Anomalies
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- ASD – most common 75% of patients have ASD
- Carpal bone malformations 100%
Multiple skeletal abnormalities including absent radius and absence and deformities along the radial aspect of the carpal and metacarpal bones
Courtesy Radiopaedia
Holt Oram Syndrome s characterised by radial abnormalities and in this case there is absence of the left thumb.
Courtesy Radiopaedia
The anatomical specimen shows a delicate septum primum held up with a forceps and a hole is noted in the middle characteristic of an ASD secundum. Unlike the first specimen this defect is a single hole surrounded by a partially intact septum primum. The fossa ovalis is a wide defect above the septum primum. Note the membrane like appearance of the septum primum in the neonate. This seems to add credence to the theory of van Praagh that the septum primum originates from a the left venous valve of the sinus venosus.
heart atrial septum ASD secundum septum primum pathology
Davidoff art copyright 2020 all rights reserved 01685b01c
The axial image through the heart at atrial septal level shows a flow void through a secundum ASD. The pink blood of the LA is shown shunting across and mixing with the blue blood of the enlarged RA.
01649b03 heart cardiac atrial septum secundum ASD secundum atrial septal defect secundum defect of the septum primum turbulence enlarged right atrium RAE right atrial enlargement congenital MRI Courtesy Ashley Davidoff MD copyright 2008
References and Links
Spiridon et al Holt-Oram Syndrome With Multiple Cardiac Abnormalities Cardiol Res. 2018 Oct; 9(5): 324–329. (has nice table of MSK abnormalities and cardiac abnormalities