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Familial Short QT Syndrome

SQTS


Presentation

  • Management and treatment At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.[orpha.net]
  • Only 1 of the probands in the present study presented with a QTc 330 ms (patient 1).[circ.ahajournals.org]
Italian
  • Gallagher et al 8 recently reported that in healthy Italian males, QTc interval 19 reported that in a middle-aged Finnish population, prevalence of QT interval 20 reported a prevalence of 0.01% of QTc interval 21 It is noteworthy that shorter than normal[circep.ahajournals.org]
Malaise
  • He reported malaise, but denied prodromes, chest pain, palpitations or dyspnea. His wife, who witnessed the episodes, described them as lasting for about five minutes, with spontaneous and complete recovery.[elsevier.pt]
Family History of Heart Disease
  • The mother (III, 2; Figure 1 A) of the siblings had a normal ECG and no family history of heart disease or sudden death. Electrophysiological Study Electrophysiological study was performed in patients 1 and 2.[doi.org]
Neonatal Seizures
  • […] periodic paralysis Isolated NADH-CoQ reductase deficiency 17p13.3 microduplication syndrome Distal 17p13.3 microdeletion syndrome Miller-Dieker syndrome Autosomal dominant hypohidrotic ectodermal dysplasia Benign familial infantile seizures Benign familial neonatal[csbg.cnb.csic.es]
Nocturnal Seizure
  • Several nocturnal seizure-like motions of the patient followed by sudden awakening with palpitations have been reported [12]. 3.[doi.org]

Workup

Left Axis Deviation
  • A, Patient 1 (IV, 3): sinus rhythm, heart rate 52 beats per minute (bpm); left-axis deviation, QT 280 ms. B, Patient 2 (IV, 2): sinus rhythm, heart rate 96 bpm; left-axis deviation, QT 220 ms.[doi.org]
Prominent U Wave
  • U wave can be observed, separated by an isoelectric T–U segment. 14 Longer T peak – T end interval may be observed, suggestive of augmented transmural dispersion of refractoriness. 15 Depression of the PQ segment, due to a heterogeneous abbreviation[doi.org]
  • The resting ECG is unremarkable, except for sinus bradycardia and prominent U waves in some patients. The most typical arrhythmia of CPVT is bidirectional ventricular tachycardia presenting with an alternating QRS axis.[circ.ahajournals.org]
Prominent A-Wave
  • This is due to the detection of short-coupled and prominent T waves. 11 The problem was corrected by reprogramming to lower sensitivity and decay delay.[cogprints.org]
  • Recently, concern has been raised about inappropriate shocks, especially in relation to the presence of short-coupled prominent T waves.[dx.doi.org]
  • U wave can be observed, separated by an isoelectric T–U segment. 14 Longer T peak – T end interval may be observed, suggestive of augmented transmural dispersion of refractoriness. 15 Depression of the PQ segment, due to a heterogeneous abbreviation[doi.org]

Treatment

  • Management and treatment At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.[orpha.net]
  • "Short QT syndrome: pharmacological treatment". J Am Coll Cardiol 43 (8): 1494-9.[crediblemeds.org]
  • Their collective work has contributed to our current understanding of its hereditary features, clinical manifestations, and treatment options. Short QT Syndrome is a rare disease.[shortqtsyndrome.org]

Prognosis

  • Studies with various adult populations have identified individuals who met the SQTS diagnostic criteria; however, these patients were asymptomatic and did not have a poor prognosis.[jpccs.jp]
  • Even when diagnosed early, this cancer has a poor prognosis, presenting an associated 2-year survival rate of 10% 2.[sophiagenetics.com]
  • Short QT in a cohort of 1.7 million persons: prevalence, correlates, and prognosis. Ann Noninvasive Electrocardiol. 2014 Sep;19(5):490-500. 9.[babymhospital.org]
  • The rarity of short QT syndrome makes calculating prognosis accurately difficult. The risk of sudden cardiac death has been estimated at 0.8% per year, leading to a cumulative risk of sudden cardiac death of 41% by the age of 40.[en.wikipedia.org]
  • A mutation in GPD1L has been shown to result in a partial reduction of I Na Knowledge thus far gained through genetic analysis suggests that identification of specific mutations may not be very helpful in formulating a diagnosis or providing a prognosis[af-ablation.org]

Etiology

  • Etiology Mutations in three different genes KCNQ1, KCNH2, and KCNJ2, all encoding cardiac ionic potassium channels have been identified in affected patients.[orpha.net]
  • Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases.[centogene.com]
  • After considering the etiology and the pathogenesis of various forms of abnormal shortening of the QTI, experimental models and the possible arrhythmogenic potential of the short QTI, we hypothesized that this hereditary phenomenon probably reflects an[dx.doi.org]

Epidemiology

  • Summary Epidemiology This extremely rare syndrome affects mainly young adults or infants. Clinical description The clinical spectrum is very wide ranging from asymptomatic carriers to syncope or sudden death.[orpha.net]
  • […] verruciformis Catecholaminergic polymorphic ventricular tachycardia Leigh syndrome with leukodystrophy STT3B-CDG Synonym(s): - SQTS Classification (Orphanet): - Rare cardiac disease - Rare genetic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • For each, we will describe the key steps that first led to the identification of the syndrome before moving into a discussion of our current understanding of each entity, including the epidemiology, genetics, diagnosis, clinical manifestations, and management[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • In this article we review the current information on the prevalence, risk factors, pathophysiology, and treatment of AF in specific cardiac channelopathies. Copyright 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • Here we review the current understanding of the pathophysiology, clinical presentation and treatment of short QT syndrome.[dx.doi.org]
  • Amplification of epicardial and TDR secondary to the presence of genetic defects, pathophysiologic factors, and pharmacologic influences, leads to accentuation of the J wave and eventually to loss of the AP dome, giving rise to extrasystolic activity[af-ablation.org]
  • The definition of a pathophysiologic long QT interval evolved over a period of several decades and it may take some time to define what constitutes a pathophysiologic short QT interval.[circep.ahajournals.org]

Prevention

  • In this last decade, with more than 50 new disease-associated genes identified, the possibility of genetic testing has opened a new opportunity to disease diagnosis and prevention.[books.google.com]
  • Management and treatment At present, an automatic implantable defibrillator is the only effective treatment for the prevention of sudden death in the short QT syndrome.[orpha.net]
  • 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]

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