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Cardiomyopathy is a manifestation of mitochondrial cytopathies, but rarely constitutes the dominant feature, especially in adults. We report the case of a 59-year-old male with a personal and maternal history of diabetes and deafness, who presented with cardiomyopathy and kidney disease. We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNA^Leu(UUR) gene in the mitochondrial DNA. The family history, broad spectrum of clinical manifestations and fluctuant clinical course provided clues to the diagnosis. We discuss the possible mechanisms underlying the phenotypic variability and fluctuant clinical course of mitochondrial disorders and the potential usefulness of coenzyme Q10 and L-carnitine in 3243A>G mutation patients.

Objectives We aimed to characterize neurocognitive impairment (NI) in an HIV‐2 population using an observational cross‐sectional study in four Portuguese hospitals. Methods Adult HIV‐2‐infected patients were included. Montreal Cognitive Assessment Test (MoCA) and International HIV Dementia Scale (IHDS) scales were applied for screening of NI. Patient Health Questionnaire‐9 (PHQ‐9) and Instrumental Activities of Daily Living (IADL) scales were used for assessment of depression and functionality. A multivariate analysis was performed to assess for risk factors for NI. Results Eighty‐one patients were included, 50.6% of African origin (n = 41) and 49.4% of Portuguese origin (n = 40). The MoCA scale showed alterations in 81.5% of patients (100% of migrants vs. 62.5% of non‐migrants, P < 0.001) and the IHDS scale showed alterations in 42%. Both scales were altered simultaneously in 35.8%. Variables independently associated with NI were age [odds ratio (OR) = 0.885] and migrant status (OR = 9.150). Conclusions Neurocognitive impairment (both scales altered) was present in 35.8%, which is comparable to what is described for HIV‐1. The MoCA performed worse in the migrant population and might not be applicable in this setting.

Aims Heart failure (HF) is a complex clinical syndrome with multiple comorbidities. Cognitive impairment, stress, anxiety, depression, and lower quality of life are prevalent in HF. Herein, we explore the interplay between these parameters and study their value to predict major adverse cardiovascular events (MACEs) and health-related quality of life (HrQoL) in patients with HF with reduced ejection fraction using guideline recommended assessment tools. Methods and results We conducted a longitudinal study using a sample of 65 patients from two hospitals. A battery of tests was applied to assess cognition [Montreal Cognitive Assessment (MoCA)], stress (Perceived Stress Scale-10), anxiety, and depression (Hospital Anxiety and Depression Scale) at baseline. MACEs were registered using clinical records. HrQoL was estimated using the Kansas City Cardiomyopathy Questionnaire (KCCQ). A descriptive statistical analysis was conducted, and multiple linear and Cox regression models conducted to determine the predictive value of neurocognitive parameters and HrQoL in MACE. Both MoCA [hazard ratio = 0.906 (0.829-0.990); P = 0.029] and KCCQ scores were predictors of MACE, but not of overall mortality. Anxiety, depression, and stress scores did not predict MACE. However, anxiety (β = À0.326; P = 0.012) and depression levels (β = À0.309; P = 0.014) were independent predictors of the KCCQ score. Conclusions The MoCA score and HrQoL were predictors of MACE-free survival. Anxiety and depression were good predictors of HrQoL, but not of MACE-free survival.

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