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Genetics Home Reference: your guide to understanding genetic conditions
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Short QT syndrome

Reviewed June 2013

What is short QT syndrome?

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.

How common is short QT syndrome?

Short QT syndrome appears to be rare. At least 70 cases have been identified worldwide since the condition was discovered in 2000. However, the condition may be underdiagnosed because some affected individuals never experience symptoms.

What genes are related to short QT syndrome?

Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome.

Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases.

Related Gene(s)

Changes in these genes are associated with short QT syndrome.

  • KCNH2
  • KCNJ2
  • KCNQ1

How do people inherit short QT syndrome?

Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT syndrome are classified as sporadic and occur in people with no apparent family history of related heart problems.

Where can I find information about diagnosis or management of short QT syndrome?

These resources address the diagnosis or management of short QT syndrome and may include treatment providers.

  • Genetic Testing Registry: short QT syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2348199)
  • Genetic Testing Registry: Short QT syndrome 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865020)
  • Genetic Testing Registry: Short QT syndrome 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865019)
  • Genetic Testing Registry: Short QT syndrome 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865018)
  • MedlinePlus Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)

You might also find information on the diagnosis or management of short QT syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/short-qt-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/short-qt-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about short QT syndrome?

You may find the following resources about short QT syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for short QT syndrome?

  • SQTS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about short QT syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding short QT syndrome?

arrhythmia ; atrial ; atrial fibrillation ; autosomal ; autosomal dominant ; cardiac ; cardiac arrest ; cell ; fainting ; family history ; fibrillation ; gene ; inheritance ; ions ; ion transport ; muscle cells ; mutation ; pattern of inheritance ; potassium ; sporadic ; syncope ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bjerregaard P, Gussak I. Short QT syndrome. Ann Noninvasive Electrocardiol. 2005 Oct;10(4):436-40. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16255754?dopt=Abstract)
  • Borggrefe M, Wolpert C, Antzelevitch C, Veltmann C, Giustetto C, Gaita F, Schimpf R. Short QT syndrome. Genotype-phenotype correlations. J Electrocardiol. 2005 Oct;38(4 Suppl):75-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16226079?dopt=Abstract)
  • Brugada R, Hong K, Cordeiro JM, Dumaine R. Short QT syndrome. CMAJ. 2005 Nov 22;173(11):1349-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16301704?dopt=Abstract)
  • Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M. Short QT Syndrome: a familial cause of sudden death. Circulation. 2003 Aug 26;108(8):965-70. Epub 2003 Aug 18. (http://www.ncbi.nlm.nih.gov/pubmed/12925462?dopt=Abstract)
  • Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Dalmasso P, Borggrefe M, Gaita F. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011 Aug 2;58(6):587-95. doi: 10.1016/j.jacc.2011.03.038. (http://www.ncbi.nlm.nih.gov/pubmed/21798421?dopt=Abstract)
  • Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12. doi: 10.1016/j.jacc.2010.09.048. (http://www.ncbi.nlm.nih.gov/pubmed/21310316?dopt=Abstract)
  • Gussak I, Bjerregaard P. Short QT syndrome--5 years of progress. J Electrocardiol. 2005 Oct;38(4):375-7. (http://www.ncbi.nlm.nih.gov/pubmed/16216616?dopt=Abstract)
  • Maluli HA, Meshkov AB. A short story of the short QT syndrome. Cleve Clin J Med. 2013 Jan;80(1):41-7. doi: 10.3949/ccjm.80a.12029. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23288944?dopt=Abstract)
  • Patel U, Pavri BB. Short QT syndrome: a review. Cardiol Rev. 2009 Nov-Dec;17(6):300-3. doi: 10.1097/CRD.0b013e3181c07592. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19829181?dopt=Abstract)
  • Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M. Short QT syndrome. Cardiovasc Res. 2005 Aug 15;67(3):357-66. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15890322?dopt=Abstract)
  • Wolpert C, Schimpf R, Veltmann C, Giustetto C, Gaita F, Borggrefe M. Clinical characteristics and treatment of short QT syndrome. Expert Rev Cardiovasc Ther. 2005 Jul;3(4):611-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16076272?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2013
Published: December 16, 2014