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

Cardiovasc Hematol Agents Med Chem. 2020;18(1):70-76. doi: 10.2174/1871525717666191028102503.

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; Long QT Syndrome; digital subtraction pulmonary angiography; genetic tests; hereditary hemorrhagic telangiectasia; pulmonary hypertension..

Publication types

  • Case Reports

MeSH terms

  • Angiography
  • Child
  • Echocardiography
  • Electrocardiography
  • Genetic Testing
  • Humans
  • Hypertension, Pulmonary* / diagnostic imaging
  • Hypertension, Pulmonary* / drug therapy
  • Hypertension, Pulmonary* / genetics
  • Long QT Syndrome* / diagnostic imaging
  • Long QT Syndrome* / drug therapy
  • Long QT Syndrome* / genetics
  • Male
  • Nadolol / therapeutic use
  • Phenylpropionates / therapeutic use
  • Pyridazines / therapeutic use
  • Sildenafil Citrate / therapeutic use
  • Syncope* / diagnostic imaging
  • Syncope* / drug therapy
  • Syncope* / genetics
  • Telangiectasia, Hereditary Hemorrhagic* / diagnostic imaging
  • Telangiectasia, Hereditary Hemorrhagic* / drug therapy
  • Telangiectasia, Hereditary Hemorrhagic* / genetics
  • Tomography, X-Ray Computed

Substances

  • Phenylpropionates
  • Pyridazines
  • Nadolol
  • Sildenafil Citrate
  • ambrisentan