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

08:00 EDT 27th October 2019 | BioPortfolio

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

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 no-response 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.

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Name: Cardiovascular & hematological agents in medicinal chemistry
ISSN: 1875-6182
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Medical and Biotech [MESH] Definitions

Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM.

Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.

A prostaglandin that is a powerful vasodilator and inhibits platelet aggregation. It is biosynthesized enzymatically from PROSTAGLANDIN ENDOPEROXIDES in human vascular tissue. The sodium salt has been also used to treat primary pulmonary hypertension (HYPERTENSION, PULMONARY).

A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)

A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous return, pulmonary venous and pulmonary arterial hypertension.

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