Overview
Cardiomyopathy-cataract-hip spine disease syndrome is an extremely rare genetic condition that affects several different parts of the body at the same time. The three main features of this syndrome are cardiomyopathy (a disease of the heart muscle that makes it harder for the heart to pump blood), cataracts (clouding of the lens in the eye that affects vision), and abnormalities of the hip joints and spine (skeletal problems). The cardiomyopathy in this condition is typically dilated cardiomyopathy, meaning the heart chambers become enlarged and weakened. Cataracts may develop early in life and can lead to significant vision problems if not treated. The hip and spine problems can include hip dysplasia, scoliosis, or other structural changes that may cause pain and difficulty with movement. Because this syndrome is so rare, with only a handful of families described in the medical literature, our understanding of the full range of symptoms and the best treatments is still limited. Treatment is mainly supportive and focuses on managing each individual symptom. Heart medications or devices may be needed for the cardiomyopathy, surgery can address cataracts, and orthopedic care can help with hip and spine issues. Regular monitoring by a team of specialists is important to catch and manage complications early.
Also known as:
Key symptoms:
Weakened or enlarged heart (dilated cardiomyopathy)Clouding of the eye lens (cataracts)Hip joint abnormalitiesSpine abnormalities such as scoliosis or kyphosisShortness of breathFatigue and low energyDifficulty with physical activity or exercise intoleranceBlurred or decreased visionJoint pain or stiffnessDifficulty walking or changes in gaitHeart rhythm problems
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Cardiomyopathy-cataract-hip spine disease syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cardiomyopathy-cataract-hip spine disease syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Cardiomyopathy-cataract-hip spine disease syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cardiomyopathy-cataract-hip spine disease syndrome.
Community
No community posts yet. Be the first to share your experience with Cardiomyopathy-cataract-hip spine disease syndrome.
Start the conversation →Latest news about Cardiomyopathy-cataract-hip spine disease syndrome
No recent news articles for Cardiomyopathy-cataract-hip spine disease syndrome.
Follow this condition to be notified when news becomes available.
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 cardiomyopathy, and what is the current heart function?,What medications are recommended for the heart, and what side effects should I watch for?,When should cataract surgery be considered?,What type of physical activity is safe given the heart and skeletal problems?,Should genetic testing be done for other family members?,How often should follow-up appointments be scheduled with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Cardiomyopathy-cataract-hip spine disease syndrome
What is Cardiomyopathy-cataract-hip spine disease syndrome?
Cardiomyopathy-cataract-hip spine disease syndrome is an extremely rare genetic condition that affects several different parts of the body at the same time. The three main features of this syndrome are cardiomyopathy (a disease of the heart muscle that makes it harder for the heart to pump blood), cataracts (clouding of the lens in the eye that affects vision), and abnormalities of the hip joints and spine (skeletal problems). The cardiomyopathy in this condition is typically dilated cardiomyopathy, meaning the heart chambers become enlarged and weakened. Cataracts may develop early in life an
How is Cardiomyopathy-cataract-hip spine disease syndrome inherited?
Cardiomyopathy-cataract-hip spine disease syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.