Overview
Atrial septal defect-atrioventricular conduction defects syndrome (also known as ASD with atrioventricular conduction defects, or familial atrial septal defect with atrioventricular conduction defects) is a rare inherited cardiac condition characterized by the combination of an atrial septal defect (ASD) — a hole in the wall separating the upper chambers of the heart — and abnormalities in the electrical conduction system of the heart, particularly atrioventricular (AV) block. This syndrome primarily affects the cardiovascular system. The atrial septal defect is typically of the secundum type, allowing abnormal blood flow between the left and right atria, which can lead to right heart volume overload and, if untreated, pulmonary hypertension over time. The atrioventricular conduction defects manifest as prolonged PR interval on electrocardiogram (first-degree AV block) and may progress to higher degrees of heart block. Some affected individuals may also develop atrial fibrillation or other arrhythmias. This syndrome has been linked to mutations in the NKX2-5 gene (also known as CSX), a transcription factor critical for cardiac development and maintenance of the conduction system. Mutations in the TBX5 gene have also been associated with similar phenotypes in some families. Clinical presentation is variable, even within the same family. Some individuals may be asymptomatic and diagnosed incidentally, while others may present with fatigue, palpitations, exercise intolerance, or symptoms of heart failure. Diagnosis is made through echocardiography and electrocardiography, often prompted by family screening. Treatment depends on the severity of the defects and may include surgical or catheter-based closure of the ASD, and implantation of a pacemaker for significant conduction abnormalities. Lifelong cardiac follow-up is recommended, as conduction defects may be progressive even after ASD repair.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Atrial septal defect-atrioventricular conduction defects syndrome.
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Specialists
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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 Atrial septal defect-atrioventricular conduction defects syndrome.
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Common questions about Atrial septal defect-atrioventricular conduction defects syndrome
What is Atrial septal defect-atrioventricular conduction defects syndrome?
Atrial septal defect-atrioventricular conduction defects syndrome (also known as ASD with atrioventricular conduction defects, or familial atrial septal defect with atrioventricular conduction defects) is a rare inherited cardiac condition characterized by the combination of an atrial septal defect (ASD) — a hole in the wall separating the upper chambers of the heart — and abnormalities in the electrical conduction system of the heart, particularly atrioventricular (AV) block. This syndrome primarily affects the cardiovascular system. The atrial septal defect is typically of the secundum type
How is Atrial septal defect-atrioventricular conduction defects syndrome inherited?
Atrial septal defect-atrioventricular conduction defects syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.