Overview
Primary triglyceride deposit cardiomyovasculopathy, sometimes called TGCV or triglyceride deposit cardiomyovasculopathy, is a rare inherited disease where fat — specifically a type called triglycerides — builds up abnormally inside the heart muscle and blood vessel walls. This buildup happens because the body cannot properly break down triglycerides inside cells, leading to a harmful accumulation over time. The disease mainly affects the heart and blood vessels, causing the heart muscle to weaken and the arteries to become stiff and narrowed. People with this condition often develop a form of heart failure called dilated cardiomyopathy, where the heart becomes enlarged and pumps blood less effectively. They may also develop coronary artery disease at a younger age than expected, even without the usual risk factors like high cholesterol or smoking. Muscle weakness affecting the body's skeletal muscles can also occur in some people. Treatment today focuses on managing heart failure symptoms and protecting the heart, using standard heart medications. There is currently no approved cure or therapy that directly removes the triglyceride deposits. Research into targeted treatments is ongoing, and early diagnosis is important to slow the progression of heart damage.
Key symptoms:
Shortness of breath, especially during activityFatigue and low energySwelling in the legs, ankles, or feetIrregular or rapid heartbeat (palpitations)Chest pain or pressureEnlarged, weakened heart (dilated cardiomyopathy)Narrowing of the heart's arteries (coronary artery disease)Muscle weakness in the arms or legsReduced ability to exerciseDizziness or lightheadedness
Clinical phenotype terms (29)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Primary triglyceride deposit cardiomyovasculopathy.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Primary triglyceride deposit cardiomyovasculopathy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage is my heart disease at, and how quickly might it progress?,Should my family members be tested for the PNPLA2 gene change?,Which heart medications are best for my situation, and what side effects should I watch for?,Do I need a defibrillator or other device to protect my heart rhythm?,Are there any clinical trials or experimental treatments I should consider?,What physical activities are safe for me, and which should I avoid?,How often do I need heart imaging and follow-up appointments?
Common questions about Primary triglyceride deposit cardiomyovasculopathy
What is Primary triglyceride deposit cardiomyovasculopathy?
Primary triglyceride deposit cardiomyovasculopathy, sometimes called TGCV or triglyceride deposit cardiomyovasculopathy, is a rare inherited disease where fat — specifically a type called triglycerides — builds up abnormally inside the heart muscle and blood vessel walls. This buildup happens because the body cannot properly break down triglycerides inside cells, leading to a harmful accumulation over time. The disease mainly affects the heart and blood vessels, causing the heart muscle to weaken and the arteries to become stiff and narrowed. People with this condition often develop a form of
How is Primary triglyceride deposit cardiomyovasculopathy inherited?
Primary triglyceride deposit cardiomyovasculopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary triglyceride deposit cardiomyovasculopathy typically begin?
Typical onset of Primary triglyceride deposit cardiomyovasculopathy is adult. Age of onset can vary across affected individuals.
Which specialists treat Primary triglyceride deposit cardiomyovasculopathy?
2 specialists and care centers treating Primary triglyceride deposit cardiomyovasculopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.