Living with Cardiomyopathy-cataract-hip spine disease syndrome
A rare condition that combines heart muscle disease, early cataracts, and joint and spine problems.
Understanding Cardiomyopathy-cataract-hip spine disease syndrome
The hip joints degenerate, spinal disks are irregular, and vertebrae are flattened (platyspondyly). Eye problems are often the first symptoms. It starts in the teen years or adulthood. GARD notes there have been no further descriptions in the medical literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the eye lens (cataract)
- Weakened, enlarged heart (cardiomyopathy)
- Heart rhythm problems (arrhythmia)
- Heart failure
- Hip and joint degeneration (osteoarthritis)
- Flattened vertebrae (platyspondyly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Cardiomyopathy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: cardiomyopathy with cataract and hip spine disease syndrome; krasnow qazi syndrome; krasnow-qazi syndrome
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cardiomyopathy-cataract-hip spine disease syndrome.
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