Bibhuti B. Das* and Kak-Chen Chan Pages 70 - 76 ( 7 )
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.
CT angiography, digital subtraction pulmonary angiography, genetic tests, hereditary hemorrhagic telangiectasia, pulmonary hypertension, Long QT Syndrome.
Department of Pediatric Cardiology, Baylor College of Medicine, Texas Children’s Hospital, Austin Specialty Care, Austin, TX 78759, Joe DiMaggio Children’s Hospital Heart Institute, Memorial Healthcare System, Hollywood, FL 33021