Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation.

نویسندگان

  • Nicola D'Amato
  • Michele Correale
  • Carlo D'Agostino
چکیده

thrombus (10×18 mm) of aortic isthmus, which led to the diagnosis of acute pulmonary embolism and aortic thrombus. The same gene mutation (C677-T MTHFR) was detected by polymerase chain reaction. Transesophageal echocardiogram after 40 days of warfarin therapy documented the disappearance of aortic thrombus (Figure 2). Recent studies showed that C677T gene polimophism is associated with an increased risk of arterial disease and a major risk of pulmonary embolism.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Chronic thromboembolic pulmonary hypertension

1. Schölzel BE, Snijder RJ, Mager JJ, et al. Chronic thromboembolic pulmonary hypertension. Neth Heart J. 2014;22:533–41. 2. Correale M, Montrone D, Lacedonia D, et al. Multiprofessional and intrahospital experience for diagnosis and treatment of pulmonary arterial hypertension. Monaldi Arch Chest Dis. 2012;78:205–9. 3. D’Amato N, Correale M, D’Agostino C. Aortic thrombus and acute pulmonary em...

متن کامل

Factor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis

Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...

متن کامل

Mobile right heart thrombus as a manifestation of homozygous mutation of MTHFR 1298 A>C.

Mobile right heart thrombus (MRHT) is uncommon pathology but the true prevalence is still unknown. Previous studies reported that MRHT occurs in 7% to 18% of patients with pulmonary embolism with high mortality rate (44.7%) (1). The main manifestations of venous thromboembolism (VTE) are deep venous thrombosis (DVT) and pulmonary embolism. In addition, genetic factors play an important role in ...

متن کامل

Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran

Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...

متن کامل

Recurrent Thrombosis: A Case of Hereditary Thromboembolism

BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Revista espanola de cardiologia

دوره 63 11  شماره 

صفحات  -

تاریخ انتشار 2010