[Patent foramen ovale: "les liaisons dangereuses" between anatomy and genetics].
We reported a case of two 24-year-old and 17-year-old male patients with episode of transient ischemic attacks and diagnosed as having patent foramen ovale (PFO). One patient had heterozygosity for the factor V Leiden mutation, and one other had heterozygosity for prothrombin G20210A mutation. Both of them were also carriers for MTHFR 677T genotype with elevated plasma levels of homocysteine (22.3 +/- 3.9 micromol/L). These findings strongly confirm and emphasize the importance of the genetic screening for thrombotic mutations in young patients with PFO-related ischemic events in order to improve secondary prevention strategies.
Botto
Nicoletta
N
Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa. botto@ifc.cnr.it
Ait-Ali
Lamia
L
Sicari
Rosa
R
Spadoni
Isabella
I
Andreassi
Maria Grazia
MG
D000293:Adolescent; D000328:Adult; D005165:Factor V / Q000235:genetics*; D054092:Foramen Ovale, Patent / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D002546:Ischemic Attack, Transient / Q000235:genetics; D008297:Male; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors
D005819:Genetic Markers; C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D011516:Prothrombin