Living with HEC syndrome
A rare genetic condition that can affect the heart, brain fluid, and eyes, with signs starting around birth.
Understanding HEC syndrome
The name comes from three features: communicating hydrocephalus (extra fluid in the brain), endocardial fibroelastosis (thickening of the heart's inner lining), and congenital cataracts. It starts in the newborn period. GARD notes it has not been described in the medical literature since 1995.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fluid in the brain (communicating hydrocephalus)
- Thickening of the heart's inner lining (endocardial fibroelastosis)
- Clouding of the eye lens at birth (cataract)
- Disease of the heart muscle (cardiomyopathy)
- Abnormal heart rhythm (arrhythmia)
- Trouble breathing (respiratory insufficiency)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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)
- 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
- 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
GARD says changes in genes (also called variants) cause HEC syndrome. It also notes a link with a mother's upper respiratory infection in early pregnancy and extra amniotic fluid late in pregnancy.
Also known as: hec (hydrocephalus, endocardial fibroelastosis, cataract) syndrome; hydrocephalus with endocardial fibroelastosis and cataract syndrome; hydrocephalus-endocardial fibroelastosis-cataract syndrome; hydrocephalus, endocardial fibroelastosis, and cataracts
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with HEC syndrome.
Explore research for HEC syndrome
Explore actively recruiting HEC syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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