Haemodynamic alterations associated with hepatic vascular malformations in hereditary haemorrhagic telangiectasia: A cohort study.

BACKGROUND & AIMS: Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, frequently associated with hepatic vascular malformations (HVMs). Up to 78% of patients develop HVMs, which may lead to haemodynamic alterations, increased cardiac preload, and progression to high-output heart failure (HOHF). The aim was to determine the prevalence of HOHF and assess the relationship between HVM severity, stroke volume, and cardiac index in patients with HHT. A secondary aim was to explore the haemodynamic mechanisms underlying HOHF and evaluate the usefulness of transthoracic echocardiography (TTE).

METHODS

In this cohort study, all adult patients with HHT registered in the national Danish HHT database and residing in the regions of Zealand and Southern Denmark were invited to participate. Participants underwent clinical evaluation, hepatic Doppler ultrasound, and TTE. HVM severity was graded according to the Buscarini classification from 0 to 4.

RESULTS

Of 203 eligible patients, 152 (75%) participated. The mean age was 51 years (range 18-84) years, and 57.9% were female. HVMs were identified in 103 patients (67.8%), of whom 24 (15.8%) had grade 4 HVMs. HOHF was present in 10 patients (6.6%), nine of whom (90%) had grade 4 HVMs. Cardiac index measured by TTE correlated positively with HVM severity (ρ = 0.36, p <0.001), with a mean increase of 0.81 L/min/m2 between HVM grades 0-1 and grade 4 (95% confidence interval 0.48-1.13).

CONCLUSIONS

HOHF was present in 6.6% of patients, predominantly in those with severe HVMs. Stroke volume and cardiac index increased in parallel with HV severity. TTE might be a useful non-invasive tool for identifying patients at risk of haemodynamic complications.

IMPACT AND IMPLICATIONS: Increasing HVM severity in HHT was associated with a higher cardiac index and clarified the haemodynamic basis of clinical high-output states. These findings may help clinicians identify patients at the greatest risk of this complication, even before symptom manifestation, supporting the use of TTE alongside hepatic Doppler ultrasound for monitoring and early intervention.