(Bradycardia relative)
2,472 results
  • Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations. [Case Reports]
    Mol Genet Genomic Med. 2026 Aug; 14(8):e70278.Belmessieri B, Brunetti S, … Accorsi PMG
  • CONCLUSIONS: MGCA8 is a lethal condition characterized by loss-of-function biallelic mutations in HTRA2, which lead to mitochondrial dysfunction and altered apoptosis regulation, especially in the brain. High levels of 3-methylglutaconic acid in urine are one important early diagnostic marker, when associated with a consistent clinical phenotype. Our report contributes to the limited existing case series and provides a detailed characterization of the EEG findings associated with this rare condition.
  • Myxedema Coma Despite Mild Biochemical Hypothyroidism: A Case of Profound Clinical Decompensation. [Case Reports]
    Cureus. 2026 Jul; 18(7):e113595.Mohamed Ahmed SK, Salih D, … Ahmed KC
  • Myxedema coma is a rare endocrine emergency with high mortality that is typically associated with severe biochemical hypothyroidism. However, profound clinical decompensation may occur despite only modest abnormalities in thyroid function tests, making diagnosis challenging. We report the case of an 87-year-old woman with long-standing hypothyroidism, primary adrenal insufficiency, pituitary path…
  • Differential diagnosis between 'athlete's heart' and cardiomyopathies. [Journal Article]
    Br J Cardiol. 2025; 32(3):030.Petrone A, Minopoli TC, … Finocchiaro GBJ
  • Physiological adaptation to exercise results in a series of electrical, structural, and functional cardiac changes, broadly named 'athlete's heart'. Symmetrical enlargement of all cardiac chambers and mild increase in wall thickness are common findings in highly trained athletes. Typical electrocardiogram (ECG) features include sinus bradycardia, first-degree atrioventricular (AV) block, isolated…