Living with Lethal congenital glycogen storage disease of heart
A rare inherited condition that affects the heart of babies before or after birth, with breathing and growth problems.
Understanding Lethal congenital glycogen storage disease of heart
It affects babies before or after birth. It is marked by severe heart problems, breathing difficulties, and failure to gain weight. Other features include facial differences, cataracts, enlarged kidneys, and muscle problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged heart (cardiomegaly)
- Heart failure
- Slow heartbeat (bradycardia)
- Low blood pressure
- Large tongue (macroglossia)
- Enlarged kidneys
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 PRKAG2 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
Fetal Health Foundation and 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)
- Expert care
- Expert lists: Fetal Health Foundation, 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 Fetal Health 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 PRKAG2 gene. It is listed as autosomal dominant, which means one changed copy of the gene is enough.
Also known as: fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to gsd; fatal congenital nonlysosomal cardiac glycogenosis; glycogen storage disease caused by mutation in prkag2; glycogen storage disease of heart
Patient organizations
- Fetal Health FoundationLethal congenital glycogen storage disease of heart · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal congenital glycogen storage disease of heart.
Explore research for Lethal congenital glycogen storage disease of heart
Explore actively recruiting Lethal congenital glycogen storage disease of heart studies with HealthSpark.
Find actively recruiting studies for Lethal congenital glycogen storage disease of heart 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 Lethal congenital glycogen storage disease of heart 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 Lethal congenital glycogen storage disease of heart
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 Lethal congenital glycogen storage disease of heart 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.