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Echocardiography ; 34(5): 676-682, 2017 May.
Article in English | MEDLINE | ID: mdl-28317214

ABSTRACT

OBJECTIVES: We determined whether stroke and/or TIA subjects have exercise-induced blood flow through intrapulmonary arteriovenous anastomoses (QIPAVA ) and/or patent foramen ovale (QPFO ) and a genetic predisposition for ischemic stroke. METHODS: Twenty-eight stroke and/or TIA subjects (33-63 years old) underwent transthoracic saline contrast echocardiography concomitant with transcranial Doppler to detect QIPAVA and QPFO at rest and during supine exercise with and without breathing 100% O2 . We also examined genetic polymorphisms in FV Leiden (G1691A; rs6025), factor II (FII) prothrombin (G20210A; rs1799963), methylene tetrahydfropholate reductase (C677T, rs1801133), and plasminogen-activator inhibitor-1 (PAI-1) (4G/5G; rs1799889) and angiotensin-converting enzyme (ACE; I/D, rs4646994) in 24/28 subjects. RESULTS: No subject without PFO had QIPAVA at rest (n=17), but 12/17 did with exercise. All PFO subjects had QPFO at rest (n=11) and 7/11 had either QIPAVA or QPFO with exercise. Breathing 100% O2 during exercise reduced or eliminated left heart contrast in all subjects. Gene analyses revealed that 15/24 patients were either heterozygous or homozygous for methylenetetrahydrofolate reductase gene polymorphism; 4G/4G and 4G/5G genotypes of plasminogen-activator inhibitor-1 were present in 7/24 and 13/24 patients, respectively; polymorphisms of ACE D/D genotype were present in 6/24 and I/D in 14/24 patients. Having both I/D and 4G/4G genotypes was more prevalent in PFO+ subjects (P=.03), and there was a trend (P=.06) for PFO- subjects to have a greater D/D genotype prevalence. CONCLUSIONS: Novel genetic predispositions reported here in PFO subjects should be investigated further in larger stroke and/or TIA patient datasets.


Subject(s)
Arteriovenous Fistula/physiopathology , Echocardiography, Stress/methods , Foramen Ovale, Patent/diagnostic imaging , Foramen Ovale, Patent/physiopathology , Genetic Predisposition to Disease/genetics , Ischemic Attack, Transient/physiopathology , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Stroke/physiopathology , Adult , Arteriovenous Fistula/diagnostic imaging , Blood Flow Velocity , Female , Genetic Markers/genetics , Humans , Ischemic Attack, Transient/diagnostic imaging , Male , Middle Aged , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/physiopathology , Pulmonary Circulation , Pulmonary Veins/diagnostic imaging , Pulmonary Veins/physiopathology , Stroke/diagnostic imaging
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