Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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ORPHA:228012OMIM:606346H90.3
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Overview

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome is an extremely rare genetic condition that affects both the ears and the heart. People with this syndrome gradually lose their hearing over time due to damage to the inner ear's nerve pathways (called sensorineural hearing loss). At the same time, the heart muscle becomes abnormally thick, a condition known as hypertrophic cardiomyopathy (HCM). The thickened heart muscle can make it harder for the heart to pump blood efficiently and may lead to symptoms such as shortness of breath, chest pain, fatigue, and in some cases, dangerous heart rhythm problems. The hearing loss in this condition typically gets worse over time, starting with difficulty hearing certain pitches and progressing to more significant hearing impairment. The heart involvement can range from mild thickening with few symptoms to more serious complications that require close monitoring and treatment. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing symptoms: hearing aids or cochlear implants may help with hearing loss, while medications, lifestyle modifications, and sometimes surgical procedures are used to manage the heart condition. Regular monitoring by both ear specialists and heart doctors is essential to track how the disease progresses and adjust treatment as needed.

Also known as:

Key symptoms:

Gradual hearing loss that worsens over timeThickening of the heart muscleShortness of breath, especially during exerciseChest pain or discomfortHeart palpitations or irregular heartbeatFatigue and low energyDizziness or lightheadednessFainting episodesDifficulty understanding speech, especially in noisy settingsRinging in the ears (tinnitus)

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome.

View clinical trials →

No actively recruiting trials found for Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome community →

No specialists are currently listed for Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome.

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 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome.

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Community

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Latest news about Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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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 the hearing loss right now, and how quickly is it expected to progress?,How thick is the heart muscle, and what is the current risk level for heart complications?,Are there any physical activities or sports that should be avoided?,Should family members be screened for this condition?,What genetic testing is recommended, and what would the results mean for our family?,When should we consider hearing aids or cochlear implants?,Is an implantable defibrillator (ICD) something we should discuss now or in the future?

Common questions about Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

What is Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome?

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome is an extremely rare genetic condition that affects both the ears and the heart. People with this syndrome gradually lose their hearing over time due to damage to the inner ear's nerve pathways (called sensorineural hearing loss). At the same time, the heart muscle becomes abnormally thick, a condition known as hypertrophic cardiomyopathy (HCM). The thickened heart muscle can make it harder for the heart to pump blood efficiently and may lead to symptoms such as shortness of breath, chest pain, fatigue, and in some cas

How is Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome inherited?

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.