Living with Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
A rare inherited condition affecting the heart, brain, muscles, and eyes, with developmental delay and seizures.
Understanding Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
It causes global developmental delay, very low muscle tone, seizures, cataracts, and heart muscle disease, including left ventricular non-compaction. Lactic acid often builds up, and children may have feeding and breathing problems. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low muscle tone (hypotonia)
- Seizures
- Clouding of the eye lens (cataract)
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Feeding difficulties and slow weight gain
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 brain and nervous system specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MIPEP 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
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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
It is caused by changes in the MIPEP gene. It can be inherited in an autosomal recessive or mitochondrial way.
Also known as: combined oxidative phosphorylation deficiency 31; combined oxidative phosphorylation deficiency caused by mutation in mipep; combined oxidative phosphorylation deficiency type 31; coxpd31; mipep 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
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