Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability

Abstract

BackgroundDifferent pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT).Methods and resultsWe conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines. Among 2,598 patients in the database, 110 (4.2%) had suspected PH. Forty-seven of these 110 patients had RHC: 38/47 (81%) had a confirmed diagnosis of PH. The majority of these had isolated post-capillary PH (n = 20). We identified for the first time other haemodynamic profiles: pre-capillary pulmonary arterial hypertension (PAH) cases (n = 3) with slightly raised pulmonary vascular resistances (PVR), and combined post- and pre-capillary PH cases (n = 4). Compared to controls, survival probability was lower in patients with PAH.ConclusionThis study revealed the diversity of PH mechanisms in HHT. The description of combined post- and pre-capillary PH with/or without high cardiac output (CO) suggests either a continuum between the pre- and post-capillary haemodynamic profiles or a different course in response to high CO.

Urologic Surgery with Multisystem Comorbidities: A Case Report

“…In addition, maintaining sinus rhythm, optimizing preload, and coronary perfusion help to augment right ventricular function [ 9 ]. Post-capillary pulmonary hypertension, the most common form in both the general population and patients with HHT, is distinguished by elevated pulmonary arterial occlusion pressure and also requires optimization of left-sided heart function [ 8 – 10 , 14 ]. Patients presenting with class IV symptoms may be considered to be at prohibitive risk for elective surgery [ 14 ].…”

“…Diagnosis is definite, possible, or unlikely based on the Curçao Criteria, including spontaneous recurrent epistaxis, telangiectasias, AVMs, and a familial inheritance pattern [ 1 – 3 , 5 , 6 ]. Disease subtype (1–4) is based upon the identified gene mutation, which includes active receptor-like kinase 1 gene (ALK1), endoglin gene (ENG), and mothers against decapentaplegic homolog 4 gene (MADH4), which are involved in the TGF-beta signaling pathway [ 1 – 3 , 5 , 7 , 8 ]. Epistaxis is common due to vascular malformations of the oropharyngeal mucosa [ 1 ].…”

“…Hemoptysis also occurs with less frequency due to the presence of pulmonary AVMs in 40–60% of patients [ 1 , 3 , 5 ]. Pulmonary hypertension recognized in patients either preceding or following the diagnosis of HHT can be a severe manifestation, for which the genetic basis remains undetermined [ 2 , 7 , 8 ]. Hemodynamics consistent with pre-capillary pulmonary hypertension in HHT includes low cardiac output, normal pulmonary capillary wedge pressure, and high PVR [ 2 ].…”

“…Standard pre-operative screening includes assessment of functional class, cause, exercise tolerance, pulmonary vascular hemodynamics, and overall risks, benefits, and timing of the proposed intervention or surgery in an optimized patient [ 11 , 14 ]. Resting mean pulmonary artery pressures greater than 25 mmHG in the setting of pulmonary vascular resistance greater than 240 dyn s/cm 5 and pulmonary arterial occlusion pressure less than or equal to 15 mmHG support the diagnosis of pulmonary artery hypertension [ 2 , 8 – 10 , 12 , 14 , 16 , 19 ].…”

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

“…Furthermore, all other forms of PH, not related to HHT, could exist in HHT patients as well. The overall occurrence of echocardiographic-based suspected PH in unselected HHT patients is found between 4% and 20% [ 45 , 54 , 56 , 81 ]. We previously described that RHC is indispensable in symptomatic cases since subclassification of PH is based on invasive measurement of haemodynamics.…”