Living with Tubular renal disease-cardiomyopathy syndrome
A rare genetic condition that affects how the kidneys handle salts and minerals and weakens the heart muscle.
Understanding Tubular renal disease-cardiomyopathy syndrome
The kidney tubules do not handle minerals normally, leading to low potassium and magnesium and high calcium in the urine. Calcium can build up in the kidneys. The heart muscle can become stretched and thin. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stretched, thin heart muscle (dilated cardiomyopathy)
- Heart failure
- Fluid around the heart or in the lungs
- Calcium buildup in the kidneys (nephrocalcinosis)
- Muscle jerks (myoclonic spasms)
- Joint pain
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 genetic specialists, heart and blood vessel specialists and kidney specialists.
- 3Consider genetic testing
Changes in RRAGD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Kidney specialists (nephrologists)
- 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 and other patient organizations
- 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
This condition is caused by changes in the RRAGD gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: kidney tubulopathy-dilated cardiomyopathy syndrome; tubular renal disease with cardiomyopathy syndrome
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tubular renal disease-cardiomyopathy syndrome.
Explore research for Tubular renal disease-cardiomyopathy syndrome
Explore actively recruiting Tubular renal disease-cardiomyopathy syndrome studies with HealthSpark.
Find actively recruiting studies for Tubular renal disease-cardiomyopathy syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tubular renal disease-cardiomyopathy syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tubular renal disease-cardiomyopathy syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tubular renal disease-cardiomyopathy syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.