Pulmonary artery systolic pressure as estimated by TTE in a group of HHT patients.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) or Rendu syndrome-Osler-Weber disease, is an autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in specific locations mainly in liver, lungs and brain. The genes involved are two: ENG responsible for HHT1 and ACVRL1 associated with HHT2. We previously reported that estimated pulmonary artery systolic pressure (ePASP) was increased in a subgroup (9/68; 13,2%) of HHT patients in whom the clinical diagnosis defined according to Curaçao criteria was confirmed by the demonstration of mutations in ACVRL1 (Olivieri et al 2006). We extended our experience by performing Doppler transthoracic echocardiography (TTE) to estimate PASP in 104 patients (58 females), previously diagnosed with HHT according to Curaçao criteria. We found 79 ACVRL1 and 25 ENG mutations, and the distribution of the mutations in both genes resembles the general distribution in our lab. While no differences were observed for a ePASP in the whole group of HHT1/HHT2 patients, a trend for higher levels in HHT2 was observed when levels of a ePASP ≥40 mmHg were considered: HHT1 43,5±1,3.; 48,8±8,8 in HHT2. As expected a highly significant correlation was found between age and ePASP and, similarly, the presence of hepatic vascular malformations is significantly associated with the levels of ePASP in both HHT1/HHT2. Although not significant, the correlation between age and ePASP was slightly different in the two groups: the mean age of HHT1 showing values ≥40 mmHg was 72,2 while in HHT2 the mean age was 63,5