Coronary artery abnormalities in Hyper-IgE syndrome

Abstract

Objective: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency caused by autosomal dominant STAT3 mutations resulting in recurrent infections and connective tissue abnormalities. Coronary artery abnormalities have been reported infrequently. We aimed to determine the frequency and characteristics of coronary artery abnormalities.

Design: STAT3-mutated HIES patients (n=38), ranging in age from 8 to 57 years, underwent coronary artery imaging by computed tomography or magnetic resonance imaging. Images were evaluated for tortuosity, dilation, and aneurysm. Charts were reviewed for cardiac risk factors. To allow blinded image interpretation, an age- and gender-matched non-HIES group was also evaluated (n=33).

Results: Coronary artery tortuosity or dilation occurred in 70% of HIES patients, with aneurysms present in 37%, incidences much higher than in the literature and in our non-HIES group, in which 21% had tortuosity or dilation and 3% had aneurysms. Hypertension was more common in the HIES group than in the general population and was associated with vessel abnormalities. Atherosclerosis was uncommon and mild.

Conclusions: Coronary artery aneurysms and tortuosity are common in HIES, despite a paucity of atherosclerosis, suggesting that STAT3 plays an integral role in human vascular remodeling and atherosclerosis.

Fig. 1

3D shaded surface display images of whole heart and coronary arteries in three patients with hyper-IgE recurrent infection syndrome. A, Image in 30-year-old man shows tortuous right coronary artery (RCA) (red arrow) and ectatic left anterior descending coronary artery (LAD) (yellow arrow). B, Image in 37-year-old woman shows less tortuous but ectatic RCA (arrow). C, Image in 45-year-old man shows relatively straightened RCA (red arrow) in comparison with A and B and aneurysm of LAD (yellow arrow).

Fig. 2

Multiplanar reconstruction stretch views of right coronary artery (RCA) in patients with hyper-IgE recurrent infection syndrome. A, Image in 37-year-old woman shows tortuous RCA (arrow). B, Image in 53-year-old woman shows RCA (arrow) that is less tortuous but more dilated than A, measuring up to 5 mm in diameter. C, Image in 45-year-old man shows severely dilated RCA (arrow) with minimal tortuosity, measuring up to 8 mm in diameter.

Fig. 3

Multiplanar reconstruction stretch views of left anterior descending coronary artery (LAD) in patients with hyper-IgE recurrent infection syndrome. A, Image in 53-year-old woman shows ectatic proximal–mid segment of LAD (arrow) measuring up to 4.5 mm in diameter compared with more proximal portion of vessel, which measures 2.5 mm. B, Image in 45-year-old man shows ectatic segment of proximal LAD and aneurysm of mid LAD (arrow) measuring up to 7.5 mm in diameter with filling defect, suggestive of clot.