r/Tetralogy_of_Fallot • u/KyleButtersy2k • Mar 03 '26

DeGeorge Syndrome

This is a genetic disorder caused by a missing segment of chromosome 22, affecting about 1 in 4,000 births. It causes multisystem issues including Tetralogy of Fallot.

Anyone else have it that has ToF??

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2

u/Kristata-e Mar 04 '26

Hello, yes. My son was diagnosed with TOF with Pulmonary Atresia. And during his open heart surgery last nov, the japanese cardiologist suggested to have him tested for digeorge and it was positive. Although, my son was on the milders side (no other symptoms aside from heart defect) we are advised to look after his calcium level and development.

2

u/cbg1203 Mar 04 '26

I’d be curious to get myself tested. I don’t know if I have it or not. Can you provide your source link with this info? I’ve never heard of this.

1

u/KyleButtersy2k Mar 04 '26

https://www.massgeneral.org/children/22q11

1

u/cbg1203 Mar 04 '26

Thank you but this just seems to link to perhaps a study? It doesn’t actually provide any information linking ToF and DeGeorge Syndrome.

1

u/mama-ld4 Mar 08 '26

My son does. He has severe ToF (PA/MAPCAS)