We present a 10-year-old boy with syncope who was found to have long-QT syndrome
and severe Pulmonary Hypertension (PH) both in the absence of a secondary cause; to our
knowledge, this is the first report with this unusual coexistence. His genetic tests were positive for
hereditary hemorrhagic telangiectasia and Long QT Syndrome (LQTS) without any family history of
PH or LQTS. We demonstrated that digital subtraction pulmonary angiography was more useful
compared to CT angiogram to demonstrate pulmonary vascular changes which correlated with a noresponse
to acute vasoreactivity testing during right heart catheterization. He has been stable for the
last 2 years on Ambrisentan, Sildenafil, and Nadolol without recurrence of symptoms.
Keywords: CT angiography, digital subtraction pulmonary angiography, genetic tests, hereditary hemorrhagic telangiectasia,
pulmonary hypertension, Long QT Syndrome.
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