Sinoatrial node dysfunction and deafness

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ORPHA:324321OMIM:614896H91.8
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Overview

Sinoatrial node dysfunction and deafness is an extremely rare genetic condition that affects both the heart and hearing. The sinoatrial (SA) node is the heart's natural pacemaker — a small cluster of cells that sends electrical signals telling the heart when to beat. In this condition, the SA node does not work properly, which can cause the heart to beat too slowly (bradycardia), have irregular rhythms, or pause between beats. At the same time, affected individuals experience sensorineural hearing loss, meaning the inner ear or the nerve pathways from the inner ear to the brain are damaged, leading to partial or complete deafness. Symptoms related to the heart may include fainting, dizziness, fatigue, and exercise intolerance. The hearing loss can range from moderate to severe and may be present from birth or develop in early childhood. Because the condition involves both the heart and the ears, patients typically need care from multiple specialists. Treatment focuses on managing symptoms. For the heart rhythm problems, a pacemaker may be needed to keep the heart beating at a normal rate. Hearing aids or cochlear implants can help with hearing loss. There is currently no cure that addresses the underlying genetic cause of this condition. Early diagnosis is important so that appropriate heart monitoring and hearing support can be started as soon as possible.

Also known as:

Key symptoms:

Slow heart rate (bradycardia)Irregular heartbeatFainting or near-fainting episodesDizziness or lightheadednessHearing loss or deafnessFatigue and low energyDifficulty exercising or keeping up with physical activityHeart pauses or skipped beatsShortness of breathPoor tolerance of physical exertion

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Sinoatrial node dysfunction and deafness.

View clinical trials →

No actively recruiting trials found for Sinoatrial node dysfunction and deafness at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Sinoatrial node dysfunction and deafness community →

No specialists are currently listed for Sinoatrial node dysfunction and deafness.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Sinoatrial node dysfunction and deafness.

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Community

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Latest news about Sinoatrial node dysfunction and deafness

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my child's (or my) sinoatrial node dysfunction, and will a pacemaker be needed?,What type and degree of hearing loss is present, and what are the best options for hearing support?,How often should heart rhythm monitoring and hearing tests be done?,Are there any physical activities or sports that should be avoided?,Should other family members be tested for this genetic condition?,What are the signs that the condition is getting worse and when should I seek emergency care?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Sinoatrial node dysfunction and deafness

What is Sinoatrial node dysfunction and deafness?

Sinoatrial node dysfunction and deafness is an extremely rare genetic condition that affects both the heart and hearing. The sinoatrial (SA) node is the heart's natural pacemaker — a small cluster of cells that sends electrical signals telling the heart when to beat. In this condition, the SA node does not work properly, which can cause the heart to beat too slowly (bradycardia), have irregular rhythms, or pause between beats. At the same time, affected individuals experience sensorineural hearing loss, meaning the inner ear or the nerve pathways from the inner ear to the brain are damaged, le

How is Sinoatrial node dysfunction and deafness inherited?

Sinoatrial node dysfunction and deafness follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Sinoatrial node dysfunction and deafness typically begin?

Typical onset of Sinoatrial node dysfunction and deafness is childhood. Age of onset can vary across affected individuals.