Related Experiment Videos
Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus
M Martínez-Lavín1, C Pineda, C Navarro
1Instituto Nacional de Cardiología Ignacio Chávez, Rheumatology Service, México D.F.
Insights
Patent ductus arteriosus (PDA), a congenital heart defect, can co-occur with primary hypertrophic osteoarthropathy (HOA), a rare genetic disorder. Surgical PDA closure did not impact HOA
Area of Science:
- Medical Genetics
- Cardiology
- Pediatrics
Background:
- Patent ductus arteriosus (PDA) is a congenital heart defect associated with various genetic and chromosomal disorders.
- Primary hypertrophic osteoarthropathy (HOA) is a rare inherited condition characterized by digital clubbing and bone overgrowth without other diseases.
Purpose of the Study:
- To report on four patients presenting with both PDA and primary HOA.
- To investigate the relationship between these two conditions.
Main Methods:
- Case series describing four patients with coexisting PDA and primary HOA.
- Evaluation of the impact of surgical PDA closure on skeletal manifestations of HOA.
Main Results:
- Four patients with concurrent PDA and primary HOA were identified.
- Surgical intervention for PDA did not alter the skeletal findings of primary HOA.
Conclusions:
- Primary HOA should be considered in the spectrum of heritable disorders associated with PDA.
- The findings suggest a potential genetic link between PDA and primary HOA.
Abstract:
Patent ductus arteriosus (PDA) is a congenital malformation that has been linked to diverse heritable and chromosomal disorders. Primary hypertrophic osteoarthropathy (HOA) is a rare heritable syndrome in which digital clubbing and periostosis become evident without any underlying illness. The objective of this article is to describe four patients with coexisting PDA and primary HOA. Surgical closure of the ductus showed no effect on the skeletal changes. Primary HOA should be included among the heritable disorders that may be associated with PDA.