have you heard of vcfs..or 22q11.2? have your doctors mentioned this to you? it is so much more common than you think...ask your doctors for advice on this...there is so much help and support regarding this also..
Thanks for your response, Niko.
My daughter had av canal malformation, which was found before she was born. She grew tissue over her VSD, which closed the bottom half of her heart, which changed her defect to partial av canal or atrioventricular septal defect. She still has only one atrioventricular valve.
I dont think they actually tested her for any syndromes, they just said that she had none.
I forgot to mention that she has mild obstructive sleep apnea.
They did say when was pregnant that 80% of babies that have Av canal defect have downs , but she doesn't.
I don't know abou the other tests you mentioned; I would have to check with her dr.
Hi mamij.
Did your daughter have a mitral valve prolapse diagnosis?
Were her Hyaluronidase levels and her Hyaluronan viscosity checked?
This is challenging. It likely takes 3 specialities to piece this together.
Cardiologist, Rheumatologist and Genetisist.
Osteogenisis Imperfecta, Ehlers–Danlos syndrome, Marfan syndrome and their variants (genetic disorders ALL linked to cardiac defects and connective tissue disorder) have to be ruled out.
Also need to rule out Magnesium deficiency -tissue, not serum Mg.
Were any of these checked? Any other tests?
Let me know your thoughts on this and I'll wait for your answers, and any details you may want to add.
Take care.
Niko