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The QT interval
Published in Andrew R Houghton, Making Sense of the ECG, 2019
Although congenital long QT syndromes are well recognized, it is only since 2000 that congenital short QT syndrome has been recognized as a clinical entity. The congenital short QT syndromes appear to follow an autosomal dominant pattern of inheritance and mutations affecting the genes KCNH2, KCNQ1 and KCNJ2 (which are linked to potassium channels) and CACNA1C, CACNB2 and CACNA2D1 (which are linked to calcium channels) have so far been identified.
Emerging therapeutic targets in the short QT syndrome
Published in Expert Opinion on Therapeutic Targets, 2018
Jules C Hancox, Dominic G Whittaker, Chunyun Du, A. Graham Stuart, Henggui Zhang
SQT6 was identified from a 17-year-old female who suddenly lost consciousness in church. Ventricular fibrillation was terminated by defibrillation. In hospital, her ECG was found to exhibit a short QTc interval (329 ms) and tall, narrow T waves [74]. Programmed electrical stimulation could elicit AF and VT. Genetic screening revealed a S755T substitution in the CACNA2D1-encoded Cavα2δ-1 subunit of the L-type Ca2+ channel. Coexpression of the mutant Cavα2δ-1 subunit with Cav1.2α1 and Cavβ2b led to reduced ICa,L (using Ba2+ ions as charge carrier) compared to the WT control, without an obvious effect on surface expression, suggestive of a modification of single channel properties by the S755T Cavα2δ-1 [74].
Recent advances in the treatment of Brugada syndrome
Published in Expert Review of Cardiovascular Therapy, 2018
Mariana Argenziano, Charles Antzelevitch
Variants in CACNA1C (Cav1.2), CACNB2b (Cavß2b), and CACNA2D1 (Cavα2δ) have been reported in up to 13% of probands [102–105]. Mutations in glycerol-3-phophate dehydrogenase 1-like enzyme gene (GPD1L), SCN1B (β1-subunit of Na channel), KCNE3 (MiRP2), SCN3B (β3-subunit of Na channel), KCNJ8 (Kir6.1), KCND3 (Kv4.3), RANGRF (MOG1), SLMAP, ABCC9 (SUR2A), SNC2B (Navß2), PKP2 (Plakophillin-2), FGF12 (FHAF1), HEY2, and SEMA3A (Semaphorin) are relatively rare [106–117]. An association of BrS with SCN10A, a neuronal sodium channel, was recently reported [118,119].
Histopathology of the Conduction System in Long QT Syndrome
Published in Fetal and Pediatric Pathology, 2022
Alexandra Rogers, Rachel Taylor, Janet Poulik, Bahig M. Shehata
The three patients identified were two males (7 and 9 years of age) and one female (6 years of age). The molecular mutations in our cohort of patients were: a KCNQ1 gene mutation (seen in Fig. 2), likely the product of consanguinity, in the 6 year old, a CACNA2D1 (coding for the Ca(v)α(2)δ-1 subunit of the L-type calcium channel) gene mutation in the 7 year old (seen in Fig. 4), and a KCND3 (encoding the alpha-subunit of the voltage-gated potassium channels Kv4.3) gene mutation in the 9 year old (seen in Figs. 6 and 8). Further information regarding these patients can be found in Table 4.