Diagnosis At present, there are no diagnostic criteria for SQTS. [litfl.com]

Clinical presentation The clinical presentation of SQTS is also diverse with a high penetrance but a great variability of expression between different families and even among members of the same family. SQTS is characterized by a high lethality. [escardio.org]

All probands presented with a QTc below 320 ms without evident structural heart disease. [ncbi.nlm.nih.gov]

Short Q-T syndrome is a congenital defect, which means it is present at birth. The condition is inherited from at least one parent. [my.clevelandclinic.org]

• Short QT Interval

  Atrial fibrillation in the setting of familial short QT interval. Heart Rhythm 2004; 1: S165 (abstract). [escardio.org]

  Syndrome Note the short QT interval, tall, peaked T waves and nearly absent ST segments. [ncbi.nlm.nih.gov]

  Short QT interval There is currently no universally accepted lower limit of normal for the QT interval that can be used to diagnose SQTS. [litfl.com]

• ST Elevation

  Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST- segment elevation, short QT intervals, and sudden cardiac death. Circulation 2007: 115: 442-449. 10. [escardio.org]

• Early Repolarization

  High prevalence of early repolarization in short QT syndrome. Heart Rhythm 2010; 7: 647– 652. 15. Schimpf R, Bauersfeld U, Gaita F, et al. [escardio.org]

In asymptomatic patients with a short QTc interval, observation without treatment is recommended 3. [e-cardiogram.com]

Treatment Options At present, the only effective treatment is implantation of an ICD. The main problem with this is T-wave oversensing and inappropriate shocks due to the tall, narrow T waves seen in SQTS. [litfl.com]

Even though ICD is the only effective treatment, it also has specific problems in these patients. [escardio.org]

Gaita F, Giustetto C, Bianchi F, Schimpf R, Haissaguerre M, Calo L et al (2004) Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 43:1494–1499 PubMed CrossRef 12. [springermedizin.de]

Short QT syndrome: pharmacological treatment. J Am Coll Cardiol. 2004; 43 :1494–9. [ PubMed ] [ Google Scholar ] 33. Wolpert C, Schimpf R, Giustetto C et al. [ncbi.nlm.nih.gov]

However, it should be emphasised that the prognosis of patients with asymptomatic SQTS still remains undefined. [ncbi.nlm.nih.gov]

Interestingly, four of these five genes have been implicated in the etiology of long QT syndrome but with mutations in the opposite sense, that’s to say, loss of function mutations instead of gain of function mutations of potassium channels. [escardio.org]

[…] appropriate discharges Prevention of symptomatic episodes of atrial fibrillation However, drugs must be used with caution since the long-term efficacy of drug therapy in preventing serious arrhythmic events has been studied only in SQTS 1 patients and [escardio.org]

But, it is important for anyone who knows they have SQTS to see a doctor for regular care to prevent sudden cardiac death or cardiac arrest. What causes SQTS? Short Q-T syndrome is a congenital defect, which means it is present at birth. [my.clevelandclinic.org]

This information is important because it supports the need to consider implanting an ICD for secondary prevention of CA even in young SQTS patients. Anttonen O, Junttila J, Giustetto C, et al. T-Wave morphology in short QT syndrome. [e-cardiogram.com]

Reprogramming the decay delay, sensitivity or both generally prevents inappropriate discharges. [ncbi.nlm.nih.gov]

Quinidine is currently the agent of choice, having been shown in SQTS 1 patients to markedly prolong both the QT interval and ventricular refractory period, with normalisation of ST segments and T waves and prevention of VF induction. [litfl.com]