Expert Care for Familial Arrhythmia and Arrhythmic Cardiomyopathies
An arrhythmia is an abnormal heart rhythm, or heartbeat,
which can be either too fast or too slow. The heart rate normally varies in
response to factors such as physical activity, stress, or pain. But when there
are problems with the heart’s electrical system, which regulates heart rate,
the abnormal heartbeat is considered an arrhythmia.
With a multidisciplinary team of specialists in heart rhythm
disorders, heart disease, and genetic conditions, UT Southwestern provides
comprehensive services to diagnose and treat arrhythmic conditions. We
coordinate patient care across medical specialties for genetic testing and
counseling and minimally invasive interventional cardiology procedures.
Types of Familial Arrhythmias and Arrhythmic Cardiomyopathies
Familial arrhythmias result from genetic mutations and are
passed down through families. These include:
- Atrial fibrillation
- Arrhythmogenic right
ventricular dysplasia (ARVD)
- Amyloid cardiomyopathy
- Brugada syndrome
- Hypertrophic
cardiomyopathy
- Idiopathic ventricular
fibrillation
- Lamin AC cardiomyopathy
- Long QT
syndrome
- Muscular dystrophy
- Noncompaction cardiomyopathy
- Phospholamban cardiomyopathy
- Sarcoid
cardiomyopathy
- Short QT syndrome
- Wolff-Parkinson-White
syndrome
Causes of Familial Arrhythmias and Arrhythmic Cardiomyopathies
Although familial arrhythmias result from inherited gene
mutations, having the abnormal gene alone does not necessarily mean that a
person will develop an arrhythmia. The two patterns of inheritance are:
- Autosomal
dominant: One parent has a copy of the abnormal gene, which means that the
child has a 50 percent chance of inheriting the gene.
- Autosomal
recessive: The child inherits a copy of the abnormal gene from both parents.
Familial arrhythmias can affect patients of any age, gender,
or ethnicity. People who have the gene mutation for familial arrhythmias can
develop the condition from causes such as:
- Cardiomyopathy, diseases of the heart muscle that
cause it to enlarge or thicken, such as amyloid, sarcoid, and hypertrophic
cardiomyopathy
- Cardiomyopathies that
cause the heart to dilate, such as ARVD, lamic AC, and phosholamban
cardiomyopathies
- Primary electrical
disease, such as Brugada syndrome, idiopathic ventricular fibrillation,
and Long QT syndrome
Symptoms of Familial Arrhythmias and Arrhythmic Cardiomyopathies
Depending on the type and cause of the arrhythmia, symptoms can
vary, and some people might not experience symptoms at all. Common symptoms include:
- Dizziness or
lightheadedness
- Heart palpitations (rapid
or fluttering heartbeat)
- Pain or pounding in the
chest
- Shortness of breath
- Syncope
(fainting)
- Weakness or fatigue
Certain factors can help doctors pinpoint the type of
arrhythmia for a diagnosis. These factors include:
- Heartbeat pattern, such as fast or slow, or
short or long
- Palpitations that happen at rest, or during light
or strenuous activity
- Palpitations that start or stop suddenly or
gradually
Diagnosis of Familial Arrhythmias and Arrhythmic Cardiomyopathies
If left untreated, some arrhythmias can become life
threatening. It’s important for people who have any of the symptoms to see
their doctor as soon as possible.
At UT Southwestern, our experienced heart specialists
conduct a thorough evaluation to confirm a diagnosis. Our diagnostic process
includes a physical exam and discussion of the patient’s personal and family
medical history. During the exam, our doctors ask patients to describe any
symptoms they are experiencing.
To determine the specific type of familial arrhythmia, our
doctors generally use one or more tests, such as:
- Electrocardiogram
(EKG): A noninvasive test that records the heart’s electrical activity to
check for abnormal heart rhythms
- Long-term
ambulatory monitor: A portable device that records the heart’s electrical
activity over an extended period of time
- Chest
X-ray: Imaging that
doctors use to examine organs and other structures inside the chest, which can
show signs of heart failure or causes of other, unrelated conditions
- Stress
test: A way to evaluate patients during exercise, which is particularly
important for those with exertional symptoms
- Echocardiogram: An ultrasound that uses sound waves
to produce images of the heart to assess heart function, size and shape of the
heart, blood flow to the heart, and previous injury to heart muscle
- Electrophysiology study: Minimally invasive procedure in
which a catheter (long, thin, flexible tube) is inserted through a tiny
incision into an artery to assess the heart’s electrical activity
- Ablation:
Pinpoints the abnormal tissue causing the arrhythmia and cauterizes it to
cure the patient of the arrhythmia
- Cardiac
magnetic resonance imaging (MRI): Imaging that uses magnets and a computer
to show moving and still images of the heart and its blood vessels to assess
blood flow
- Genetic
testing: Specialized blood tests that look for genetic abnormalities to
confirm a diagnosis and help determine whether family members should be
evaluated for familial arrhythmia
Treatment Options for Familial Arrhythmias and Arrhythmic Cardiomyopathies
Treatment options vary depending on the type of familial
arrhythmia, its severity, and its underlying cause. The goals are to:
- Relieve symptoms
- Reduce the risk of life-threatening complications
such as blood clots, heart failure, or sudden cardiac arrest or death
Healthy lifestyle habits can help manage symptoms of
familial arrhythmias and arrhythmic cardiomyopathies. UT Southwestern offers a Preventive
Cardiology program that provides personalized support to help
patients make healthy lifestyle changes, such as:
- Not smoking and avoiding secondhand smoke
- Eating a healthy diet
- Getting physical activity
- Maintaining a healthy weight
Additional options for treating familial arrhythmias and
arrhythmic cardiomyopathies include:
- Medications to relax the heart muscle, slow the
heartbeat, and/or thin the blood to reduce the risk of blood clots
- Interventional
cardiology procedures using cardiac catheterization to perform
ablation, which is the use of heat energy to treat specific parts of the heart
to correct abnormal electrical activity
- Surgery
to implant electrical devices such as pacemakers or implantable cardioverter-defibrillators
to regulate heartbeat
- Cardiac
rehabilitation to either prevent heart disease complications or
support recovery after a heart procedure or heart attack