Hereditary Hemorrhagic Telangiectasia Presenting as High Output Cardiac Failure during Pregnancy

Abstract

High-output cardiac failure secondary to hepatic involvement is a rare complication of hereditary hemorrhagic telangiectasia (HHT). Here we report a 43-year-old woman who presented at 29 weeks gestation of her second pregnancy with complications of right-sided heart failure and preterm labor. After delivery via cesarean section, the patient was found to have intrahepatic arteriovenous malformations through non-invasive imaging. Subsequently, a family history of vascular malformations and epistaxis was elucidated and a diagnosis of HHT was made. This case is presented, along with a review of the literature and discussion of hepatic involvement in HHT with particular focus on the pregnant patient.

Cardiac function modulates endocardial cell dynamics to shape the cardiac outflow tract

“…This role of the Acvrl1 pathway has the potential to be conserved in mammals: it is intriguing to note that mice lacking the Acvrl1 coreceptor Endoglin exhibit misshapen OFT morphology (Arthur et al, 2000). The function of Acvrl1 during OFT morphogenesis has not been examined directly in mice, and it is not known whether the instances of cardiac failure in mouse Acvrl1 mutants (Morine et al, 2017a;Morine et al, 2017b) or in human HHT2 patients (Cho et al, 2012;Goussous et al, 2009) are associated with defective cardiac development. Since our studies assert that Acvrl1 is a key mediator of endothelial displacement during OFT endocardial expansion in zebrafish, it will be worthwhile for future studies to investigate whether any early defects in OFT development appear in mice lacking Acvrl1.…”

Two Cases of High Output Heart Failure Caused by Hereditary Hemorrhagic Telangiectasia

“…But liver involvement tends to be asymptomatic in majority of cases and the frequency of symptomatic hepatic involvement is less than 10% 1). Although heart failure secondary to the hyperdynamic circulatory situation caused by arteriovenous fistulas is a well-known clinical entity, the clinical presentation of heart failure is very rare in HHT 3). The physiological mechanism in high output heart failure is of reduced systemic vascular resistance.…”

“…High-output cardiac failure is a rare complication of HHT3) usually caused by shunting of blood through AVMs in the liver. We describe two cases of high output heart failure due to large hepatic AVMs, highlighting their importance in the differential diagnosis of heart failure syndromes.…”

Pregnancy and Vascular Liver Disease

“…Most had standard management of heart failure and recovered in the first postpartum months. [56][57][58][59] One had recurrent bacterial cholangitis after delivery and required liver transplantation. 60 In patients with the sinusoidal obstruction syndrome, blood flow in the sinusoids is impaired, leading to liver dysfunction.…”