Living with Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
A mitochondrial (energy-making) condition affecting the heart muscle, kidneys, muscles, and brain, starting in infancy.
Understanding Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
It involves thickened and enlarged heart muscle (cardiomyopathy), slow weight gain, muscle disease with low muscle tone, and developmental delay or loss of skills. Kidney problems include long-term kidney disease and renal tubular acidosis. Some people also have seizures and breathing trouble. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart muscle disease (cardiomyopathy)
- Chronic kidney disease
- Slow weight gain
- Low muscle tone (floppy infant)
- Global developmental delay
- Feeding difficulties
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 MT-TL1 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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
Changes in the MT-TL1 gene cause this condition. It is mitochondrial, meaning the gene is in the mitochondria, the cell's energy factories.
Also known as: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation; hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation; hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation; hypertrophic cardiomyopathy with kidney anomalies due to mtdna mutation; hypertrophic cardiomyopathy with renal anomalies due to mitochondrial dna mutation
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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