sildenafil-citrate and Syncope

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.

Topics: Angiography; Child; Echocardiography; Electrocardiography; Genetic Testing; Humans; Hypertension, Pulmonary; Long QT Syndrome; Male; Nadolol; Phenylpropionates; Pyridazines; Sildenafil Citrate; Syncope; Telangiectasia, Hereditary Hemorrhagic; Tomography, X-Ray Computed

Topics: Acetamides; Adolescent; Antihypertensive Agents; Asymptomatic Diseases; Bone Morphogenetic Protein Receptors, Type II; Cardiac Catheterization; Disease Progression; Dyspnea; Echocardiography; Exercise Tolerance; Female; Genetic Testing; Heterozygote; Humans; Male; Phenylpropionates; Pulmonary Arterial Hypertension; Pyrazines; Pyridazines; Sildenafil Citrate; Syncope; Vasodilator Agents

The authors report a case of severe pulmonary arterial hypertension (PAH) in a 75-year-old woman who had received a diagnosis of neurofibromatosis type 1 (NF1) 23 years before. She presented with progressive dyspnoea and recurrent syncope. Even though the patient initially improved after starting supportive and specific treatment for PAH, she then deteriorated and died from respiratory failure 11 months after the diagnosis of PAH. Prompt recognition of such an unusual association between PAH and NF1 and appropriate therapeutic intervention could ameliorate quality of life and prolong survival in this patient population.

Topics: Aged; Anticoagulants; Combined Modality Therapy; Diuretics; Dyspnea; Fatal Outcome; Female; Follow-Up Studies; Furosemide; Humans; Hypertension, Pulmonary; Neurofibromatosis 1; Oxygen Inhalation Therapy; Piperazines; Purines; Recurrence; Sildenafil Citrate; Spironolactone; Sulfones; Syncope; Vasodilator Agents

Pulmonary arterial hypertension (PAH) is a rare complication of glycogen storage disease (GSD), and several cases with a poor outcome have been reported. A 17-year-old boy, who was diagnosed with GSD at 1 year of age, complained of shortness of breath on exertion, and was diagnosed with PAH based on the echocardiographic findings. Beraprost sodium (BPS) was started, and his symptoms improved after 3 months of treatment. Eighteen months later, he experienced frequent episodes of syncope. Because increasing the dose of BPS was ineffective, he was admitted to hospital. The echocardiogram showed marked elevation of the right ventricular pressure and low cardiac output, and his symptoms deteriorated despite continuous infusion of olprinone hydrochloride. Because a single dose of sildenafil increased his cardiac output, treatment with 25 mg sildenafil twice daily was started. His symptoms gradually ameliorated, and 3 weeks later he left the hospital. Two months after starting sildenafil, the cardiac index and the serous B-type natriuretic peptide concentration had become normal. Sildenafil may be effective in patients with secondary PAH and in patients who have developed tolerance to BPS.

Topics: Administration, Oral; Adolescent; Antihypertensive Agents; Drug Tolerance; Echocardiography; Electrocardiography; Epoprostenol; Glycogen Storage Disease Type I; Hemodynamics; Humans; Hypertension, Pulmonary; Male; Natriuretic Peptide, Brain; Piperazines; Purines; Severity of Illness Index; Sildenafil Citrate; Sulfones; Syncope; Treatment Outcome; Vasodilator Agents

Topics: Adult; Coronary Disease; Electrocardiography; Emergency Treatment; Humans; Hypercholesterolemia; Male; Myocardial Infarction; Phosphodiesterase Inhibitors; Piperazines; Purines; Sildenafil Citrate; Sulfones; Syncope