Successful treatment of a congenital extra-truncal vascular malformation by orally administered propranolol

Pföhler, Claudia; Janssen, Eva; Buecker, Arno; Vogt, Thomas; Müller, Tanja R.

doi:10.3109/09546634.2013.869301

Cited by 13 publications

(11 citation statements)

References 18 publications

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“…To put it into context, we also evaluated the efficacy of other agents that have been proposed to inhibit the growth of VM, including rapamycin analogs and propranolol ( 11 , 68 ). The greatest growth inhibition was achieved when treating allograft transplants with a PI3Kα inhibitor or the rapamycin analog everolimus, but no effect was observed with propranolol.…”

Section: Discussionmentioning

confidence: 99%

Somatic PIK3CA mutations as a driver of sporadic venous malformations

et al. 2016

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Venous malformations (VM) are vascular malformations characterized by enlarged and distorted blood vessel channels. VM grow over time and cause substantial morbidity because of disfigurement, bleeding, and pain, representing a clinical challenge in the absence of effective treatments (Nguyen et al., 2014; Uebelhoer et al., 2012). Somatic mutations may act as drivers of these lesions, as suggested by the identification of TEK mutations in a proportion of VM (Limaye et al., 2009). We report that activating PIK3CA mutations gives rise to sporadic VM in mice, which closely resemble the histology of the human disease. Furthermore, we identified mutations in PIK3CA and related genes of the PI3K (phosphatidylinositol 3-kinase)/AKT pathway in about 30% of human VM that lack TEK alterations. PIK3CA mutations promote downstream signaling and proliferation in endothelial cells and impair normal vasculogenesis in embryonic development. We successfully treated VM in mouse models using pharmacological inhibitors of PI3Kα administered either systemically or topically. This study elucidates the etiology of a proportion of VM and proposes a therapeutic approach for this disease.

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Section: Discussionmentioning

confidence: 99%

Somatic PIK3CA mutations as a driver of sporadic venous malformations

et al. 2016

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“… 9 , 10 Several reports have documented the successful treatment of proliferative infantile hemangiomas with oral propranolol. 5 In our AVM case, oral propranolol induced significant remission of the patch and full regression of the right lower limb hypertrophy. Propranolol was well tolerated and reasonably safe over a treatment period of 5 months.…”

Section: Discussionmentioning

confidence: 53%

“…Propranolol is a nonselective blocker of the β-adrenergic receptor and has been used for treatment of proliferative infantile hemangiomas. 5 The vasoconstrictive and antiangiogenic effects of propranolol led us to explore its potential application for the treatment of AVMs. Herein, we report on a 19-year-old woman with a diagnosis of an AVM presenting with a large patch and right lower limb hypertrophy.…”

Section: Introductionmentioning

confidence: 99%

Propranolol as a potentially novel treatment of arteriovenous malformations

Anvari

Wang

et al. 2018

JAAD Case Reports

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“…A few case reports have reported a role for novel antiangiogenic therapeutics in peripheral AVMs (27)(28)(29). The expression of integrin a v b 3 in peripheral AVMs paves the way to further evaluation of antiangiogenic treatments for AVMs and the role of 68 Ga-RGD PET/CT in the development of these therapies.…”

Section: Discussionmentioning

confidence: 99%