Ventricular aneurysm and myocarditis in a child with the hyperimmunoglobulin E syndrome

Noor, Irum; Venugopalan, P; Johnston, William F.; Froude, John R. L.

doi:10.1093/oxfordjournals.eurheartj.a060980

Cited by 8 publications

(4 citation statements)

References 6 publications

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“…These findings prompt us to conclude that patients with STAT3 deficiency are prone to developing a systemic, vascular disease, regardless of the presence or absence of vascular risk factors and, apparently, infectious complications; however, a potential infectious etiology should always be screened for, since 3 cases of mycotic aneurysm have been reported. 8,31,32 The results of common carotid artery hemodynamic measurements revealed an abnormally low IMT and a marked greater circumferential wall stress in patients with STAT3 deficiency; these findings suggest a defect in tensile stress mechanotransduction and a subsequent propensity for arterial dilation and tortuosity in many arterial sites. These data are reminiscent of the inherited EhlersDanlos vascular-type syndrome, 23,33 in which hyperextensibility with scoliosis and other musculoskeletal disorders are major features, a strikingly similar situation to STAT3-deficiency.…”

Section: Chandesris Et Al Vascular Abnormalities In Human Stat3 Deficmentioning

confidence: 96%

Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency

Chandesris

Azarine

Ong

et al. 2012

Circ Cardiovasc Genet

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Background-Signal transducer and activator of transcription 3 (STAT3) deficiency is responsible for autosomal dominant hyperimmunoglobulin E syndrome, characterized by recurrent bacterial and fungal infections, connective tissue abnormalities, hyperimmunoglobulin E, and Th17 lymphopenia. Although vascular abnormalities have been reported in some patients, the prevalence, characteristics, and etiology of these features have yet to be described. Methods and Results-We prospectively screened 21 adult STAT3-deficient patients (median age: 26 years; range 17-44 years) for vascular abnormalities. We explored the entire arterial vasculature with whole-body magnetic resonance imaging angiography, coronary multislice computed tomography, and echo-tracking-based imaging specifically for the carotid arteries. We also assayed for serum biomarkers of inflammation and endothelial dysfunction. Finally, we studied murine models of aortic aneurysm in the presence and absence of inhibitors of STAT3-dependent signaling. Ninety-five percent of patients showed brain abnormalities (white matter hyperintensities, lacunar lesions suggestive of ischemic infarcts, and atrophy). We reported peripheral and brain artery abnormalities in 84% of the patients and detected coronary artery abnormalities in 50% of the patients. The most frequent vascular abnormalities were ectasia and aneurysm. The carotid intima-media thickness was markedly decreased, with a substantial increase in circumferential wall stress, indicating the occurrence of hypotrophic arterial remodeling in this STAT3-deficient population. Systemic inflammatory biomarker levels correlated poorly with the vascular phenotype. In vivo inhibition of STAT3 signaling or blockade of IL-17A resulted in a marked increase in aneurysm severity and fatal rupture in mouse models. Conclusions-Vascular abnormalities are highly prevalent in patients with STAT3 deficiency. This feature is consistent with the greater susceptibility to vascular aneurysm observed after inhibition of STAT3-dependent signaling in mouse models. (Circ Cardiovasc Genet. 2012;5:25-34.)

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Section: Chandesris Et Al Vascular Abnormalities In Human Stat3 Deficmentioning

confidence: 96%

Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency

Chandesris

Azarine

Ong

et al. 2012

Circ Cardiovasc Genet

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show abstract

“…[49][50][51][52] Other reported associations with HIES include two cases of giant chalazia, bilateral keratoconus, ventricular aneurysm with myocarditis, autism and mental retardation, and nephrotic syndrome. [53][54][55][56][57] Therapeutics…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Hyperimmunoglobulin E syndrome: Two cases and a review of the literature

DeWitt

Bishop

Buescher

et al. 2006

Journal of the American Academy of Dermatology

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“…In animal experiments, cardiac myocyte-specific STAT3 deficiency in mice leads to cardiomyopathy with early cardiac failure (8). However, to the best of our knowledge, neither cardiomyopathy nor myocarditis has been reported in patients with HIES, except for a presumptive diagnosis of myocarditis in a 2-year-old child that was not specified by a biopsy (9). In our patient, lymphocytic myocarditis was biopsy-diagnosed and did not seem to be secondary to infection.…”

Section: Discussionmentioning

confidence: 50%