Bidirectional ventricular tachycardia is the hallmark ventricular arrhythmia, but also premature ventricular contractions, and rarely, polymorphic ventricular tachycardia of torsade de pointes type may be present. [researchportal.vub.be]

Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. [doi.org]

He presented elevated CPK levels at admission (1325 U/mL). [elsevier.es]

• Single Transverse Palmar Crease

  transverse palmar crease of both hands, and cryptorchidism). [doi.org]

• Palpitations

  Conclusion Our aim is to educate physicians of such rare clinical entity and its high phenotypic variability while evaluating patients with palpitations and periodic paralysis. [jacc.org]

  An electrocardiogram (ECG) is recorded at rest and during palpitations (Figure 1). [heartrhythmjournal.com]

  The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death. [ghr.nlm.nih.gov]

  This can result into an irregular heartbeat and later in palpitation, fainting, drowning and sometimes into sudden death. There is not any standard treatment though but the treatment varies case to case according to symptoms. [lybrate.com]

  Muscle weakness, palpitations and a small chin: the Andersen–Tawil syndrome S Rajakulendran1, S V Tan2, M G Hanna3 1Research Fellow, Institute of Neurology, University College of London, London, UK 2Consultant Neurophysiologist, National Hospital for [pn.bmj.com]

• Prolapse

  […] of catecholaminergic polymorphic ventricular tachycardia, Circ Res, 2007, vol. 101 (pg. 1039 - 48 ) 13 Flunarizine allows differentiation between mechanisms of arrhythmias in the intact heart, Circulation, 1990, vol. 81 (pg. 343 - 9 ) 14 Mitral valve prolapse [academic.oup.com]

  ( Loeffler endocarditis, Cardiac amyloidosis ) Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis ( Subacute bacterial endocarditis, Libman-Sacks endocarditis, Nonbacterial thrombotic endocarditis ) mitral ( regurgitation, prolapse [wikidoc.org]

• Small Hand

  […] of finger Short finger bones 0009803 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Small hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triangular [rarediseases.info.nih.gov]

  hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or 2. [rareguru.com]

  Hypertelorism, small mandible, tooth crowding, and small hands were also observed. Table 1 provides a summary of the clinical characteristics of our patients. Table 1. [frontiersin.org]

  Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis). [rarediseases.org]

• Areflexia

  His motor system examination revealed generalized hypotonia with power of grade 0/5 (MRC scale) and areflexia without any muscle wasting in all four limbs. There was no sensory deficit. There was no bowel or bladder involvement. [japi.org]

  Neurological examination revealed symmetrical flaccid muscle paralysis involving predominantly the thighs and calves, areflexia without sensory involvement and positive Trousseau sign. [wjgnet.com]

To prevent sudden cardiac death, cardiac evaluation with serial ECGs with calculation of corrected QT-intervals (QTc) are essential and should be performed early in all patients undergoing workup for periodic paralysis. [accessanesthesiology.mhmedical.com]

Diagnosis and Treatment The diagnostic workup included a variety of tests: blood tests performed during episodes of paralysis and in between them always showed normal electrolyte levels, including potassium; thyroid hormones, metabolic tests, and creatine [karger.com]

Clinical Testing and Workup Because potassium levels may be reduced during an episode of periodic paralysis, a blood test to determine the serum potassium levels during an episode can be helpful in diagnosing the disorder in some cases. [rarediseases.org]

• Bidirectional Ventricular Ectopy

  Title Other Names: Long QT syndrome 7; LQT7; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; Long QT syndrome 7; LQT7; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; Andersen cardiodysrhythmic [rarediseases.info.nih.gov]

• Prominent U Wave

  Pseudo “Tee-pee sign” during a PVC, there is a prolongation of the descending limb of the T+U-wave. In ATS1, the QT interval can appeared prolonged and difficult to quantify because of a prominent U-wave. [wikidoc.org]

  Accounting for the small sample size, prominent U-waves and the “U on P sign” seem to be the most consistent across studies. [innovationsincrm.com]

  Her 7-year-old daughter has episodic muscle weakness, cardiac involvement with premature ventricular contractions and prominent U wave, and distinctive skeletal features while the younger daughter has only skeletal features. [ng.neurology.org]

  ECG was notable for prominent U waves, with sinus rhythm and a normal QT interval. Genetic screening identified a heterozygous mutation in the KCNJ2 gene. The patient returned during an attack for nerve conduction and needle EMG studies. [neurologytimes.com]

Management and treatment Treatment depends on the individual and their reaction to potassium. Patients with severe arrhythmias may require a pacemaker. The documents contained in this web site are presented for information purposes only. [orpha.net]

For the prevention of PP, there has been no established treatment as yet, but acetazolamide has been reported to be effective in some ATS patients [ ]. Here, we report a case of genetically diagnosed ATS whose PP was exacerbated by acetazolamide. [jns-journal.com]

Therefore, treatment of ATS requires close collaborative efforts between cardiologists and neurologists because a patient's treatment response may be variant-specific. [nmd-journal.com]

Studies should include long‐term follow‐up, cost benefits of treatment, effects of treatment on permanent muscle weakness, adverse events, as well as efficacy. [doi.org]

The purpose of this review is to present historical aspects, nomenclature (observations/criticisms), epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis, [researchportal.vub.be]

Biology Cardiology in review 2020 The purpose of this review is to present historical aspects, nomenclature, epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis [semanticscholar.org]

Diagnosis - Andersen Tawil syndrome Prognosis - Andersen Tawil syndrome Not supplied. Treatment - Andersen Tawil syndrome Resources - Andersen Tawil syndrome [checkorphan.org]

Andersen-Tawil syndrome Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Differentiating Andersen-Tawil syndrome from other Diseases Epidemiology and Demographics Screening Natural History, Complications and Prognosis [wikidoc.org]

Summary Etiology Mutations in KCNJ2, which encodes the alpha subunit of the potassium channel Kir2.1, account for approximately 60% of cases. [orpha.net]

This concept has proven valuable for classifying disorders and understanding their etiology. In the case of muscle channelopathies, it has been especially helpful in the understanding of a group of rare disorders that, on the surface, are different. [journals.lww.com]

> ; # Epidemiology schema:about http://experiment.worldcat.org/entity/work/data/1375926537#Thing/internal_medicine > ; # Internal medicine. schema:about http://experiment.worldcat.org/entity/work/data/1375926537#Topic/heart_physiology > ; # Heart--physiology [worldcat.org]

The purpose of this review is to present historical aspects, nomenclature (observations/criticisms), epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis, [researchportal.vub.be]

Medicine, Biology Cardiology in review 2020 The purpose of this review is to present historical aspects, nomenclature, epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis [semanticscholar.org]

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info EPISODIC MUSCLE WEAKNESS Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis, Hereditary: General features Epidemiology [neuromuscular.wustl.edu]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Pathophysiology Other forms of periodic paralysis result from mutations in skeletal muscle-specific Na+-, K+-, and Ca2+-channels. ATS is unique among the channelopathies due to its combination of a skeletal and a cardiac muscle phenotype. [accessanesthesiology.mhmedical.com]

Hereby, we describe a patient with an already known mutation in the KCNJ2 gene and relatively stable ATS disease that worsened dramatically after developing Graves’ disease, strengthening the pathophysiological link between the Kir 2.1 channel and TPP [nature.com]

Pathophysiology of ATS The inward rectifier potassium channel protein Kir2.1 is encoded by the KCNJ2 gene, which is mainly expressed in the heart and skeletal muscle tissue. [acroscell.creative-bioarray.com]

[…] mostly inherited as autosomal dominant traits Hypokalaemic periodic paralysis Aetiology & epidemiology - 1/3 cases sporadic - remainder predominantly inherited but in young men, particularly Latin Americans & Orientals may occur in association with TTX Pathophysiology [aic.cuhk.edu.hk]

Jump to navigation Jump to search Andersen-Tawil syndrome Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Differentiating Andersen-Tawil syndrome from other Diseases Epidemiology and Demographics Screening [wikidoc.org]

Secondary Prevention Tertiary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies Case Studies Case #1 Andersen-Tawil syndrome electrocardiogram On the Web Most recent articles Most cited articles Review articles CME Programs [wikidoc.org]

For the prevention of PP, there has been no established treatment as yet, but acetazolamide has been reported to be effective in some ATS patients [ ]. Here, we report a case of genetically diagnosed ATS whose PP was exacerbated by acetazolamide. [jns-journal.com]

The treatment approach should include both management of acute attacks and prevention of attacks. [ncbi.nlm.nih.gov]

Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. [bionity.com]