Arterial thrombosis and acute myocardial infarction with angiographically normal coronary arteries in a woman heterozygous for both factor V Leiden and prothrombin mutation

Thirteen years after her last thrombotic event, anticoagulation was discontinued in a patient with combined thrombophilia involving mutation in factor V and G20210A polymorphism of the prothrombin gene. The only history was of arterial thrombosis. Three months later she presented a transmural myocardial infarction caused by coronary thrombosis.     

APC resistance due to factor V Leiden mutation presenting as acute hemorrhagic jejunal infarction--case report

We report on a 43-year-old patient presenting to the emergency department with acute abdominal pain the source of which turned out to be acute hemorrhagic jejunal infarction due to portal and mesenteric vein occlusion with no apparent cause. In spite of a lacking history of hereditary thrombophilic risk factors, further diagnostic procedures revealed heterozygous factor V Leiden mutation. Diagnosis, therapy and clinical course are described. An overview on acute mesenteric venous occlusion with special reference to genetically determined thrombophilic disorders is given.     

Normal coronary arteries are rare in young patients with acute myocardial infarction.

OBJECTIVE: To delineate the angiographic extent of coronary atherosclerosis in young patients (<45 years) with acute myocardial infarction (MI). BACKGROUND: Prior studies suggest 20% of young patients with acute MI have normal coronary arteries. However, most such studies defined "normal" as absence of stenoses >50% luminal diameter, ignoring the presence of nonflow limiting disease that may harbor culprit plaques. METHODS: We retrospectively analyzed 131 patients <45 years old with ST-segment elevation MI undergoing emergency catheterization. Angiograms were analyzed for the presence and extent of disease, including lesion "complexity" indicative of plaque instability. "Normal" vessels were defined as absence of any disease. RESULTS: Mean patient age was 40 +/- 7 years. The infarct related artery and an obvious complex culprit lesion was identified in all (100%) cases (left anterior descending 44%, right coronary 38%, and circumflex 18%). Single vessel disease involving the culprit vessel only was identified in 60% of cases, whereas additional disease was found in 40% of others (two-vessel in 29% and three-vessel disease in 11% of patients). CONCLUSION: These findings demonstrate that young patients with acute MI typically manifest an identifiable complex culprit atherosclerotic coronary lesion. Furthermore, they often have multivessel atherosclerosis.     

The factor V Leiden mutation is not a common cause of pregnancy-induced hypertension in Japan

Recent studies in Caucasian populations have shown an association of the Leiden mutation in factor V with preeclampsia (PE). It consists of a substitution of a G (G1691) with an A (A1691) at nucleotide position 1691 in exon 10, resulting in arginine instead of glutamine at residue 506 at the factor V cleavage site for activated protein C (APC); it contributes to the resistance to APC. The purpose of this study was to determine whether the Leiden mutation is associated with pregnancy-induced hypertension (PIH), including PE, in Japanese women. We examined the genotypes of factor V of 71 Japanese patients with PIH and 109 controls. None of the 180 Japanese women carried the factor V Leiden mutation. To date, the factor V Leiden mutation is rare and not a common cause of PIH in Japan. The results may suggest that there is a significant ethnic difference in the role of the Leiden mutation in compounding the risk factors in the pathogenesis of PIH between Japanese and Caucasian populations.     

Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes

BackgroundThe prevalence of Coronary artery disease (CAD) in India has increased considerably over the past few years and could become the number one killer disease if interventions are not done. Factor V Leiden (FVL) mutation and FII G20210A polymorphism are two recently described genetic factors with a propensity towards venous thrombosis. This warrants the investigations for thrombophilia in myocardial infarction patients in India.MethodsThe study cohort consisted of 51 patients aged below 50 years presenting with acute coronary syndromes. In both patient group and normal individuals the major risk factors Protein C deficiency, Protein S deficiency, anticardiolipin antibodies, Fibrinogen and Lipoprotein [a] were studied. Factor V Leiden (FVL) G1691A mutation in both control and patient group was looked by using Polymerase chain reaction (PCR) followed by sequencing of the PCR products.ResultsOur results indicated significantly higher levels of anticardiolipin antibodies and fibrinogen in the patients and absence of FVL (G1691A) mutation in our study cohort. One of the patients (H5) showed insertion of an extra A nucleotide in exon 10 of the Factor V gene resulting in frame shift mutation in this patient.ConclusionThe results of present study showed absence of FVL mutation in our population. However, there is a need to confirm the above findings on patients from different populations from different parts of the country. The insertion of an extra A in exon 10 in the patient needs to be ascertained to confirm that it is one of its kinds or is prevalent in the population.     

Possible paradoxical embolism as a rare cause for an acute myocardial infarction

Paradoxical embolus is a rare entity and it has been incriminated as a cause of both cryptogenic strokes and myocardial infarctions (MI). Herein, we present a case of a patient diagnosed with a pulmonary embolism 1 week prior who now presented with an acute MI. Subsequent evaluation revealed a patent foramen ovale and a large thrombus in the right pulmonary artery. It was presumed that the etiology of her infarct was due to paradoxical embolus. The management of the patient is discussed and the literature is reviewed.     

A rare noncardiac cause for acute myocardial infarction in a 13-year-old patient

A case of ST-segment elevation myocardial infarction in an adolescent patient is presented. The patient presented with resting angina and echocardiographic evidence of wall motion abnormalities in the inferior and posterior segments. The patient was known to have metastatic hepatocellular carcinoma. Tumor was seen in the left inferior pulmonary vein and is proposed to be the source of embolism-causing myocardial infarction. Secondary to intracranial metastatic lesions, the patient was treated conservatively with opiates, nitrates, and beta-blockers. This case is an opportunity to review the causes and management of myocardial infraction in pediatric patients and represents a rare cause of embolic myocardial infraction.     

Takotsubo cardiomiopathy. A rare cause of cardiogenic shock simulating acute myocardial infarction

Takotsubo Cardiomiopathy is a rare cause of acute left ventricular aneurysm, in the absence of coronariopathy, only recently described in world literature. Symptoms may be similar to those from acute myocardial infarction with typical thoracic pain. The image of dumbbell or Takotsubo (a device used in Japan to capture octopus) suggestive ventricular ballooning is characteristic of that new syndrome and there is usually the disappearing of dyskinetic movement up to the 18th day from the beginning of the symptoms, in average.     

Prevalence of factor V Leiden (APCR) and other inherited thrombophilias in young patients with myocardial infarction and normal coronary arteries

Objective—To investigate the role of activated protein C resistance (APCR, factor V Leiden) in coronary artery thrombosis.
Methods—The prevalence of APCR and of congenital deficiencies of antithrombin III, protein C, protein S, plasminogen, and factor XII was investigated in adult patients under 45 years of age with acute myocardial infarction. The results were compared with those of a group of 53 age and sex matched control subjects.
Results—Among 75 patients under the age of 45 years who were admitted from November 1994 to April 1996 for acute myocardial infarction, 22 (29.3%) had normal coronary arteriography (group I) and 53 (70.7%) had significant coronary artery disease (group II). Inherited thrombophilia was more often found in group I (4/22, 18.2%) than in group II (4/53, 7.5%) but the difference was not significant (F test: p = 0.22). The prevalence of APCR was 9.1% (2/22) in group I, 3.8% (2/53) in group 2 (p = 0.57), and 3.8% (2/53) in the normal control group (p = 0.57).
Conclusions—The prevalence of congenital thrombophilias, including APCR, does not seem to be increased in young patients with myocardial infarction and normal coronary angiograms, compared with young patients with coronary atherosclerosis and with normal control subjects. However, the statistical power of the study is too low to detect a significant difference and these results are published to allow a meta-analysis of this problem in the future.

Keywords: myocardial infarction; factor V Leiden; coagulation factors; inherited thrombophilia     

The factor V Leiden mutation in children with cancer and thrombosis

Thromboembolic phenomena, frequently observed in children with cancer who are undergoing chemotherapy, can cause significant morbidity and, less frequently, mortality. Many contributory factors have been identified. Whether the recently identified and most common coagulation defect predisposing to thrombosis, factor V Leiden, is associated with thrombosis in this setting, has not been explored. The current study was undertaken to determine the prevalence of the factor V Leiden mutation in children with cancer who developed thromboembolic phenomena as compared to those with cancer who did not. Genomic DNA was amplified using the polymerase chain reaction (PCR), followed by digestion of the amplification product with the restriction enzyme Mnl I. The digested PCR products were then size-fractionated to classify samples as heterozygous, homozygous or normal for the factor V Leiden mutation. 67 children with cancer were evaluated for the factor V Leiden mutation. One of 32 children with cancer and thrombosis, and none of 35 who had not experienced thrombotic problems, was found heterozygous for this mutation. We conclude that the factor V Leiden mutation does not play a significant role in the overall incidence of thromboses that occur in children with cancer.     

Spontaneous thrombosis in mice carrying the factor V Leiden mutation

A polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime. In a small subset of patients, thrombosis is associated with coinheritance of other prothrombotic gene mutations. However, the potential contribution of additional genetic risk factors in the majority of patients remains unknown. To gain insight into the molecular basis for the variable expressivity of FVL, mice were generated carrying the homologous mutation (R504Q [single-letter amino acid codes]) inserted into the endogenous murine Fv gene. Adult heterozygous (FvQ/+) and homozygous (FvQ/Q) mice are viable and fertile and exhibit normal survival. Compared with wild-type mice, adult FvQ/Q mice demonstrate a marked increase in spontaneous tissue fibrin deposition. No differences in fetal development or survival are observed among FvQ/Q, FvQ/+ or control littermates on the C57BL/6J genetic background. In contrast, on a mixed 129Sv-C57BL/6J genetic background, FvQ/Q mice develop disseminated intravascular thrombosis in the perinatal period, resulting in significant mortality shortly after birth. These results may explain the high degree of conservation of the R504/R506 activated protein C cleavage site within FV among mammalian species and suggest an important contribution of other genetic factors to the thrombosis associated with FVL in humans. (Blood. 2000;96:4222-4226)