Overview
Rare syndrome with cardiac malformations (Orphanet code 156532) is an extremely rare genetic condition in which the heart does not develop properly before birth. Babies born with this syndrome typically have structural problems in the heart, such as holes between heart chambers, abnormal heart valves, or problems with the major blood vessels leaving the heart. These cardiac malformations can range from mild to life-threatening depending on the specific defects present. Because this is classified as a syndrome, affected individuals may also have additional features beyond the heart, which can include differences in facial appearance, growth delays, or developmental challenges. Because this condition is so rare, detailed medical literature is very limited. The heart problems are usually detected during pregnancy on ultrasound or shortly after birth when a baby shows signs such as a heart murmur, bluish skin color, or difficulty breathing. Treatment depends on the type and severity of the heart defects and may include medications to support heart function, catheter-based procedures, or open-heart surgery. Some patients require multiple surgeries over their lifetime. Lifelong follow-up with a cardiologist is typically necessary. Early diagnosis and intervention are key to improving outcomes, and a team of specialists usually works together to manage the various aspects of this condition.
Key symptoms:
Heart defects present at birthHeart murmurBluish skin color (cyanosis)Difficulty breathingPoor feeding in infancySlow weight gain or failure to thriveFatigue or tiring easilySwelling in the legs, abdomen, or around the eyesRapid or irregular heartbeatDevelopmental delaysUnusual facial featuresShort stature or growth delays
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Rare syndrome with cardiac malformations.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare syndrome with cardiac malformations at this time.
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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 Rare syndrome with cardiac malformations.
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 heart defects does my child have, and how severe are they?,Will my child need surgery, and if so, when and how many procedures might be expected?,Should we pursue genetic testing, and what might the results tell us?,Are there any activity restrictions my child should follow?,What signs or symptoms should prompt me to seek emergency care?,What is the long-term outlook for my child's heart function and overall development?,Are there other specialists my child should see besides a cardiologist?
Common questions about Rare syndrome with cardiac malformations
What is Rare syndrome with cardiac malformations?
Rare syndrome with cardiac malformations (Orphanet code 156532) is an extremely rare genetic condition in which the heart does not develop properly before birth. Babies born with this syndrome typically have structural problems in the heart, such as holes between heart chambers, abnormal heart valves, or problems with the major blood vessels leaving the heart. These cardiac malformations can range from mild to life-threatening depending on the specific defects present. Because this is classified as a syndrome, affected individuals may also have additional features beyond the heart, which can i
At what age does Rare syndrome with cardiac malformations typically begin?
Typical onset of Rare syndrome with cardiac malformations is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Rare syndrome with cardiac malformations?
1 specialists and care centers treating Rare syndrome with cardiac malformations are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.