title: Pulmonary Hypertension in Hereditary Hemorrhagic Telangiectasia.
abstract: BACKGROUND
  A subset of patients with hereditary hemorrhagic telangiectasia (HHT) develops pulmonary hypertension (PH) by mechanisms including pulmonary arterial hypertension, high flow, and elevated pulmonary arterial wedge pressure (PAWP). We aimed to describe echocardiographic and hemodynamic characteristics of patients with coexisting HHT and PH.
  
  
  METHODS
  We conducted a single-center cohort study of patients with confirmed HHT who underwent right-sided heart catheterization (RHC) and transthoracic two-dimensional echocardiography for suspected PH between June 1, 2003 and September 1, 2013 at Mayo Clinic Rochester, Minnesota.
  
  
  RESULTS
  Of 38 patients with confirmed HHT who underwent RHC and echocardiography, 28 (74%) had a mean pulmonary artery pressure (MPAP) ≥ 25 mm Hg. Of those 28, 12 (43%) had pulmonary arterial hypertension. Two patients had normal PAWP and pulmonary vascular resistance (PVR), with PH secondary to either an atrial septal defect or high cardiac flow. Fourteen patients (50%) had elevated PAWP (≥ 15 mm Hg), nine with evidence of high flow. RHC in all 28 patients demonstrated a MPAP of 41 ± 11 mm Hg, PAWP of 17 ± 10 mm Hg, and PVR of 4.5 ± 4.2 Wood units. Echocardiography demonstrated moderate/severe right ventricular dysfunction in nine patients (32%). The presence of PH trended toward worse survival (P = .06).
  
  
  CONCLUSIONS
  PH in patients with HHT occurs by different mechanisms, and there is a trend toward worse survival in patients who develop PH despite the mechanism. The equal predilection toward all subtypes of PH illustrates the necessity of RHC to clarify the hemodynamics.
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Lyle
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Cardiovascular Disease, Mayo Clinic, Rochester, MN.
authors.forename: Eric R
authors.initials: ER
authors.lastname: Fenstad
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Cardiovascular Disease, Mayo Clinic, Rochester, MN.
authors.forename: Michael D
authors.initials: MD
authors.lastname: McGoon
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Cardiovascular Disease, Mayo Clinic, Rochester, MN.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Frantz
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Krowka
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Cardiovascular Disease, Mayo Clinic, Rochester, MN.
authors.forename: Garvan C
authors.initials: GC
authors.lastname: Kane
authors.affiliation: Division of Internal Medicine, Mayo Clinic, Rochester, MN; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN; Division of Pulmonary Medicine, Mayo Clinic, Scottsdale, AZ. Electronic address: swanson.karen@mayo.edu.
authors.forename: Karen L
authors.initials: KL
authors.lastname: Swanson
mesh_terms: D006328:Cardiac Catheterization; D005260:Female; D005492:Folic Acid / Q000031:analogs & derivatives; D005500:Follow-Up Studies; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D011669:Pulmonary Wedge Pressure / Q000502:physiology*; D012189:Retrospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*; D014655:Vascular Resistance / Q000502:physiology*; D016278:Ventricular Function, Right / Q000502:physiology; D014748:Vinca Alkaloids
chemical_list: C556242:EC 0489; D014748:Vinca Alkaloids; D005492:Folic Acid
keywords: genetics; hereditary hemorrhagic telangiectasia; hypertension; pulmonary arterial hypertension; pulmonary hypertension