Syncope in a Child with Pulmonary Hypertension and Positive Gene Tests for Hereditary Hemorrhagic Telangiectasia and Long QT Syndrome

Author(s): Bibhuti B. Das*, Kak-Chen Chan.

Journal Name: Cardiovascular & Hematological Agents in Medicinal Chemistry
(Formerly Current Medicinal Chemistry - Cardiovascular & Hematological Agents)

Volume 18 , Issue 1 , 2020

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Graphical Abstract:


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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Article Details

Year: 2020
Page: [70 - 76]
Pages: 7
DOI: 10.2174/1871525717666191028102503
Price: $65

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