Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, management recommendations, and recent advances in treatment of this increasingly recognized and extremely morbid cardiomyopathy.

Introduction: Identification of chemicals present in e-liquids and aerosols is a vital first step in assessing the human health effects of e-cigarettes. We aim to identify the qualitative and quantitative constituents present in e-cigarette liquids and aerosols. Methods: A comprehensive...

HIV prevention and control methods are implemented on different scales to reduce the spread of the virus amongst populations. However, despite such efforts, HIV continues to persist in populations with a global incidence rate of 1.8 million in 2017 alone. The introduction of new infections into susceptible regional populations promotes the spread of HIV, indicating a crucial need to study the impact of migration and mobility on regional and global efforts to prevent HIV transmission. Here we reviewed studies that assess the impact of human mobility on HIV transmission and spread. We found an important role for both travel and migration in driving the spread of HIV across regional and national borders. Combined, our results indicate that even in the presence of control and preventive efforts, if migration and travel are occurring, public health efforts will need to remain persistent to ensure that new infections do not grow into outbreaks.

Most risk prediction models are confined to specific medical conditions, thus limiting their application to general medical populations. The MARKER-HF (Machine learning Assessment of RisK and EaRly mortality in Heart Failure) risk model was developed in heart failure (HF) patients. We assessed the ability of MARKER-HF to predict 1-year mortality in a large community-based hospital registry database including patients with and without HF. This study included 41,749 consecutive patients who underwent echocardiography in a tertiary referral hospital (4,640 patients with and 37,109 without HF). Patients without HF were further subdivided into those with (n = 22,946) and without cardiovascular disease (n = 14,163) and also into cohorts based on recent acute coronary syndrome or history of atrial fibrillation, chronic obstructive pulmonary disease, chronic kidney disease, diabetes mellitus, hypertension, or malignancy. The median age of the 41,749 patients was 65 years, and 56.2% were male. The receiver operated area under the curves for MARKER-HF prediction of 1-year mortality of patients with HF was 0.729 (95% CI: 0.706-0.752) and for patients without HF was 0.770 (95% CI: 0.760-0.780). MARKER-HF prediction of mortality was consistent across subgroups with and without cardiovascular disease and in patients diagnosed with acute coronary syndrome, atrial fibrillation, chronic obstructive pulmonary disease, chronic kidney disease, diabetes mellitus, or hypertension. Patients with malignancy demonstrated higher mortality at a given MARKER-HF score than did patients in the other groups. MARKER-HF predicts mortality for patients with HF as well as for patients suffering from a variety of diseases.

Background: Danon disease is a rare X‐linked dominant cardioskeletal myopathy caused by mutations in the lysosome‐associated membrane protein‐2 gene. Though the severe morbidity of disease in men is well established, longitudinal studies describing the trajectory of cardiovascular disease in both sexes are lacking. Methods and Results: Data were from the International Danon Disease Registry and includes retrospective data on 116 patients who provided informed consent between 2005 and 2022. The analysis included 116 patients with Danon disease with a median age of diagnosis of 15.2 years (10.0–25.2 years). Trends in echocardiographic parameters over time indicate decreased left ventricular ejection fraction and increased left ventricular end diastolic dimension regardless of sex and heart failure (HF) outcome; however, rate of change was increased in patients who experienced a HF outcome in both sexes. Left ventricular wall hypertrophy continues in men who have not yet experienced a HF outcome and stabilizes before HF outcome, while females have progressive left ventricular thinning regardless of HF outcome. Stratified analysis demonstrated 2 distinct groups of females: one who experienced HF outcome before 26 years of age and another group with this HF outcome after. Conclusions: In this largest longitudinal natural history study of Danon disease to date, we confirmed that males present on average a decade earlier and demonstrate more progressive cardiac hypertrophy and HF than females. Notably, there may be a subset of females who are phenotypically similar to males with profound left ventricular hypertrophy that appears to stabilize or regress before HF outcome. Correlations between structural cardiac dysfunction and disease progression may permit risk stratification, refinement of treatment algorithms, and inform therapeutic trial design. Registration: URL: https://clinicaltrials.gov/ ; Unique Identifier: NCT03766386.