Cor Vasa 2026, 68(1):111-118

Klippel-Trénaunay syndrome: the etiology, clinical presentation, and treatment options

Mária Rašiováa, Martin Koščoa, Marek Hudáka, Veronika Pavlíkováa, Adriana Rašiováb, Marta Bavoľárovác
a Faculty of Medicine, Department of Angiology, East Slovak Institute of Cardiovascular Diseases, Šafárik University, Košice, Slovakia
b Department of Medical and Clinical Biochemistry, Faculty of Medicine, Pavol Jozef Šafárik University in Košice, Košice, Slovakia
c Department of Internal Medicine and Cardiology, Štefan Kukura Hospital, Michalovce, Slovakia

Cieľ: Klippelov-Trénaunayov syndróm (KTS) je zriedkavá kombinovaná cievna malformácia spojená s nadmerným rastom končatiny. Cieľom tejto prehľadovej práce je zhrnúť súčasné poznatky o predpokladanej etiológii, najčastejších anomáliách spojených s KTS, diagnostickom prístupe a liečebných stratégiách.

Metódy: V období od januára do mája 2025 bola vykonaná analýza literatúry s využitím databáz PubMed a Google Scholar so zameraním na kľúčové pojmy Klippelov-Trénaunayov syndróm a PIK3CA-related overgrowth spectrum (PROS).

Záver: KTS sa prejavuje ako súbor vrodených malformácií postihujúcich končatinu a typicky postihuje jednostranne dolnú končatinu. Je dôsledkom postzygotnej aktivačnej mutácie v géne PIK3CA, ktorá vedie k nadmernej aktivácii signálnej dráhy PI3K-AKT-mTOR. Klinický obraz je variabilný, od miernych foriem až po závažné ochorenie s postihnutím viscerálnych orgánov a trombohemoragickými komplikáciami. Preferovanou zobrazovacou metódou na posúdenie rozsahu cievnych malformácií a postihnutia tkanív je MR angiografia. Liečba KTS si často vyžaduje multidisciplinárny prístup. V roku 2022 FDA schválila alpelisib ako systémovú liečebnú možnosť pre pacientov s ťažkými formami KTS. © 2025, ČKS.

Klíčová slova: Alpelisib, Klippelov-Trénaunayov syndróm, Liečba, PROS, Venózna malformácia

Vloženo: 6. červenec 2025; Revidováno: 6. červenec 2025; Přijato: 13. říjen 2025; Zveřejněno online: 2. červen 2012; Zveřejněno: 15. březen 2026  Zobrazit citaci

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Rašiová M, Koščo M, Hudák M, Pavlíková V, Rašiová A, Bavoľárová M. Klippel-Trénaunay syndrome: the etiology, clinical presentation, and treatment options. Cor Vasa. 2026;68(1):111-118.
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