Case Scenario

Nathan, Aruna T.; Antzelevitch, Charles; Montenegro, Lisa M.; Vetter, Victoria L.

doi:10.1097/aln.0b013e31826e73b1

Cited by 13 publications

(9 citation statements)

References 34 publications

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“…Dufendach et al ( 6 ), found that Nadolol conferred better protection against SCD compared to other beta blockers like propranolol. The authors also noted that most patient had better protection when medical therapy was combined with implantable defibrillator device ( 7 ).…”

Section: Discussionmentioning

confidence: 99%

“…Cardiology involvement is of paramount importance for evaluation, optimization and pacemaker placement if the child is having recurrent bradycardic episodes. Beta-blocker therapy should be continued in the perioperative period although this may mask hypoglycemia and cause electrolyte imbalance ( 6 , 7 ). A pre-operative basic metabolic panel or an arterial blood gas is of help to ensure normoglycemia and electrolytes especially potassium.…”

Section: Discussionmentioning

confidence: 99%

“…Sevoflurane; an inhalational agent is commonly used for induction and is reported to have a higher risk of SCD in TS patients compared to other anesthetic agents ( 6 , 7 ). Alternatively, Propofol or thiopental can be used with extreme caution for induction.…”

Section: Discussionmentioning

confidence: 99%

“…Alternatively, Propofol or thiopental can be used with extreme caution for induction. If a muscle relaxant is needed, cis-atracurium is ideal, however anticholinergic/anticholinesterase agents should be avoided for reversal ( 7 ). During critical anesthesia times such as induction, intubation, surgical stimulation, and extubation, measures should be taken to prevent sympathetic stimulation and autonomic dysfunction resulting in arrhythmias which could be fatal ( 8 ).…”

Section: Discussionmentioning

confidence: 99%

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Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

et al. 2021

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Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature. The full spectrum of the syndrome is not yet known.Results: Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of intermittent abdominal distention. She also had syndactyly of her fingers and toes and was found to have prolonged QT. Upon further investigations she was found to have a de novo pathogenic variant in CACNA1C, along with Segmental Ileal Dilatation (SID), and subsequently diagnosed with Timothy syndrome.Conclusion: To our knowledge, the association of Timothy Syndrome with Segmental Ileal Dilatation, was not described before.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

et al. 2021

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“…For now, it was accepted that with the combination of such implantable defibrillator device with the original medicational programme could be a default choice for TS patients (Ref. 55 ).…”

Section: Current Therapeutics For Cardiac Phenotypes Within Tsmentioning

confidence: 99%

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics

Jiang

Zhang

2023

Expert Rev. Mol. Med.

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Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, firstly, the various mutations in causative gene CACNA1C encoding cardiac L-type voltage-gated calcium channel (LTCC), regard with the genetic pathogeny and nomenclature of TS are reviewed. Secondly, the expression profile and function of CACNA1C gene encoding Ca v 1.2 proteins, and its gain-of-function mutation in TS leading to multiple organ disease phenotypes especially arrhythmia are discussed. More importantly, we focus on the altered molecular mechanism underlying arrhythmia in TS, and discuss about how LTCC malfunction in TS can cause disorganised calcium handling with excessive intracellular calcium and its triggered dysregulated excitation-transcription coupling. In addition, current therapeutics for TS cardiac phenotypes including LTCC blockers, beta-adrenergic blocking agents, sodium channel blocker, multichannel inhibitors and pacemakers are summarised. Eventually, the research strategy using patient-specific induced pluripotent stem cells is recommended as one of the promising future directions for developing therapeutic approaches. This review updates our understanding on the research progress and future avenues to study the genetics and molecular mechanism underlying the pathogenesis of devastating arrhythmia within TS, and provides novel insights for developing therapeutic measures.

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Anaesthetics/pancuronium bromide

2015

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Case Scenario

Cited by 13 publications

References 34 publications

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics

Anaesthetics/pancuronium bromide

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