Purpose: Sudden cardiac death (SCD) in the young is a devastating event occurring in otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help identify a cause, though there is potential for uncertainty. We report psychological adaptation to molecular autopsy findings amongst family members after a young SCD.
Methods: First-degree relatives who had experienced a SCD of a young relative and attended a specialized cardiac genetic clinic were invited to complete a cross-sectional, self-report survey comprising a number of validated scales. Clinical, genetic, and family history information was collected from the medical record.
Results: Thirty-three individuals from 27 families (response rate 48%) completed a survey (mean age 49 ± 12 years, 49% were mothers of the decedent). Eleven (36%) reported poor adaptation to genetic information, and compared with those with good adaptation, they were more likely to have worse posttraumatic stress symptoms (p = 0.0004) and depression (p = 0.01). Perceived support was lower in those reporting poor adaptation, including social support (p < 0.0001) and perceived support from significant others (p = 0.03), family members (p = 0.001), and friends (p = 0.0002).
Conclusion: Adaptation to molecular autopsy findings may be difficult for some relatives following a young SCD. Careful pretest genetic counseling and integration of psychological support is needed.
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http://dx.doi.org/10.1038/s41436-018-0338-4 | DOI Listing |
Heart Rhythm
March 2025
Cardiovascular Research Program, VA New York Harbor Healthcare System, SUNY Downstate Health Sciences University, New York, NY, United States; New York University Grossman School of Medicine, New York, NY, United States. Electronic address:
Cardiac arrhythmias still represent a major health problem worldwide, at least in part because the fundamental pathogenic mechanisms are not fully understood thus impacting the efficacy of therapeutic measures. In fact, while cardiac arrhythmias are in most cases due to structural heart diseases, the underlying cause remains elusive in a significant number of patients despite intensive investigations even including post-mortem examination and molecular autopsy. A large body of data progressively accumulated over the last decade provides strong evidence that autoimmune mechanisms may be involved in a significant number of such unexplained or poorly explained cardiac arrhythmias.
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March 2025
Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.
Cocaine consumption is a significant global problem, with an estimated 20 million users worldwide. Sudden cardiac death is frequently reported in this population, particularly among individuals <40 years of age. The role of underlying inherited heart disorders in these cases remains largely unexplored.
View Article and Find Full Text PDFNat Neurosci
March 2025
Momentum Laboratory of Neuroimmunology, HUN-REN Institute of Experimental Medicine, Budapest, Hungary.
COVID-19 is associated with diverse neurological abnormalities, but the underlying mechanisms are unclear. We hypothesized that microglia, the resident immune cells of the brain, are centrally involved in this process. To study this, we developed an autopsy platform allowing the integration of molecular anatomy, protein and mRNA datasets in postmortem mirror blocks of brain and peripheral organ samples from cases of COVID-19.
View Article and Find Full Text PDFNat Commun
March 2025
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Chronic kidney disease (CKD) and the genetic disorder myotonic dystrophy type 1 (DM1) each are associated with progressive muscle wasting, whole-body insulin resistance, and impaired systemic metabolism. However, CKD is undocumented in DM1 and the molecular pathogenesis driving DM1 is unknown to involve the kidney. Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1, 4-Hydroxyphenylpyruvate dioxygenase, Dihydropyrimidinase, Glutathione S-transferase alpha-1, Aminoacylase-1, and Electron transfer flavoprotein B in DM1.
View Article and Find Full Text PDFCureus
January 2025
Department of Molecular Microbiology and Immunology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, JPN.
Prion diseases are fatal neurodegenerative disorders. Previous studies have indicated the presence of "prion carriers" who remain asymptomatic, but scrapie prion protein (PrP) has begun to accumulate in the brain. Indeed, we identified an undiagnosed case of prion disease in a cadaver used for the anatomical practice of medical students.
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