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Hereditary heart conditions

Inherited heart conditions may go unnoticed

Heart conditions are hereditary in some families. Understanding your genetic risk can help you make important decisions about screening, monitoring, and care.

Understanding Hereditary Heart Conditions

Some heart conditions are hereditary and linked to inherited gene changes (mutations) that affect how the heart works. People who inherit these mutations are born with them and have a higher risk for certain heart conditions. The specific condition and level of risk vary depending on the genes and mutations involved.

Hereditary heart conditions include cardiomyopathies, arrhythmias, thoracic aortic aneurysms and dissections, and familial hypercholesterolemia. Some may not cause symptoms but can carry serious risks, including sudden death. Understanding genetic risk can help support earlier screening, heart monitoring, and specialized care to help manage these risks.

Counter statistics

1 in 60
people have an inherited cardiovascular condition
50%
chance of passing on an autosomal dominant heart condition
Am I At Risk?

Could a Hereditary Heart Condition Run In Your Family?

Hereditary Heart Condition Risk Checklist

Select all that apply to you or your family members
Select any items that apply to you. Results will update automatically as you make selections.

No risk factors selected.

Based on your current answers, you may not have the typical risk indicators for a hereditary heart condition. If you have any concerns, speak with your healthcare provider — they may have additional reasons to consider testing.

Based on your responses, you may want to consider speaking with your healthcare provider about hereditary cancer genetic testing.

If your responses indicate that you may be at-risk for hereditary cancer, there are important next steps to take.

Not everyone who has a risk will necessarily go on to develop disease. Ambry’s genetic testing and counseling supports you and your healthcare provider in determining the best plan of action moving forward.*

*Your healthcare provider may identify other reasons why it may be beneficial for you to pursue genetic testing.

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Shortness of Breath
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Unusual Fatigue
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Chest Pain or Pressure
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Irregular Heartbeat
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Fainting or Near-Fainting
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Unexplained Nausea
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Persistent Coughing
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Sudden Cardiac Arrest

Recognize the Symptoms

Inherited heart conditions can show up in multiple generations of the same family. However, symptoms and severity vary from person to person — and some people have no symptoms at all.

Understanding your family history and genetic risk for inherited heart conditions can support decisions about earlier medical screening, heart monitoring, and specialized care before symptoms start.
Why It Matters

What Genetic Testing Can Change

Having a genetic risk doesn’t mean a serious heart problem is inevitable. It means you and your healthcare provider can take action — and so can your family.
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For You
How results may shape your heart care plan
  • Confirm or clarify an inherited heart condition diagnosis or risk
  • Guide decisions about medical screening, heart monitoring, and specialized care
  • Help optimize treatment decisions based on your specific genetic profile
  • Identify inherited heart condition risks for close family members
  • Offer answers after a sudden unexplained cardiac event in a family
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For Your Family
Your result may affect those closest to you
  • 50% chance that each close biological relative (parent, sibling, child) carries the same mutation if you inherited it
  • Sharing your results could prompt family members to consider genetic testing and take early proactive steps
  • Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified
Understanding Results

What Your Result Actually Means

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Negative

No mutations linked to hereditary heart conditions were found in any genes that were tested.

A negative genetic test result can be reassuring, but personal and family medical history still affect heart disease risk. Discuss next steps with your healthcare provider.

Genetic testing may still be appropriate for other family members to consider, depending on their medical histories.

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Positive

A mutation linked to a hereditary heart condition was found in at least one of the genes tested.

A positive genetic test result confirms a higher risk for certain heart conditions. Specific medical care, heart monitoring, or treatment recommendations may be based on the gene and mutation involved.

Close family members may also carry the same mutation. Genetic testing may be appropriate for them to consider.

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VUS

A genetic change was found, but it is currently unclear whether it affects a person’s risk for inherited heart conditions.

VUS = Variant of Uncertain Significance. Until more is understood about the science, medical care and heart screening decisions should be based on a person’s personal and family history.

These test results can change over time as scientific knowledge grows. Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified.

Tests and Gene Information

Find information about our cardiology tests here. Click the arrows to expand the gene list to see all of genes that are included on each test.
ARVCNext™
11 Genes
An 11 gene panel that identifies arrhythmogenic right ventricular dysplasia, an inherited disorder characterized by abnormal fat deposits around the wall of the heart. This can cause problems with the electrical system in the heart that controls the heartbeat’s regular rhythm.
DES
DSC2
DSG2
DSP
JUP
LMNA
PKP2
PLN
RYR2
SCN5A
TMEM43
CPVTNext®
4 Genes
A 4 gene panel to identify catecholaminergic polymorphic ventricular tachycardia, an inherited arrhythmia that occurs during the stress of exercise or an onset of emotion.
CALM1
CASQ2
RYR2
TRDN
LongQTNext™
17 Genes
A multi gene panel to identify and diagnose common inherited arrhythmias such as long QT syndrome, Brugada syndrome and short QT syndrome. The test can be an effective way to confirm an arrhythmia disorder and direct medical management and treatment decisions.
AKAP9
ANK2
CACNA1C
CALM1
CALM2
CALM3
CAV3
KCNE1
KCNE2
KCNH2
KCNJ2
KCNJ5
KCNQ1
SCN4B
SCN5A
SNTA1
TRDN
RhythmNext™
42 Genes
A multi gene panel to identify and diagnose common inherited arrhythmias such as long QT syndrome, Brugada syndrome and short QT syndrome. The test can be an effective way to confirm an arrhythmia disorder and direct medical management and treatment decisions.
AKAP9
ANK2
CACNA1C
CACNA2D1
CACNB2
CALM1
CALM2
CALM3
CASQ2
CAV3
DES
DSC2
DSG2
DSP
GPD1L
HCN4
JUP
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
LMNA
NKX2-5
PKP2
PLN
RYR2
SCN10A
SCN1B
SCN3B
SCN4B
SCN5A
SNTA1
TBX5
TECRL
TMEM43
TRDN
TRPM4

Resources

Everything you need to understand your results and take next steps.
Patient Guides
Family Member Testing for Inherited Cardiovascular Conditions
Hereditary Cardiovascular Conditions

Useful Organizations to Know