Overview
Pulmonary aortic stenosis with obstructive uropathy (also listed under Orphanet code 1137) is an extremely rare condition that has been classified as 'OBSOLETE' in medical databases, meaning it is no longer recognized as a distinct disease entity in current medical nomenclature. Historically, this term described a combination of heart defects — specifically narrowing of the pulmonary valve and/or aortic valve (which restrict blood flow out of the heart) — along with obstructive uropathy, a condition where urine flow is blocked somewhere in the urinary tract (kidneys, ureters, or bladder). This blockage can cause urine to back up and damage the kidneys over time. The combination of these cardiac and urinary findings was once considered a recognizable syndrome, but advances in genetic and clinical understanding have likely led to this condition being reclassified, merged into another diagnosis, or determined not to represent a single unified disorder. Patients who were previously diagnosed with this condition may now fall under different, more precisely defined diagnoses. Because this entry is obsolete, very limited clinical data is available regarding its specific cause, inheritance, or treatment. Individuals who believe they or a family member may have features matching this description should consult a clinical geneticist to obtain an updated and accurate diagnosis using current classification systems.
Also known as:
Key symptoms:
Heart murmur detected at birth or in infancyNarrowing of the pulmonary valve (pulmonary stenosis)Narrowing of the aortic valve (aortic stenosis)Blockage of urine flow in the urinary tractSwelling of the kidneys due to urine backup (hydronephrosis)Difficulty breathing or rapid breathing in infantsPoor feeding or failure to thriveBluish skin color (cyanosis) in severe heart involvementReduced urine output or urinary tract infectionsKidney damage or reduced kidney function
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Pulmonary aortic stenosis obstructive uropathy.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Pulmonary aortic stenosis obstructive uropathy.
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 OBSOLETE: Pulmonary aortic stenosis obstructive uropathy.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.Has this diagnosis been updated or reclassified under a more current condition?,Should we pursue genetic testing to find a more specific diagnosis?,How severe is the heart valve narrowing, and will surgery or a procedure be needed?,What is the current status of kidney function, and is there risk of long-term kidney damage?,What signs or symptoms should prompt us to seek emergency care?,Are there any activity restrictions for my child?,What is the long-term outlook, and how often will follow-up visits be needed?
Common questions about OBSOLETE: Pulmonary aortic stenosis obstructive uropathy
What is OBSOLETE: Pulmonary aortic stenosis obstructive uropathy?
Pulmonary aortic stenosis with obstructive uropathy (also listed under Orphanet code 1137) is an extremely rare condition that has been classified as 'OBSOLETE' in medical databases, meaning it is no longer recognized as a distinct disease entity in current medical nomenclature. Historically, this term described a combination of heart defects — specifically narrowing of the pulmonary valve and/or aortic valve (which restrict blood flow out of the heart) — along with obstructive uropathy, a condition where urine flow is blocked somewhere in the urinary tract (kidneys, ureters, or bladder). This
At what age does OBSOLETE: Pulmonary aortic stenosis obstructive uropathy typically begin?
Typical onset of OBSOLETE: Pulmonary aortic stenosis obstructive uropathy is neonatal. Age of onset can vary across affected individuals.