Balkan Journal of Medical Genetics

PULMONARY THROMBOEMBOLISM FOLLOWING RADIOFREQUENCY ABLATION OF THE ATRIOVENTRICULAR NODE IN A PATIENT HETEROZYGOUS FOR THE FACTOR V LEIDEN AND THE MTHFR C677T MUTATIONS
Pešut DP1,2*, Raljević SV2, Kontić MDj2, Božić DZ2, Buha IB2, Stević RS1,3
*Corresponding Author: Dragica P. Pešut, School of Medicine University of Belgrade; Clinical Centre of Serbia, Institute of Lung Diseases and Tuberculosis, Research and Epidemiology Department, 11000 Belgrade, Visegradska 26/20, Serbia; Tel.: +381-11-361-5561; Fax: +381-11-268-1591; E-mail: dragica. pesut@gmail.com
page: 51

DISCUSSION

Catheter ablation is a curative treatment with excellent success and minimal complication rates for patients with supraventricular or ventricular arrhythmias both in children and adults [7-9]. Results of a Canadian study, based on a total of 5,330 patients who had catheter ablation performed during a period of 14 years, confirm that radiofrequency ablation was safe and effective, supporting ablation therapy as a firstline therapy for the majority of patients with cardiac arrhythmias [10]. A French retrospective study assessed short- and long-term mortality and morbidity after radiofrequency ablation of the AV node in supraventricular arrhythmias resistant to treatment [11]. Early complications occurred in five out of 91 patients (venous thromboses, PTE, mild pericardial effusion and hemothorax). During 14.5 ± 8.6 months of followup, 11 patients died, eight of cardiac causes including three of sudden death, unrelated to pacing defects. In a Swedish study on 220 patients, there were six sudden unexplained deaths following the procedure, 14 cardiovascular deaths and 11 deaths from non cardiovascular causes [12]. Five of the patients who died suddenly from cardiovascular causes were autopsied and revealed acute myocardial infarction in four and massive pulmonary embolism in one. Our case of PTE as a major complication of the radiofrequency electro ablation of AV node in a heterozygote for FV Leiden and MTHFR C677T mutations is the first case to be reported in Serbian patients. Although the risk in most patients with a thromboembolic complication can be identified, the occurrence of complications is unpredictable. A Czech study that analyzed 400 patients following radiofrequency ablation, identified FV Leiden in one patient who had had a thrombotic episode [13]. The FV Leiden reported prevalences in the normal population and in patients with DVT vary greatly in the literature [14,15] and the risk of venous thrombosis is a 5- to 8-fold increased in heterozygotes, whereas the risk in homozygotes is increased 9- to 80-fold [2,16]. In the presented case of a heterozygote, the risk of thrombosis was enhanced by the surgical intervention and the presence of another prothrombotic mutation (MTHFR C677T). Women with FV Leiden or with >1 prothrombotic polymorphism are particularly predisposed to venous thromboembolism while using contraceptives or during the post partum period [14,17]. Factor V Leiden carriers with locally advanced or metastatic breast cancer have an increased risk of developing catheter-related DVT during chemotherapy [18]. A study indicated that FV Leiden and prothrombin II G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic single nucleotide polymorphism was associated with a significant risk of DVT [19]. Salomon et al. [17] examined three prothrombotic polymorphisms and found each of them to be an independent risk factor, with FV Leiden manifesting the greatest risk and homozygous MTHFR C677T the lowest. The odds ratio for heterozygous individuals, after exclusion of homozygotes, in that study was still high (12.6%). An enhanced risk of venous thromboembolism in heterozygotes for FV Leiden, when associated with heterozygous factor II G20210A [20,21] or homozygous MTHFR C677T [22], have also been described. However, larger cohorts of patients will have to be studied to substantiate these associations. Our patient experienced PTE at the age of 41 years. Screening for genetic risk factors is strongly recommended in young patients, in those with recurrent thromboembolism, unprovoked thrombotic or thromboembolic episodes, and in those with thrombosis in an unusual location [1]. Diagnosis of PTE usually includes clinical pretest probability assessment, testing for specific degradation products of cross-linked fibrin (D-dimer), lung scintigraphy and imaging studies. The D-dimer level in our patient was elevated and with the characteristic clinical presentation, positive findings of perfusion scintigraphy and the imaging techniques we performed was highly suggestive of PTE. Rarely, D-dimer level may be within normal limits in PTE [23]. Our report contributes to awareness of the risk of PTE after surgical treatment in patients with genetic disorders that increase thromboembolic risk. Since even a minor surgical procedure may represent a risk factor for thrombosis [13,23,24], proper prophylaxis to prevent serious major complications after interventions should be undertaken to prevent thromboembolism.

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