Create issue ticket

146 Possible Causes for Most Patients Have Adult Onset of Symptoms, 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    The onset of symptoms can occur in childhood or adulthood; most patients have adult onset.[rarediseases.org] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms.[rarediseases.org]

    Missing: Notched T Wave
  • 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Alcoholic Cardiomyopathy

    Herz. 2016 Sep;41(6):484-93. doi: 10.1007/s00059-016-4469-6. Author information 1 Herz- und Gefäßzentrum Marburg (HGZ) und Philipps Universität Marburg, Feldbergstr. 45, 35043, Marburg, Deutschland. bermaisch@gmail.com. Abstract The individual amount of alcohol consumed acutely or chronically decides on harm or[…][ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Congenital Heart Disease

    Welcome! to the world's largest information resource for pediatric and adult congenital heart disease! ¡Disponible En Español! This site was developed under the medical direction of Allen D. Everett, MD Resources for Medical Professionals Illustrated Field Guide to Congenital Heart Disease and Repair and the[…][congenital.info]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    , 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Long QT Syndrome 6

    Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations. Circulation 2001;103:1095–1101. Google Scholar 17.[springerlink.com] […] of notched T waves is highly concerning.[epmonthly.com] His father, with notched T waves and a QTc 584 ms, has had 2 syncopal episodes. The arrows point to examples of notched T wave.[ojrd.biomedcentral.com]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • 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]

    Missing: Most Patients Have Adult Onset of Symptoms