P708Patients with endoglin or ALK-1 mutation do not display an increased prevalence of Pulmonary Arterial Hypertension compared to controls.


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Abstract

Purpose: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited vascular dysplasia, caused by gene mutations encoding endoglin or ALK-1. According to the present guidelines on pulmonary hypertension (PHT), specific endoglin and ALK-1 mutations are related with the prevalence of PHT. However, data supporting this relation are based on small observational studies. Therefore, the aim of the present large prospective study was to evaluate the prevalence of all cause PHT on echocardiography in HHT-affected patients with an endoglin or ALK-1 mutation, compared with non-HHT controls.Methods: All consecutive persons screened for HHT between May 2004 and December 2010 underwent transthoracic echocardiography (TTE). Patients with an appropriate tricuspid insufficiency signal to measure the right-ventricular systolic pressure (RVSP) and a known endoglin or ALK-1 genetic mutation were included in this study. PHT was suspected if the RVSP was ≥30 mmHg.Results: In 411 of the 662 screened persons (62%) the RVSP could be reliably measured on TTE, in whom adefinite mutation analysis was available in 298 (73%) persons, an ALK-1 mutation in 91 patients (52% women, mean age 47±13 years), an endoglin mutation in 99 patients (60% women, mean age 42±15 years), and definite no mutation in 108 controls (70% women, mean age 42±16 years). The mean RVSP was 21±8 mmHg, 23±10 mmHg, and 21±8 mmHg respectively in these groups (p>0.05). A RVSP ≥ 30mmHg was found in 41 patients, of whom 17 (18.7%) ALK-1 mutation, 10 (10.1%) endoglin mutation carriers, and 14 (13.0%) controls (p=0.42).Conclusion: Our present large prospective study suggests that overall HHT-affected patients with an endoglin or ALK-1 mutation do not display an increased prevalence of PHT compared to controls on echocardiography. This suggests a very low prevalence of Pulmonary Arterial Hypertension in HHT patients.

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