We’re not sure you can really answer this question but here goes. How much medical testing is really needed to tell if a child has something called Loeys-Dietz? This concerns our adult foster daughter who has a child with this condition. The genetic testing has confirmed it, so why do they have to do more X-rays, CT scans, and an echocardiogram?

Loeys-Dietz is a genetic disorder that can affect many different parts of the body. Once it is confirmed with genetic testing, then the specifics of what went wrong must be determined. For example, there can be aneurysms anywhere in the body. An aneurysm is a weakness or thinning of the blood vessel wall. With enough blood pressure, the defect in the blood vessel wall can burst, causing serious hemorrhaging.

Head through pelvis imaging is done to look for places where aneurysms are present. The physician uses this information to determine treatment. In some cases, blood pressure medication may be all that’s needed. With more severe aneurysms, it may be necessary to do surgery to repair this problem.

Echocardiography and CT scans are also used to show details of the blood vessels. Besides aneurysms, some of the blood vessels can be twisted and malformed.

X-rays are another way to identify skeletal problems such as scoliosis, cervical (neck) instability, hip socket malformation (dysplasia), or other orthopedic deformities. The same reason applies: early identification can lead to early treatment and prevention of long-term problems and complications.