Familial patent arterial duct

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ORPHA:466729OMIM:607411Q25.0
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Overview

Familial patent arterial duct, also known as familial patent ductus arteriosus (PDA), is a rare inherited heart condition. Before birth, every baby has a small blood vessel called the ductus arteriosus that connects two major arteries leaving the heart — the aorta and the pulmonary artery. This vessel normally closes on its own within the first few days after birth. In familial PDA, this vessel stays open (patent) and the condition runs in families, meaning it is passed down through generations due to changes in specific genes. When the ductus arteriosus remains open, oxygen-rich blood from the aorta mixes with oxygen-poor blood heading to the lungs. This forces the heart and lungs to work harder than normal. A small PDA may cause few or no symptoms, while a larger one can lead to rapid breathing, poor feeding, poor weight gain, and a heart murmur that a doctor can hear with a stethoscope. Over time, if untreated, a significant PDA can cause heart failure and high blood pressure in the lungs (pulmonary hypertension). Treatment depends on the size of the opening and the severity of symptoms. In some cases, medications such as indomethacin or ibuprofen can help close the duct in newborns. If medication does not work, a minimally invasive catheter-based procedure or surgery may be needed to close the duct. With timely treatment, most patients do very well and can live normal, healthy lives. Because this is a familial form, genetic counseling is recommended for affected families to understand the risk of the condition occurring in future children.

Key symptoms:

Heart murmur heard by a doctorRapid or heavy breathingPoor feeding in infantsPoor weight gain or failure to thriveSweating during feedingFatigue or tiring easilyFast heartbeatShortness of breath with activityFrequent respiratory infectionsEnlarged heartBounding or strong pulseBluish skin color in severe casesSwelling in the legs or feet if heart failure develops

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial patent arterial duct.

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No actively recruiting trials found for Familial patent arterial duct at this time.

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No specialists are currently listed for Familial patent arterial duct.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial patent arterial duct.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How large is the patent ductus arteriosus, and how much is it affecting my child's heart?,Is medication likely to close the duct, or will a procedure be needed?,What are the risks and benefits of catheter closure versus surgery?,Should other family members be screened for this condition?,What genetic testing do you recommend for our family?,After treatment, will my child have any activity restrictions?,How often will follow-up appointments and echocardiograms be needed?

Common questions about Familial patent arterial duct

What is Familial patent arterial duct?

Familial patent arterial duct, also known as familial patent ductus arteriosus (PDA), is a rare inherited heart condition. Before birth, every baby has a small blood vessel called the ductus arteriosus that connects two major arteries leaving the heart — the aorta and the pulmonary artery. This vessel normally closes on its own within the first few days after birth. In familial PDA, this vessel stays open (patent) and the condition runs in families, meaning it is passed down through generations due to changes in specific genes. When the ductus arteriosus remains open, oxygen-rich blood from t

At what age does Familial patent arterial duct typically begin?

Typical onset of Familial patent arterial duct is neonatal. Age of onset can vary across affected individuals.