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Resumo Fundamento O acidente vascular encefálico isquêmico (AVEi) e a doença arterial coronariana (DAC) coexistem frequentemente e compartilham fatores de risco para doença aterosclerótica. Segundo a American Heart Association , os subtipos de AVEi podem ser considerados equivalentes de risco para DAC, mas a evidência para o AVEi não-aterosclerótico não está bem definida. Além disso, o escore de cálcio coronário (CAC) é um marcador preciso para estimar o risco de DAC. Entretanto, a distribuição do CAC pelos subtipos de AVEi ainda não foi bem caracterizada. Objetivos Comparar o CAC entre os grupos de AVEi ateroscleróticos e não ateroscleróticos, e determinar quais covariáveis estão associadas a CAC alto no AVEi Métodos Em um estudo transversal, incluímos todos os pacientes com AVEi, com idades entre 45 a 70 anos no momento do acidente vascular, consecutivamente admitidos em um hospital de reabilitação entre agosto de 2014 e dezembro de 2016, sem DAC prevalente. Todos os pacientes passaram por tomografia computadorizada (TC), para medir o CAC. CAC≥100 foi considerado alto risco de DAC. O nível de significância foi p<0,05. Resultados Dos 244 pacientes estudados (média de idade de 58,4±6,8 anos; 49% do sexo feminino), 164 (67%) apresentavam etiologia não-aterosclerótica. As proporções de CAC≥100 foram semelhantes entre os grupos ateroscleróticos e não-ateroscleróticos (33% [n=26] x 29% [n=47]; p= 0,54). Entre todos os pacientes com AVEi, apenas os de idade ≥60 anos foram associados independentemente a CAC≥100 (RC 3,5; 95% IC 1,7-7,1), ajustado para hipertensão, dislipidemia, diabetes, sedentarismo, e histórico familiar de DAC. Conclusão O AVEi aterosclerótico não apresentou risco maior de DAC quando comparado ao AVEi não-aterosclerótico de acordo com o CAC. Apenas a faixa etária ≥60 anos – mas não a etiologia - foi associada independentemente a CAC≥100. (Arq Bras Cardiol. 2020; 115(6):1144-1151)

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic cause of ischemic stroke and the most common form of non-atherosclerotic stroke. Despite being the most prevalent vascular hereditary disease, clinical data regarding the Brazilian population are scarce. Considering that the Brazilian population has one of the most heterogeneous genetic constitutions in the world, knowledge about genetic and epidemiological profiles is mandatory. The present study aimed to elucidate the epidemiological and clinical features of CADASIL in Brazil. Methods We performed a case series study comprising 6 rehabilitation hospitals in Brazil and reported the clinical and epidemiological data from the medical records of patients admitted from 2002 to 2019 with genetic confirmation. Results We enrolled 26 (16 female) patients in whom mutations in exons 4 and 19 were the most common. The mean age at the onset of the disease was of 45 years. Ischemic stroke was the first cardinal symptom in 19 patients. Cognitive impairment, dementia, and psychiatric manifestations were detected in 17, 6, and 16 patients respectively. In total, 8 patients had recurrent migraines, with aura in 6 (75%) of them. White matter hyperintensities in the temporal lobe and the external capsule were found in 20 (91%) and 15 patients (68%) respectively. The median Fazekas score was of 2. Lacunar infarcts, microbleeds, and larger hemorrhages were observed in 18 (82%), 9, and 2 patients respectively. Conclusion The present is the most extensive series of Brazilian CADASIL patients published to date, and we have reported the first case of microbleeds in the spinal cord of a CADASIL patient. Most of our clinical and epidemiological data are in accordance with European cohorts, except for microbleeds and hemorrhagic strokes, for which rates fall in between those of European and Asian cohorts.

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.