ABSTRACT
We report the case of a 66 year-old woman with chronic atrial fibrillation, hypertrophic cardiomyopathy (HCM), and spinocerebellar atrophy (SCA). Her mother and first-born son had died of heart disease at the ages of 65 and 16 years, respectively. Four of her 8 siblings had died suddenly of unknown cause or of heart disease, and 2 others of cerebral infarction by the 7th decade. Genetic testing revealed that she had a novel mutation (c. 482C > A, p. Ala161Asp) in the troponin I gene (TNNI3), and no abnormality of the GAA repeat in the frataxin gene. Her older brother with SCA but without HCM was also analyzed, with no abnormality noted in either gene. The Ala161Asp mutation in TNNI3 was implicated in the pathogenesis of her HCM, though an association between HCM and SCA was not revealed.
Subject(s)
Atrial Fibrillation/genetics , Cardiomyopathy, Hypertrophic/genetics , Mutation , Spinocerebellar Ataxias/genetics , Troponin I/genetics , Aged , Atrial Fibrillation/complications , Cardiomyopathy, Hypertrophic/complications , Female , Humans , Pedigree , Spinocerebellar Ataxias/complicationsABSTRACT
BACKGROUND AND AIMS: Coronary computed tomography angiography (CCTA)-verified high risk plaque (HRP) characteristics including positive remodeling and low attenuation plaque have been associated with acute coronary syndromes. Several studies reported that the n-3 polyunsaturated fatty acids have been associated with cardiovascular events. However, the relationship between serum eicosapentaenoic acid to arachidonic acid (EPA/AA) ratio and CCTA-verified HRP in patients without known coronary artery disease (CAD) is unclear. We aimed at investigating the relation between EPA/AA and CCTA-verified HRP in patients without known CAD. METHODS: We included 193 patients undergoing CCTA without known CAD (65.5 ± 12.0 years, 55.0% male). No patient has been treated with EPA. The relation of coronary risk factors, lipid profile, high-sensitivity C-reactive protein, coronary artery calcification score (CACS), number of vessel disease, plaque burden, and EPA/AA with the presence of HRP was evaluated by logistic regression analysis. Incremental value of EPA/AA to predict HRP was also analyzed by C-index, NRI, and IDI. A Cox proportional hazards model was used to estimate the time to cardiovascular event. RESULTS: HRP was observed in 37 (19%) patients. Multivariable logistic regression analysis revealed that current smoking (OR 2.58; p=0.046), number of vessel disease (OR 1.87; p=0.031), and EPA/AA ratio (OR 0.65; p=0.0006) were independent associated factors of HRP on CCTA. Although the addition of EPA/AA to the baseline model did not significantly improve C-index, both NRI (0.60, p=0.0049) and IDI (0.054, p=0.0072) were significantly improved. Patients with HRP had significantly higher rate of events compared with patients without HRP (14% vs. 3%, Logrank p=0.0004). On multivariable Cox hazard analysis, baseline EPA/AA ratio was an independent predictor (HR 0.57, p=0.047). CONCLUSIONS: Low EPA/AA was an associated factor of HRP on CCTA in patients without CAD. In addition to conventional coronary risk factors and CACS, EPA/AA and CCTA might be useful for risk stratification of CAD.
Subject(s)
Arachidonic Acid/blood , Coronary Artery Disease/blood , Eicosapentaenoic Acid/blood , Plaque, Atherosclerotic/blood , Acute Coronary Syndrome/blood , Aged , C-Reactive Protein/metabolism , Fatty Acids, Omega-3/blood , Female , Humans , Male , Middle Aged , Multivariate Analysis , Proportional Hazards Models , Retrospective Studies , Risk Factors , Tomography, X-Ray ComputedABSTRACT
Two patients after Kawasaki disease (KD) developed acute myocardial infarction in their thirties, though coronary artery follow-up were deemed unnecessary because of apparently angiographic normal coronary arteries in their children more than 1-year after acute KD. Angiographic findings of apparently normal coronary arteries in the late period after acute KD are possible to mislead their prognoses. It should be recognized that coronary aneurysms can often regress in the late period. There is ongoing controversy about the therapeutic strategy in patients whose coronary aneurysms regressed within several years after acute KD. Coronary computed tomography angiography and flow-mediated dilatation might be useful for the detection of mild sequelae of KD non-invasively.
