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4,087 Possible Causes for Cardiac Arrhythmia, Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    arrhythmias back to the top Return to The Medical Biochemistry Page Michael W King, PhD 1996–2019 themedicalbiochemistrypage.org, LLC info @ themedicalbiochemistrypage.org[themedicalbiochemistrypage.org] 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]

  • Long QT Syndrome

    Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003. 421 :634-639. Mohler, PJ, et al.[jci.org] 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Long QT Syndrome 15

    [Rare Cardiac Arrhythmias of the Pediatric Age. II. Syncopal Attacks Due To Paroxysmal Ventricular Fibrillation.[revistas.uis.edu.co] カテゴリ 循環器疾患 階層分類 ヒト疾患 [BR: jp08402 ] 循環器系疾患 心疾患 H00720 QT 延長症候群 ICD-11 による疾患分類 [BR: jp08403 ] 11 Diseases of the circulatory system Cardiac arrhythmia BC65 Cardiac arrhythmia[genome.jp] Arrhythmias Research and Education (CARE) Foundation: Cardiac Arrest Survivors Network (CASN): International Registry for Drug-Induced Arrhythmias, including drugs to use[slideplayer.es]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    There has been a significant progress in our understanding of the molecular mechanisms by which calcium (Ca2 ) ions mediate various types of cardiac arrhythmias.[ncbi.nlm.nih.gov] […] 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]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    arrhythmia syndrome with a prevalence of 1 in 10,000 that causes sudden cardiac death (SCD).[era-learn.eu] 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] The Inherited Cardiac Arrhythmia Program at Boston Children’s specializes in family-based services for children with CPVT, including counseling.[childrenshospital.org]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Ventricular Arrhythmia

    Several case reports and studies linked domperidone usage with major cardiovascular adverse events (cardiac arrhythmia and sudden cardiac death).[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] The patient recovered well with no cardiac arrhythmia after surgery over 12 months of follow-up.[ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Metabolic Alkalosis

    *increased pH *Increased HCO3 accumulation of HCO3 or decrease in H concentration *if left untreated can cause cardiac arrhythmia, coma, or death vomiting or gastric suction[quizlet.com] Most patients with Gitelman's syndrome have onset of symptoms as adults, but some can present in childhood.[patient.info] Weakness and cardiac arrhythmias may result from severe hypokalemia.[emedicine.medscape.com]

    Missing: Mutation in the CALM2 Gene
  • Long QT Syndrome 10

    DRG Group #308-310 - Cardiac arrhythmia and conduction disorders with CC. DRG Group #308-310 - Cardiac arrhythmia and conduction disorders without CC or MCC.[icd.codes] 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] Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003. 421 :634-639.[jci.org]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Long QT Syndrome 13

    Introduction Familial or hereditary cardiac arrhythmias comprise significant percentages of arrhythmias and also causal to sudden cardiac death (SCD) ( 1, 2 ).[frontiersin.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] Cardiac arrhythmias do not only affect children but can also affect adults. You may even know some of the names.[briannabadger.com]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Gitelman Syndrome

    GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia.[ncbi.nlm.nih.gov] Most patients with Gitelman's syndrome have onset of symptoms as adults, but some can present in childhood.[patient.info] Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. All GS patients are encouraged to maintain a high-sodium and high potassium diet.[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene

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