Living with Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
A condition that mainly affects the heart and the sex glands, with weak heart muscle and low sex hormones.
Understanding Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
It combines a disease of the heart muscle (dilated cardiomyopathy) with little or no sex hormone production. Other symptoms may include distinct facial features, intellectual disability, mild bone differences, and metabolic changes. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stretched, thinned heart muscle (dilated cardiomyopathy)
- Low sex hormone production (hypogonadism)
- Early puberty
- Polycystic ovaries
- Drooping upper eyelids (ptosis)
- Wide nasal bridge
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, hormone specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in LMNA 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 and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, Resolve: The National Infertility Association
- 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
Some cases are caused by changes in the LMNA gene. GARD says both autosomal dominant and autosomal recessive inheritance have been described.
Also known as: cardiogenital syndrome; cardiomyopathy with primary testicular failure; cardiomyopathy, congestive, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with hypergonadotropic hypogonadism; cardiomyopathy, dilated, with premature ovarian failure; genital anomaly with cardiomyopathy
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome.
Explore research for Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Explore actively recruiting Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome studies with HealthSpark.
Find actively recruiting studies for Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 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 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 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 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 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.