Genetic cardiomyopathy-associated myocarditis

Genetic cardiomyopathy-associated myocarditis. Cardiovascular disease is the leading cause of death worldwide, with the majority of disease cases occurring in older adults. Myocarditis disproportionately affects young individuals.

Although most patients with myocarditis show no impairment in cardiac function or have a rapid recovery (often within the first week after symptom onset), a subset of patients experience severe outcomes, including sudden cardiac death or progression to dilated cardiomyopathy. Traditionally, myocarditis has been viewed as an immune-mediated disease that arises in response to infectious (particularly viral), autoimmune or toxin-related triggers, including immune-checkpoint inhibitors, and, more rarely, vaccination. A paradigm shift in our understanding of this disease has been the recognition of an inherited substrate that can influence both the susceptibility to myocarditis and its subsequent clinical course, which was the result of advances in genetic sequencing and the growing body of evidence for the involvement of pathogenic or likely pathogenic (P/LP) variants in cardiomyopathies.

The recognition that myocarditis might represent the first clinical manifestation of an inherited cardiomyopathy has fundamentally changed the diagnostic approach in patients presenting with acute myocardial inflammation, which highlights the potential clinical relevance of genetic testing for risk stratification, genetic counselling and cascade screening of relatives. These observations helped to establish the concept that myocarditis can act as a ‘second hit’, unmasking an otherwise subclinical cardiomyopathic substrate in genetically susceptible individuals, alongside other environmental stressors, disease modifiers or pregnancy. This concept is further supported by the observed discrepancy between the high prevalence of common infections and the comparatively rare occurrence of clinically overt myocarditis, as well as by the marked heterogeneity in myocarditis severity, which ranges from self-limiting myocardial injury to fulminant heart failure, cardiac transplantation or sudden cardiac death.

More than 1,200 genetic variants have been linked to the Big Five personality traits, and many of the same variants are also associated with health, longevity, careers, income, and everyday habits. The findings reveal a surprisingly wide genetic connection between personality and life outcomes while showing that environment still plays a powerful role.

Your personality may be more genetic than scientists realized. Com An international team of scientists has identified more than 1,200 genetic variants associated with the Big Five personality traits.

The findings also suggest that many of the same genetic patterns connected to personality are related to many life outcomes, including health, longevity, education, careers, and income. The study, led by the Revived Genomics of Personality Consortium, brought together data from 46 research cohorts around the world.

Participants provided DNA samples and completed questionnaires designed to measure the Big Five personality traits: openness to experience, conscientiousness, extraversion, agreeableness and neuroticism. These traits describe relatively stable patterns in how people tend to think, feel, and behave.

Researchers compared participants’ genetic data with differences in their personality scores to identify genetic variants associated with each trait.

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