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82 Possible Causes for Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene, Relative Resting Bradycardia

  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    […] 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] Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations.[ncbi.nlm.nih.gov] Genetic variants of CPVT include RyR2 , CASQ2 , CALM2 , TRD , and possibly KCNJ2 and ANK2 gene mutations.[doi.org]

    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: Relative Resting Bradycardia
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    The 12-lead resting ECG is usually within normal limits, though a relative sinus bradycardia or prominent U waves may be seen as non-specific findings [ 2 , 6 , 9 , 11 , 16[link.springer.com] 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] Resting ECG was normal except for a relative bradycardia of 45 bpm (1).[bmcmedgenet.biomedcentral.com]

    Missing: Most Patients Have Adult Onset of Symptoms
  • 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 Relative Resting Bradycardia
  • Syncope

    Bradycardia and Tachycardia In pediatric patients, syncope caused by isolated bradycardia is relatively uncommon.[doi.org] In children, resting bradycardia may indicate drug ingestion, cardiac manifestations of anorexia nervosa, or central nervous system trauma.[doi.org]

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

    These patients were diagnosed serologically and analyzed retrospectively: 337 (68.4%) responded to fever with increased heart rate 10 beats/minute/ C (relative bradycardia[ncbi.nlm.nih.gov] The term relative bradycardia is used in explaining a heart rate that, although not actually below 60 BPM, is still considered too slow for the individual's current medical[dbpedia.org] While sinus bradycardia can produce significant symptoms, the risk of dying from it is relatively low. Normal vs.[verywellhealth.com]

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

    However, a relative bradycardia may be greater than 60 bpm if that rate is too slow for the haemodynamic requirements of the patient.[patient.info] .[3] The term "relative bradycardia" is used to refer to a heart rate that, although not actually below 60 BPM, is still considered too slow for the individual's current medical[en.wikipedia.org] Children tend to have a higher resting pulse rate than adults and generally the smaller they are, the faster the heart rate.[patient.info]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Long QT Syndrome

    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] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] […] to selectively suppress the mutant gene while sparing the wild-type counterparts.[ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms Relative Resting Bradycardia
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

    Resting ECG was normal except for a relative bradycardia of 45 bpm (1).[bmcmedgenet.biomedcentral.com]

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

    However, a relative bradycardia may be greater than 60 bpm if that rate is too slow for the haemodynamic requirements of the patient.[patient.info] Children tend to have a higher resting pulse rate than adults and generally the smaller they are, the faster the heart rate.[patient.info]

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