Can vascular anomalies of the heart be detected by echocardiogram or high-resolution chest CT? We have just found out that our children, who have a disorder called primary ciliary dyskinesia (PCD), are at risk for cardiac malformations that might not be picked up in infancy. The children's father has been diagnosed with a transposition issue with his right main coronary artery during a cardiac cath and is scheduled for surgery. Their uncle died suddenly from the same defect at age 44. We are being told it is not necessary to do additional assessment on the children because they have had normal echocardiograms and no vascular anomalies showed up on chest HRCT. Should we be pushing for additional assessment? My daughter had an echo several years ago due to episodes of passing out (echo was normal). She has left-isomerism with polysplenia. My son (age 17) is currently being treated for hypertension (requiring 3 medications) and chest pain. He has had a chest CT and an EKG, which were okay. His problems are assumed to be lingering issues from a bad pneumonia he had last November. He has normal situs. We carry a DNAH5 mutation in the family. I would be grateful for any insight.
Reference article; 1: Circulation. 2007 May 21; [Epub ahead of print]
Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of
Patients With Primary Ciliary Dyskinesia.