PURPOSE OF REVIEW: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. RECENT FINDINGS: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. SUMMARY: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel-Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel-Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results.
PURPOSE OF REVIEW: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. RECENT FINDINGS: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. SUMMARY: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel-Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel-Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results.
Authors: Abhinav Srinath; Ying Li; Romuald Girard; Issam A Awad; Sharbel G Romanos; Bingqing Xie; Chang Chen; Yan Li; Thomas Moore; Dehua Bi; Je Yeong Sone; Rhonda Lightle; Nick Hobson; Dongdong Zhang; Janne Koskimäki; Le Shen; Sara McCurdy; Catherine Chinhchu Lai; Agnieszka Stadnik; Kristina Piedad; Julián Carrión-Penagos; Abdallah Shkoukani; Daniel Snellings; Robert Shenkar; Dinanath Sulakhe; Yuan Ji; Miguel A Lopez-Ramirez; Mark L Kahn; Douglas A Marchuk; Mark H Ginsberg Journal: Transl Stroke Res Date: 2022-06-17 Impact factor: 6.829
Authors: Vanessa F Schmidt; Max Masthoff; Michael Czihal; Beatrix Cucuruz; Beate Häberle; Richard Brill; Walter A Wohlgemuth; Moritz Wildgruber Journal: Mol Cell Pediatr Date: 2021-12-07