Living with Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
A rare condition from mitochondrial problems with a thickened heart muscle in infancy, and possible liver, eye, kidney, and brain effects.
Understanding Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Features include thickened heart muscle (hypertrophic cardiomyopathy) and fatty liver. Other features described are eye problems, headache, paralysis on one side of the body, brain scan changes like Leigh disease, kidney problems, and neurological disease. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Muscle fibers that lack a key enzyme (COX-negative)
- Fatty liver
- Eye problems
- Kidney problems
- Paralysis on one side of the body
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 and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MRPL44 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)
- 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 MRPL44 gene cause mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern.
Also known as: combined oxidative phosphorylation defect type 16; combined oxidative phosphorylation deficiency 16; combined oxidative phosphorylation deficiency caused by mutation in mrpl44; combined oxidative phosphorylation deficiency type 16; coxpd16; mrpl44 combined oxidative phosphorylation deficiency
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.
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