Atrial septal defect ostium secundum pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Although atrial septal defect ostium secundum defects occur sporadically, they are associated with and occur with higher frequency in certain genetic disorders.

Pathophysiology

Associated Conditions

Most of ostium secundum ASDs occur sporadically. However, ostium secundum ASD has been found to occur with increased frequency in association with some genetic disorders including:

Holt-Oram (heart-hand) syndrome
Down syndrome
Noonan syndrome
Treacher Collins syndrome
Thrombocytopenia-absent radii (TAR) syndrome
Mitral valve prolapse: 10% to 20 % of individuals with ostium secundum ASDs also have mitral valve prolapse.^[1]

References

↑ Leachman R, Cokkinos D, Cooley D (1976). “Association of ostium secundum atrial septal defects with mitral valve prolapse”. Am J Cardiol. 38 (2): 167–9. PMID 952260.

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[1] Leachman R, Cokkinos D, Cooley D (1976). “Association of ostium secundum atrial septal defects with mitral valve prolapse”. Am J Cardiol. 38 (2): 167–9. PMID 952260.

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