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11 Possible Causes for Mutation in the CALM2 Gene, Notched T Wave

  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][genome.jp]

  • Long QT Syndrome

    All LQT subjects had biphasic or notched T waves.[ncbi.nlm.nih.gov] RESULTS: A novel de novo CALM2 mutation (D132H) was discovered by candidate gene screening in a male infant with prenatal bradycardia born to healthy parents.[ncbi.nlm.nih.gov] A physiological U wave should be distinguished from a notched or bifid T wave.[thecardiologyadvisor.com]

  • Long QT Syndrome 13

    […] alternans [1 point] Notched T wave in 3 leads [1 point] Low heart rate for age [0.5 point] Clinical history Syncope [2 points] With stress [1 point] Without stress [1 point[athletesheart.org] This prompted candidate-gene screening in a cohort of 82 LQTS genotype-negative patients. Two more patients were carriers of either CALM1 or CALM2 mutations.[smw.ch] A physiological U wave should be distinguished from a notched or bifid T wave.[thecardiologyadvisor.com]

  • Long QT Syndrome 10

    wave alternans - 1 point Notched T wave in at least 3 leads - 1 point Low heart rate for age (children) - 0.5 points Syncope (one cannot receive points both for syncope and[checkorphan.org] This prompted candidate-gene screening in a cohort of 82 LQTS genotype-negative patients. Two more patients were carriers of either CALM1 or CALM2 mutations.[smw.ch] A physiological U wave should be distinguished from a notched or bifid T wave.[thecardiologyadvisor.com]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    , the T wave is flattened or when notching of the T wave occurs.[doi.org] […] that have been discovered and only represent a small percentage of CPVT cases are TRDN (encoding triadin) and CALM1 (encoding calmodulin). 5,6 Mutations in the CALM2 gene[doi.org] The 12-lead ECG was normal in terms of heart rhythm, without prolongation of QTc interval and without electrical instability (alternating T, notched T and U waves and ST-segment[elsevier.pt]

  • Ventricular Arrhythmia

    The T waves were normal in control subjects but notched (n 6) or biphasic (n 1) in LQT subjects.[doi.org] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] Epinephrine-induced T-wave notching in congenital long QT syndrome. Heart Rhythm. 2005;2:141–6. PubMed CrossRef Google Scholar 48. Schwartz PJ, Malliani A.[doi.org]

  • Catecholaminergic Polymorphic Ventricular Tachycardia 1

    The 12-lead ECG was normal in terms of heart rhythm, without prolongation of QTc interval and without electrical instability (alternating T, notched T and U waves and ST-segment[elsevier.pt] RYR2, CASQ2, KCNJ2 , ANK2, CALM1, CALM2, TRDN, SCN5A* Other Panels that Include this Diagnosis Notes on Genes: Priority Genes: These genes include 70% of the mutations that[admerahealth.com]

  • Jervell and Lange-Nielsen Syndrome 1

    […] alternans 1 - Notched T wave in 3 leads 1 - Low heart rate for age 0.5 Clinical history - Syncope With stress 2 Without stress 1 - Congenital deafness 0.5 Family history‡[itaca.edu.es] […] a low amplitude T wave (sometimes notched, too), whereas LQTS 3 has a narrow based T wave1,2,3,11.[romanianjournalcardiology.ro] A malignant form of LQTS associated to recurrent cardiac arrest due to VF in infants is associated to mutations in CALM1 and CALM2 genes encoding calmodulin (Crotti et al.[itaca.edu.es]

  • Congenital Lethal Myopathy Type Compton-North

    […] alternans 1 point Notched T-waves in at least 3 leads 1 point Low heart rate for age (children) 0.5 points Syncope with stress 2 points Cannot receive points both for syncope[en.wikipedia.org] LQT15 LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] Corrected QT interval (QTc) 480 ms 3 points QTc defined according to Bazett's correction 460-470 ms 2 points 450 ms and male gender 1 point Torsades de pointes 2 points T-wave[en.wikipedia.org]

  • WT Syndrome

    […] alternans 1 Notched T-wave in 3 leads 1 Low heart rate for age (children) 0.5 Syncope With stress Without stress 2 1 Congenital deafness 0.5 Family member with definite LQTS[geneticheartdisease.org] LQT15 LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] If the notch is marked, the action potential in the epicardium is lengthened compared to the endocardium, which causes ST-segment elevation and appearance of negative T-waves[revespcardiol.org]

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