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Short QT syndrome type 3(SQT3)

MedGen UID:
400662
Concept ID:
C1865018
Disease or Syndrome
Synonym: Short QT Syndrome 3
 
Gene (location): KCNJ2 (17q24.3)
 
Monarch Initiative: MONDO:0012314
OMIM®: 609622

Definition

Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). [from OMIM]

Additional description

From MedlinePlus Genetics
If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.

Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.  https://medlineplus.gov/genetics/condition/short-qt-syndrome

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Shortened QT interval
MedGen UID:
489827
Concept ID:
C0151879
Finding
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Presyncope
MedGen UID:
148578
Concept ID:
C0700200
Sign or Symptom
Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.
Mildly reduced left ventricular ejection fraction
MedGen UID:
868399
Concept ID:
C4022793
Finding
A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.

Professional guidelines

PubMed

Schimpf R, Veltmann C, Papavassiliu T, Rudic B, Göksu T, Kuschyk J, Wolpert C, Antzelevitch C, Ebner A, Borggrefe M, Brandt C
Heart Rhythm 2012 May;9(5):776-81. Epub 2012 Jan 11 doi: 10.1016/j.hrthm.2012.01.006. PMID: 22245794Free PMC Article

Recent clinical studies

Diagnosis

Ji Y, Veldhuis MG, Zandvoort J, Romunde FL, Houtman MJC, Duran K, van Haaften G, Zangerl-Plessl EM, Takanari H, Stary-Weinzinger A, van der Heyden MAG
J Biomed Sci 2017 Jul 15;24(1):44. doi: 10.1186/s12929-017-0352-x. PMID: 28711067Free PMC Article

Prognosis

Moreno-Manuel AI, Macías Á, Cruz FM, Gutiérrez LK, Martínez F, González-Guerra A, Martínez Carrascoso I, Bermúdez-Jimenez FJ, Sánchez-Pérez P, Vera-Pedrosa ML, Ruiz-Robles JM, Bernal JA, Jalife J
Cardiovasc Res 2024 Apr 30;120(5):490-505. doi: 10.1093/cvr/cvae019. PMID: 38261726Free PMC Article
Deo M, Ruan Y, Pandit SV, Shah K, Berenfeld O, Blaufox A, Cerrone M, Noujaim SF, Denegri M, Jalife J, Priori SG
Proc Natl Acad Sci U S A 2013 Mar 12;110(11):4291-6. Epub 2013 Feb 25 doi: 10.1073/pnas.1218154110. PMID: 23440193Free PMC Article

Clinical prediction guides

Moreno-Manuel AI, Macías Á, Cruz FM, Gutiérrez LK, Martínez F, González-Guerra A, Martínez Carrascoso I, Bermúdez-Jimenez FJ, Sánchez-Pérez P, Vera-Pedrosa ML, Ruiz-Robles JM, Bernal JA, Jalife J
Cardiovasc Res 2024 Apr 30;120(5):490-505. doi: 10.1093/cvr/cvae019. PMID: 38261726Free PMC Article
Deo M, Ruan Y, Pandit SV, Shah K, Berenfeld O, Blaufox A, Cerrone M, Noujaim SF, Denegri M, Jalife J, Priori SG
Proc Natl Acad Sci U S A 2013 Mar 12;110(11):4291-6. Epub 2013 Feb 25 doi: 10.1073/pnas.1218154110. PMID: 23440193Free PMC Article

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