Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000000537
Abstract: Purpose of review In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called ‘channelopathies’ that are associated with sudden cardiac… read more here.
Keywords: causes sudden; sudden cardiac; inherited arrhythmogenic; genetic causes ... See more keywords
Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2023.1118585
Abstract: In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as… read more here.
Keywords: death; post mortem; inherited arrhythmogenic; molecular autopsy ... See more keywords
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population
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DOI: 10.3390/biomedicines10010106
Abstract: Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive… read more here.
Keywords: pediatric population; inherited arrhythmogenic; arrhythmogenic disease; genetics ... See more keywords
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12020241
Abstract: The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics.… read more here.
Keywords: missense ttn; role; ttn variants; ttn ... See more keywords