Overview
Genetic cardiac malformation (Orphanet code 477805) is a broad term used to describe heart defects that are caused — at least in part — by changes in a person's genes. These malformations happen when the heart does not form correctly during early development in the womb. The result can be structural problems such as holes between the heart's chambers, abnormal valves, or vessels that are connected in the wrong way. Some people also hear this group of conditions called 'congenital heart defects with a genetic cause' or 'hereditary congenital heart disease.' Because this is a category covering many different types of heart malformations, symptoms can vary widely from person to person. Some individuals have mild defects that cause few problems, while others have complex heart anatomy that requires surgery shortly after birth. Common symptoms include a bluish tint to the skin (cyanosis), rapid or difficult breathing, poor feeding in infants, fatigue, and reduced ability to exercise. Some people also have other birth differences in other parts of the body, depending on the underlying genetic cause. Treatment depends on the specific type of heart defect. Options range from careful monitoring with no immediate intervention, to medications that help the heart work more efficiently, to catheter-based procedures or open-heart surgery. Many people with genetic cardiac malformations live full and active lives, especially when the condition is caught early and managed by a specialist team. Ongoing follow-up with a cardiologist throughout life is usually recommended.
Key symptoms:
Bluish or grayish color of the skin, lips, or fingernails (cyanosis)Rapid or labored breathingPoor feeding or tiring easily during feeding in infantsUnusual fatigue or low energyReduced ability to exercise or keep up with peersHeart murmur detected by a doctorSwelling in the legs, belly, or around the eyesFainting or near-fainting spellsIrregular or fast heartbeat (palpitations)Slow weight gain or poor growth in infants and childrenChest pain or discomfortFrequent respiratory infections
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Genetic cardiac malformation.
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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 Genetic cardiac malformation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific type of heart defect does my child (or I) have, and what is causing it genetically?,Does my child need surgery or another procedure, and if so, when?,What physical activities are safe, and are there any I should avoid?,Should other family members be tested for the same genetic condition?,What signs should I watch for at home that mean I need to go to the emergency room?,Will my child need lifelong follow-up with a cardiologist, and what does that look like as they grow up?,Are there clinical trials or new treatments I should know about?
Common questions about Genetic cardiac malformation
What is Genetic cardiac malformation?
Genetic cardiac malformation (Orphanet code 477805) is a broad term used to describe heart defects that are caused — at least in part — by changes in a person's genes. These malformations happen when the heart does not form correctly during early development in the womb. The result can be structural problems such as holes between the heart's chambers, abnormal valves, or vessels that are connected in the wrong way. Some people also hear this group of conditions called 'congenital heart defects with a genetic cause' or 'hereditary congenital heart disease.' Because this is a category covering
Which specialists treat Genetic cardiac malformation?
22 specialists and care centers treating Genetic cardiac malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.