Influence of Cardiac CT based disease severity and clinical symptoms on the diagnostic performance of myocardial perfusion

Danish Heart Foundation (Grant No. 15-R99-A5837-22920)Health Research Fund of Central Denmark RegionNational Institute for Health Research Biomedical Research Centre at Barts

Influence of Cardiac CT based disease severity and clinical symptoms on the diagnostic performance of myocardial perfusion

Danish Heart Foundation (Grant No. 15-R99-A5837-22920)Health Research Fund of Central Denmark RegionNational Institute for Health Research Biomedical Research Centre at Barts

Different outcome of six homozygotes for prothrombin A20210A gene variant

Prothrombin G20210A gene variant (FII G20210A) is a risk factor for venous thrombotic disease while conflicting results have been reported for the risk of arterial thrombotic events. However, vascular episodes were absent in up to 40% of the 67 homozygotes for the G20210A described so far, which indicates that the clinical expression depends on additional risk/trigger factors. We describe six homozygotes for the G20210A variant, among which the first pair of siblings (cases n. 3 and 4) reported so far that displayed a strongly heterogeneous clinical outcome. Case 1, a female of 27 years, developed a full thrombosis of common femoral, superficial and popliteal veins. She assumed oral contraceptives in the last two years. Case n. 2, 34 years old, suffered of recurrent pregnancy loss in absence of any causative alteration. Cases n. 3 and n. 5 experienced arterial thrombotic disease, i.e., juvenile myocardial infarction (40 years old) and stroke (48 years old), respectively, in absence of other risk factors. Finally, cases n. 4 and 6 identified as homozygotes for the FII G20210A variant being consanguineous of symptomatic subjects bearing the variant, did not experience any episode of venous nor arterial disease. Both of them have chronic liver disease with an impairement of the prothrombin time INR. Thus, homozygotes for the G20210A are at risk for arterial (in addition to venous) thromobotic events; chronic liver disease might modulate this risk

Diagnostic performance of clinical likelihood models of obstructive coronary artery disease to predict myocardial perfusion defects.

AIMS: Clinical likelihood (CL) models are designed based on a reference of coronary stenosis in patients with suspected obstructive coronary artery disease (CAD). However, a reference standard of a myocardial perfusion defects (MPD) could be more appropriate.We aimed to investigate the ability of the 2019 European Society of Cardiology pre-test probability (ESC-PTP), the risk factor-weighted (RF-CL) and coronary artery calcium score-weighted (CACS-CL) models to diagnose MPDs. METHODS AND RESULTS: Symptomatic stable de novo chest pain patients (n = 3374) underwent coronary computed tomography angiography (CTA) and subsequent myocardial perfusion imaging by single photon emission tomography (SPECT), positron emission tomography (PET) or cardiac magnetic resonance (CMR). For all modalities, MPD was defined as coronary CTA with suspected stenosis and stress-perfusion abnormality in ≥2 segments. The ESC-PTP was calculated based on age, sex and symptom typicality, and the RF-CL and CACS-CL additionally included a number of risk factors and CACS.In total, 219/3374 (6.5%) patients had a MPD. Both the RF-CL and CACS-CL classified substantially more patients to low CL (<5%) of obstructive CAD compared to the ESC-PTP (32.5% and 54.1% vs. 12.0%, p < 0.001) with preserved low prevalences of MPD (<2% for all models). Compared to the ESC-PTP (AUC 0.74 (0.71-0.78), the discrimination of having a MPD was higher for the CACS-CL (AUC 0.88 (0.86-0.91), p < 0.001) while similar for the RF-CL model (AUC 0.73 (0.70-0.76), p = 0.32). CONCLUSIONS: Compared to basic CL models, the RF-CL and CACS-CL models improve down-classification of patients to a very low-risk group with low prevalence of MPD