This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored. During hospitalization, she had ventricular arrhythmia and extremely elevated cardiac troponin levels. Internal examination and immunohistochemistry revealed cardiac fibromas of the right and left ventricles and extensive hypoxic myocardial damage. The right ventricular fibroma demonstrated interdigitating and entrapped myocardium visible at the edges and within the central portion of the tumor. The left ventricular fibroma originated in the subepicardial region and propagated towards the endocardium.
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http://dx.doi.org/10.1007/s00194-023-00615-2 | DOI Listing |
Mol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
December 2024
Department of Pathology, College of Basic Medicine of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010059, People's Republic of China.
Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).
View Article and Find Full Text PDFMedicina (Kaunas)
October 2024
Department of Plastic and Reconstructive Surgery, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, 7 Keunjaebong-gil, Hwaseong-si 18450, Gyeonggi-do, Republic of Korea.
Int J Cardiol
January 2025
Pediatric Cardiology and Cardiac Arrhythmias and Syncope Unit, Bambino Gesù Children's Hospital, IRCSS, 00146 Rome, Italy; European Reference Network for Low Prevalence and Rare Disease of the Heart- ERN Guard Heart, Italy. Electronic address:
J Cardiothorac Surg
September 2024
Department of Cardiology, Virginia Tech Carilion Roanoke Memorial Hospital, 1906 Belleview Ave SE, Roanoke, VA, 24015, USA.
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