(II-1A.5) A 39-year-old woman with atypical variant of Klippel-Trenaunay syndrome and progressive thromboembolic pulmonary hypertension, successfully treated by pulmonary thromboendarterectomy Poręba M, Misztal M, Biederman A, Skrzypek A, Szatkowski P, Pirsztuk E, Czernecka-Mroczek D, Gackowski A , Nessler J

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular malformation of veins, capillaries and lymphatic vessels which can be associated with thromboembolic events. We report on a female with severely complicated course of the disease.

Case presentation
We present a case of 39-year-old female with Klippel-Trenaunay syndrome (KTS) complicated by deep vein thrombosis and chronic thromboembolic pulmonary hypertension (CTEPH). Our patient was operated in adolescence and severe varicosities of her lower limb were excised. After second pregnancy she developed pulmonary embolism (PE) and was treated with vitamin K antagonists (VKA) and implantation of vena cava filter. Despite chronic VKA therapy she developed severe pulmonary embolism again. We present our TTE studies, X-ray and CT scans confirming the diagnosis of pulmonary hypertension. Because of sudden worsening of her cardiopulmonary status she was send to Cardiac Surgery Department and underwent pulmonary thromboendarterectomy. After operation pulmonary artery catheterization confirmed significant improvement and TTE demonstrated normal diameter and function of her right cardiac chambers. At one year follow-up her functional status returned to NYHA class I
We conclude that vascular anomalies existing in KTS though presenting locally are responsible for general hypercoagulability. We also wonder what should be proper treatment and which diagnostic tests should be performed in order to prevent the patient from severe thromboembolic pulmonary hypertension.

Current guidelines
The presented case confirms that recurrent thromboembolic events are possible in KTS patients and may persist in spite of implantation of IVC filter. Proper anticoagulation, search for additional vascular anomalies and atypical thrombosis sites is necessary. Pulmonary thromboendarterectomy in experienced hands may be a safe and effective method of treatment for the properly selected KTS patients with CTEPH. KTS patients require a multidisciplinary diagnostic and therapeutic approach to manage this rare disease at the very early stage.


Expert’s comments:(Written authorization required from each expert)

1. Jakub Podolec, MD, PhD
This is a very interesting case of Klippel-Trenaunay syndrome. As it has been proven in numerous imaging studies she developed several pulmonary embolism in the course of the disease. Pulmonary thrombendarterectomy was a proper decision. In spite of the presence of inferior vena cava filter she should be attentively treated with vitamin K antagonists.

Expert’s conclusions:
Patients remains in close follow-up group. Anticoagulation is mandatory in this patient.

Poręba M1, Misztal M1, Biederman A2, Skrzypek A1, Szatkowski P2, Pirsztuk E3, Czernecka-Mroczek D1, Gackowski A1 , Nessler J1

Jakub Podolec, MD, PhD 4

1Coronary Artery Disease Department in John Paul II Hospital, Institute of Cardiology, Jagiellonian University, Krakow, Poland.
2Department of Cardiac Surgery, Praski Hospital, Warsaw, Poland.
3Department of Anesthesiology, Praski Hospital, Warsaw, Poland.
4Hemodynamics and Angiocardiography Department, Collegium Medicum Jagiellonian University, Krakow, Poland, John Paul II Hospital, Krakoów, Poland


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