The presence of Timothy Syndrome may be suspected based on prenatal findings.


Prenatal findings that can be seen in a fetus with Timothy syndrome:

(1) signs of fetal distress

(2) bradycardia (heart rates much less than a normal 120 to 150 beats per minute)

(3) 2:1 AV block


Findings that can be seen on fetal echocardiography:

(1) biventricular hypertrophy (cardiomyopathy)

(2) congenital heart defect (patient ductus arteriosus, atrial or ventricular septal defect, tetralogy of Fallot, other)


Once the diagnosis is suspected then other features can be looked for like syndactyly.


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