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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): Gene(s) directly associated with this condition or phenotype.	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
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.

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. 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).

See: Feature record | Search on this feature

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.

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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).

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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.

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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.

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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.

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Abnormality of the cardiovascular system
Constitutional symptom
- Sudden cardiac death

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort QT syndrome
- CROGVShort QT syndrome type 1
- CROGVShort QT syndrome type 2
- CROGVShort QT syndrome type 3

Abnormality of the cardiovascular system
- Abnormal cardiovascular system physiology
  - Abnormality of cardiovascular system electrophysiology
    - Cardiac arrhythmia
      - Genetic cardiac rhythm disease
        Short QT syndrome
        Short QT syndrome type 3

Professional guidelines

PubMed

Drug-induced QT-interval shortening following antiepileptic treatment with oral rufinamide.

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: 22245794 Free PMC Article

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Recent clinical studies

Diagnosis

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function K(IR)2.1 channels, but increases channel protein expression.

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: 28711067 Free PMC Article

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Prognosis

The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.

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: 38261726 Free PMC Article

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.

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: 23440193 Free PMC Article

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Clinical prediction guides

The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.

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Short QT syndrome type 3(SQT3)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

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