We have shown for the first time that the CYP11B2 polymorphism is an independent predictor for AF development in HCM patients. This highlights the importance of non-sarcomeric genes in the phenotypic heterogeneity of HCM. The association with higher aldosterone serum levels could relate to greater fibrosis and cardiac remodelling.
Background
It is estimated that 5% to 10% of patients with myocardial infarction (MI) present with no obstructive coronary artery lesions. Until now, most studies have focused on acute coronary syndrome, including different clinical entities with a similar presentation encompassed under the term MINOCA (MI with non-obstructive coronary arteries). The aim of this study is to assess the prognosis of patients diagnosed with true infarction, confirmed by cardiovascular magnetic resonance (CMR), in the absence of significant coronary lesions.
Methods
Prospective multicenter registry study, including 120 consecutive patients with a CMR-confirmed MI without obstructive coronary artery lesions. The primary clinical outcome was major adverse cardiovascular events (MACE: death, non-fatal infarction, stroke, or cardiac readmission), assessed over three years.
Results
Seventy-six patients (63.3%) were admitted with a diagnosis of acute coronary syndrome, and 44 (36.6%) for other causes (mainly heart failure); the definitive diagnosis was established by CMR. Most patients (64.2%) were men, and the mean age was 58.8 ± 13.5 years. Patients presented with small infarcts: 83 (69.1%) showed late gadolinium enhancement (LGE) in one or two myocardial segments, mainly transmural (in 77.5% of patients) and with a preserved left ventricular ejection fraction (median 54.8%, interquartile range 37–62). The most frequent infarct location was inferolateral (n = 38, 31.7%). During follow-up, 43 patients (35.8%) experienced a MACE, including 9 (7.5%) who died. In multivariable analysis, LGE in two versus one myocardial segment doubled the risk of adverse cardiac events (hazard ratio [HR] 2.32, 95% confidence interval [CI] 0.97–5.83, p = 0.058). Involvement of three or more myocardial segments almost tripled the risk (HR 2.71, 95% CI 1.04–7.04, p = 0.040 respectively).
Conclusions
Patients with true MI but without significant coronary artery lesions predominantly had small infarcts. Myocardial 3-segment LGE involvement is associated with a significantly higher risk of adverse cardiac events.
Aims
Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy and fibrosis. HCM is an autosomal‐dominant disease caused by more than 400 mutations in sarcomeric genes. Changes in nonsarcomeric genes contribute to its phenotypic heterogeneity. Cardiac fibrosis can be studied using late gadolinium enhancement (LGE) cardiac magnetic resonance imaging. We evaluated the potential role of two polymorphisms in nonsarcomeric genes on interstitial fibrosis in HCM.
Materials and methods
Two polymorphisms in nonsarcomeric genes [ACE (deletion of 287 bp in the 16th intron) and RETN (−420C>G)] were analysed in 146 HCM patients. Cardiac fibrosis was assessed using LGE to determine the number of affected segments.
Results
Allelic frequencies in ACE and RETN polymorphisms were consistent with the Hardy–Weinberg equilibrium (both P > 0.05). We found that the presence of the polymorphic allele in the −420C>G RETN polymorphism was independently associated with the number of affected segments of LGE (P = 0.038). Increased circulating resistin concentration, measured by enzyme‐linked immunosorbent assay, was associated with a higher degree of cardiac fibrosis. Myocardial fibrosis, assessed by Masson's trichrome staining, was associated with the −420C>G RETN polymorphism in 46 tissue samples obtained by septal myectomy (P = 0.044).
Conclusions
The −420C>G RETN polymorphism was independently associated with the degree of cardiac fibrosis, assessed by LGE, in patients with HCM. In addition, there was an association between the polymorphism and the circulating resistin levels as well as with myocardial fibrosis in tissues obtained by myectomy. Investigating the physiological implication of the RETN polymorphism in HCM in combination with the use of imaging technologies might help to establish the severity of disease in patients with HCM.
en una localización atípica, específicamente en tejidos blandos circundantes a las articulaciones sin dependencia de los huesos del esqueleto. Ocurre sobre todo en la articulación de la cadera y en pacientes con estancia hospitalaria prolongada, daño neurológico central o periférico grave, quemaduras extensas, traumatismos osteomusculares graves o cirugías de reemplazo articular. Se presenta el caso de un paciente con infección grave por SARS-CoV-2 y osificaciones heterotópicas masivas en ambas articulaciones coxofemorales que condicionaban compresión de ambos nervios ciáticos y bloqueo articular.
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