Successful Pulmonary Thromboendarterectomy in a Patient With Klippel-Trenaunay Syndrome

doi:10.1378/chest.117.5.1520

Chest

Volume 117, Issue 5, May 2000, Pages 1520-1522

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Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by a triad of cutaneous vascular nevi, soft tissue or bony hypertrophy, and varicose veins or venous malformations involving one or more extremities. An incidence of venous thromboembolism of up to 22% has been reported in this disorder. Also reported is the development of chronic thromboembolic pulmonary hypertension (CTEPH) and subsequent death from right ventricular failure. We report the first patient with KTS to undergo a successful pulmonary thromboendarterectomy for CTEPH.

Section snippets

Case Report

A 24-year-old man with KTS was referred to University of California, San Diego Medical Center for evaluation of his pulmonary hypertension. The patient experienced a pulmonary embolic event 2.5 years prior to admission following a surgical procedure. There was no evidence of lower extremity venous thrombosis by duplex ultrasonography, although the examination was reported to be incomplete. He was treated with heparin, then warfarin for 4 months. He presented again 14 months later with dyspnea,

Discussion

The literature suggests that venous thromboembolism is common among patients with KTS, with a frequency in larger series ranging from 8 to 22%.1, 4 However, the precise mechanism for this increased thromboembolic risk remains unclear. One study, utilizing both venography and impedance plethysmography, did not demonstrate an anatomic difference to explain the increased incidence of venous thromboembolism in a subgroup of KTS patients with thromboembolism compared to KTS patients without

ACKNOWLEDGMENT

The authors thank Dr. Steven H. Kirtland for his assistance in providing follow-up clinical information.

References (12)

AG Jacob et al.
Klippel-Trenaunay syndrome: spectrum and management
Mayo Clin Proc
(1998)
A Gianlupi et al.
Recurrent pulmonary embolism associated with Klippel-Trenaunay-Weber syndrome
Chest
(1999)
PF Fedullo et al.
Chronic thromboembolic pulmonary hypertension
Clin Chest Med
(1995)
SC Muluk et al.
Klippel-Trenaunay syndrome with multiple pulmonary emboli: an unusual cause of progressive pulmonary dysfunction
J Vasc Surg
(1995)
DH Stone et al.
A unique approach in the management of vena caval thrombosis in a patient with Klippel-Trenaunay syndrome
J Vasc Surg
(1997)
E Ascer et al.
Superior vena caval Greenfield filters: indications, techniques, and results
J Vasc Surg
(1996)

There are more references available in the full text version of this article.

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Chronic Thromboembolic Pulmonary Hypertension Due to a Rare Anterior Mediastinal Venous Malformation
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Seventeen percent of patients had a history of DVT, or PE associated with dyspnea.34 Pulmonary thromboendarterectomy rarely has been reported in patients with a venous malformation and pulmonary embolization, again most notably in patients with KTS, with variable outcomes and the earliest case being reported in 1991.26,35-37 The authors’ patient had no history of any genetic disorder or underlying hypercoagulable state.
Klippel-Trenaunay syndrome as a rare cause of chronic thromboemboembolic pulmonary hypertension
2019, Respiratory Medicine and Research
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The incidence of CTEPH after symptomatic pulmonary embolism ranges from 0.4% to 6.2%, giving a pooled incidence of 3.4% [16–18]. In the literature, there are previously reported cases of CTEPH complicating KTS [19–21] or other extensive vascular malformations but to our knowledge the present study represents the most extensive series of CTEPH cases complicating KTS. In addition to the vascular malformations, splenectomy, a known risk factor for CTEPH [22] was noted in 2 patients.
Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by cutaneous capillary malformations, soft tissue and bone hypertrophy, and multiple capillary, venous or lymphatic malformations. KTS is associated with recurrent thromboembolic events. We reported herein five cases of chronic thromboembolic pulmonary hypertension (CTEPH) associated with KTS (age minimum–maximum 26–50 years old, 3 males/2 females). Hemodynamics showed severe pulmonary hypertension (PH) with pulmonary vascular resistance ranging from 5.6 to 18.3 Wood units (WU), associated with marked clinical impairment (NYHA functional class III or IV in 4 patients). Computed tomography (CT) of the chest and pulmonary angiography confirmed proximal CTEPH accessible to surgical intervention in one patient and distal forms of CTEPH in 4 patients. Evolution after pulmonary endarterectomy showed hemodynamic normalization, while the patients with distal CTEPH had severe outcomes with 2 early deaths after PH diagnosis (44 and 35 months respectively). One patient with distal CTEPH was still alive 16 years after diagnosis on specific PH therapy and one was transplanted after 15 years because of right heart failure (death after 12 months). Histological analysis of the lung explants showed typical chronic thromboembolic material specific for CTEPH. In conclusion, KTS may be complicated by severe CTEPH requiring careful anticoagulation and multidisciplinary follow-up in expert centers to screen for disease potentially accessible to endarterectomy. In the modern management era of CTEPH, balloon pulmonary angioplasty will certainly be an interesting option in patients with inoperable disease.
Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome
2018, Journal of Vascular Surgery: Venous and Lymphatic Disorders
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Low-molecular-weight heparin is the most common medical treatment in our practice, although other options for anticoagulation have also been used. Surgical treatment represented the mainstay of therapy before the development of interventional techniques and includes preventive and symptomatic phlebectomy of anomalous veins and thrombectomy in those patients presenting with acute massive and chronic PE.12-14 Interventional therapies now allow sclerotherapy of the malformation and coil embolization along with laser photocoagulation closure of ectatic anomalous veins.
Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE).
A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported.
A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE.
Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.
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Patients with this condition are prone to coagulative abnormalities, both hemorrhagic and thrombotic events, because of the extent of this combined slow-flow lesion, the abnormal venous anatomy, and the concurrent or associated lymphatic component. There are numerous reports in the literature documenting the increased incidence of coagulopathy in these patients.31–44 However, there are no prospective data on the specific mechanisms for the coagulopathy in KTS, some of which are similar to that of VMs.
Pulmonary thromboendarterectomy in Klippel-Trénaunay syndrome
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As experience with the technique has grown, many centers have seen mortality decrease to less than 5%. There are 3 previously reported cases of PTE performed for KTS, but 2 of the patients died after surgery.3-5 PTE should be performed only by surgeons who are experienced with the operation.
Venous thrombosis and pulmonary embolus in pediatric patients with large upper extremity venous malformations
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At issue in these cases, and as yet unresolved, is whether deep venous thrombosis prophylaxis is warranted, or whether treatment should be instituted only after documented deep-venous thrombosis or pulmonary emboli. It has been reported that some patients had recurrent pulmonary emboli that led to pulmonary hypertension and right ventricular failure.9 It has also been reported that most episodes of thrombosis and pulmonary embolism have been precipitated by an episode of acute pain and swelling.1–6
Patients with large venous malformations are at risk for deep venous thrombosis and pulmonary embolus. Currently, there is no general consensus on the proper treatment for these patients. We present 3 preadolescent patients with large upper extremity venous malformations, who developed deep venous thrombosis; 2 had documented pulmonary emboli, one of which was fatal. It is imperative that patients and families be educated regarding the potential life-threatening sequelae that may be associated with these large vascular malformations.

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Chest

Selected ReportsSuccessful Pulmonary Thromboendarterectomy in a Patient With Klippel-Trenaunay Syndrome

Section snippets

Case Report

Discussion

ACKNOWLEDGMENT

Mayo Clin Proc

Chest

Clin Chest Med

J Vasc Surg

J Vasc Surg

J Vasc Surg

Selected Reports
Successful Pulmonary Thromboendarterectomy in a Patient With Klippel-Trenaunay Syndrome