguishing risk factors include:
Risks for acquired (non-genetic) cardiomyopathy include:
Cardiomyopathy Symptoms
When left untreated over time, cardiomyopathy can cause symptoms like:
Cardiomyopathy Diagnosis and Treatment
Genetic testing can help physicians understand a person’s risk of this condition and aid in a diagnosis. Treatments could include:
Congenital heart disease (CHD) refers to common birth defects that occur during fetal development. CHD may or may not be inherited from a parent.
CHD impairs blood flow into the heart by affecting the connections between the heart chambers, valves or the major vessels that connect the heart chambers with the rest of the body.
CHD may be simple or complex. Examples of simple CHD include atrial septal defects (ASD), patent foramen ovale (PFO), patent ductus arteriosus (PDA) and ventricular septal defects (VSD). Examples of complex CHD include tetralogy of Fallot and hypoplastic left heart syndrome.
Congenital Heart Disease Causes and Risk Factors
The main causes and risks include:
Congenital Heart Disease Symptoms
Cyanosis, breathing difficulties and a heart murmur in the newborn are the earliest signs of CHD. However, not all types of CHD produce symptoms after birth, and may not be detected until adulthood.
Congenital Heart Disease Diagnosis
It’s possible to diagnose CHD during pregnancy if it’s detected during an ultrasound, or soon after birth, as all babies routinely undergo a screening for severe (cyanotic) CHD. Unfortunately, non-cyanotic CHD may not be detected early in life.
Imaging tests like chest X-rays, echocardiograms and electrocardiograms can confirm a CHD diagnosis; genetic testing is also needed to identify the underlying cause and counsel the family about recurrence in future pregnancies.
Congenital Heart Disease Treatment
Simple types of CHD, like a small VSD, ASD or PDA, may close on their own, whereas complex CHD cases require surgical correction. Additionally, medicines are used to control or prevent heart failure.
Aortopathy
Aortopathy is a term for conditions of the aorta, including aortic dilation, aneurysms and dissections. These conditions can involve an abnormal size and shape of the aorta, which can be seen on imaging tests. Aortopathy can be an isolated health problem or part of a systemic connective tissue disorder.
Connective Tissue Disease
Connective tissue is made up of hundreds of proteins that together maintain the form of the body and its organs. Connective tissue is found in skin, cartilage, bone and the walls of vessels like the aorta. Many types of hereditary connective tissue disorders exist, including Marfan syndrome and Ehlers-Danlos syndrome. Genetic testing can detect most familial connective tissue disorders.
Connective Tissue Disease Causes and Risk Factors
The main causes and risks include:
Connective Tissue Disease Symptoms
Aortopathy may or may not cause symptoms of chest pain, shortness of breath and dizziness. If not recognized, a sudden rupture of an aortic aneurysm can be fatal, so it’s critical to get help immediately.
The external signs and symptoms of connective tissue disorders may vary significantly within the same family. Only genetic testing can firmly confirm the diagnosis in such family members without clear signs of the diagnosis.
Connective Tissue Disease Diagnosis and Treatment
Diagnosis and treatment steps include:
Familial hypercholesterolemia and elevated lipoprotein (a) are both genetic factors that increase the risk of developing atherosclerotic heart disease.
Familial Hypercholesterolemia
A genetic condition passed down at birth, familial hypercholesterolemia involves genetic mutations that cause high LDL, or “bad,” cholesterol levels. If left untreated, high LDL cholesterol increases the risk of heart attacks, stroke and even death at much younger ages than the general population.
Familial Hypercholesterolemia Symptoms
Physical signs of extremely high cholesterol include bumps on the skin and a white ring around the eye corneas.
Familial Hypercholesterolemia Diagnosis and Treatment
Blood tests can help evaluate cholesterol levels. Genetic testing can sometimes identify the mutation that leads to the abnormal values and can help determine the best types of therapy and other family members affected. Treatment options can include lifestyle changes, medications that lower LDL cholesterol levels and a procedure called apheresis, which removes cholesterol buildup.
Elevated Lipoprotein (a)
Lipoprotein (a) levels are passed down in families. People who have elevated levels of lipoprotein (a) have a greater risk of a heart attack, stroke, narrowing of arteries in the legs and aortic valve stenosis at an early age.
Elevated Lipoprotein (a) Symptoms
Signs that you and your family may have elevated lipoprotein (a) include an elevated LDL over 190 mg/dl, having familial hypercholesterolemia and having first-degree family members who had a heart attack or stroke at an early age.
Elevated Lipoprotein (a) Diagnosis and Treatment
A diagnosis is made by measuring the blood's lipoprotein (a) levels. Currently, genetic testing for this condition does not add to the diagnosis or treatment strategy. Lifestyle modification and some cholesterol-lowering medications may lower the risk of developing cardiovascular disease.
Hereditary amyloidosis is a genetic disease where amyloid proteins build up in organs like the heart, digestive tract, kidneys or eyes.
Amyloidosis Risk Factors
With this condition, a gene is passed from parent to child. In America, the most common form of the gene is seen in Black Americans.
Amyloidosis Symptoms
Symptoms depend on which organ(s) has the amyloid deposits:
Amyloidosis Diagnosis and Treatment
Genetic testing can pinpoint the gene that causes this condition. Treatment options will depend on the type of symptoms you have and may include an organ transplant.
Many heart-related conditions are hereditary, meaning they’re tied to genetic factors that are passed down in families. By evaluating the variations in your genes, genetic testing gives you and your health care provider insights that help you:
To get started with cardiovascular genetic testing, reach out to our cardiovascular health and wellness nurse navigator team today.
Call Us at 407-303-7108 Email UsThere are many reasons why your health care provider might order genetic testing. In this comprehensive video, genetic counselor Amanda Caceres explains how clinical genetic testing works, and how it can detect inherited causes of disease, help inform your treatment plan for a particular condition, and much more.
