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Short QT syndrome 7(SQT7)

MedGen UID:
1824077
Concept ID:
C5774304
Disease or Syndrome
Synonym: SQT7
 
Gene (location): SLC4A3 (2q35)
 
Monarch Initiative: MONDO:0859368
OMIM®: 620231

Definition

Short QT syndrome-7 (SQT7) is characterized by a corrected QT interval of 370 ms or less and a J-point to T-peak less than 140 ms. Affected individuals may experience cardiac arrest and/or ventricular fibrillation at rest, and sudden death may occur. Affected children and most females are asymptomatic (Thorsen et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). [from OMIM]

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).
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
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).

Professional guidelines

PubMed

Suzuki H, Horie M, Ozawa J, Sumitomo N, Ohno S, Hoshino K, Ehara E, Takahashi K, Maeda Y, Yoshinaga M, Tateno S, Takagi J, Doi S, Hoshina S, Sato I, Ishikawa T, Makita N, Chinushi M, Akazawa K, Nagashima M
Europace 2021 Dec 7;23(12):2029-2038. doi: 10.1093/europace/euab097. PMID: 34179980
Gollob MH, Redpath CJ, Roberts JD
J Am Coll Cardiol 2011 Feb 15;57(7):802-12. doi: 10.1016/j.jacc.2010.09.048. PMID: 21310316
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378

Recent clinical studies

Etiology

Sebastian SA, Panthangi V, Sethi Y, Padda I, Khan U, Affas ZR, Mareddy C, Dolack L, Johal G
Curr Probl Cardiol 2023 Dec;48(12):101990. Epub 2023 Jul 24 doi: 10.1016/j.cpcardiol.2023.101990. PMID: 37495059
Suzuki H, Horie M, Ozawa J, Sumitomo N, Ohno S, Hoshino K, Ehara E, Takahashi K, Maeda Y, Yoshinaga M, Tateno S, Takagi J, Doi S, Hoshina S, Sato I, Ishikawa T, Makita N, Chinushi M, Akazawa K, Nagashima M
Europace 2021 Dec 7;23(12):2029-2038. doi: 10.1093/europace/euab097. PMID: 34179980
El-Battrawy I, Besler J, Ansari U, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Odening K, Cyganek L, Wolpert C, Zhou X, Borggrefe M, Akin I
Clin Res Cardiol 2019 Oct;108(10):1140-1146. Epub 2019 Mar 16 doi: 10.1007/s00392-019-01449-3. PMID: 30879093
Malik M
Drug Saf 2016 Jul;39(7):647-59. doi: 10.1007/s40264-016-0411-3. PMID: 26968542
Shimizu W, Horie M
Circ Res 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600. PMID: 21700951

Diagnosis

Sebastian SA, Panthangi V, Sethi Y, Padda I, Khan U, Affas ZR, Mareddy C, Dolack L, Johal G
Curr Probl Cardiol 2023 Dec;48(12):101990. Epub 2023 Jul 24 doi: 10.1016/j.cpcardiol.2023.101990. PMID: 37495059
Suzuki H, Horie M, Ozawa J, Sumitomo N, Ohno S, Hoshino K, Ehara E, Takahashi K, Maeda Y, Yoshinaga M, Tateno S, Takagi J, Doi S, Hoshina S, Sato I, Ishikawa T, Makita N, Chinushi M, Akazawa K, Nagashima M
Europace 2021 Dec 7;23(12):2029-2038. doi: 10.1093/europace/euab097. PMID: 34179980
Napolitano C, Bloise R, Priori SG
J Cardiovasc Med (Hagerstown) 2006 Apr;7(4):250-6. doi: 10.2459/01.JCM.0000219317.12504.5f. PMID: 16645398
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378
Bjerregaard P, Gussak I
Ann Noninvasive Electrocardiol 2005 Oct;10(4):436-40. doi: 10.1111/j.1542-474X.2005.00064.x. PMID: 16255754Free PMC Article

Therapy

El-Battrawy I, Besler J, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Wolpert C, Zhou X, Akin I, Borggrefe M
J Am Heart Assoc 2018 Dec 4;7(23):e010073. doi: 10.1161/JAHA.118.010073. PMID: 30571592Free PMC Article
Malik M
Drug Saf 2016 Jul;39(7):647-59. doi: 10.1007/s40264-016-0411-3. PMID: 26968542
Tadros R, Cadrin-Tourigny J, Abadir S, Rivard L, Nattel S, Talajic M, Khairy P
Expert Rev Cardiovasc Ther 2015;13(7):769-82. Epub 2015 May 20 doi: 10.1586/14779072.2015.1049156. PMID: 25994014
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378
Bjerregaard P, Gussak I
Ann Noninvasive Electrocardiol 2005 Oct;10(4):436-40. doi: 10.1111/j.1542-474X.2005.00064.x. PMID: 16255754Free PMC Article

Prognosis

Kim DY, Uhm JS, Kim M, Kim IS, Jin MN, Yu HT, Kim TH, Kim JY, Joung B, Pak HN, Lee MH
BMC Cardiovasc Disord 2021 Jan 6;21(1):17. doi: 10.1186/s12872-020-01824-3. PMID: 33407155Free PMC Article
El-Battrawy I, Besler J, Ansari U, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Odening K, Cyganek L, Wolpert C, Zhou X, Borggrefe M, Akin I
Clin Res Cardiol 2019 Oct;108(10):1140-1146. Epub 2019 Mar 16 doi: 10.1007/s00392-019-01449-3. PMID: 30879093
El-Battrawy I, Besler J, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Wolpert C, Zhou X, Akin I, Borggrefe M
J Am Heart Assoc 2018 Dec 4;7(23):e010073. doi: 10.1161/JAHA.118.010073. PMID: 30571592Free PMC Article
Iribarren C, Round AD, Peng JA, Lu M, Klatsky AL, Zaroff JG, Holve TJ, Prasad A, Stang P
Ann Noninvasive Electrocardiol 2014 Sep;19(5):490-500. Epub 2014 May 14 doi: 10.1111/anec.12157. PMID: 24829126Free PMC Article
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378

Clinical prediction guides

Dhutia H, Malhotra A, Parpia S, Gabus V, Finocchiaro G, Mellor G, Merghani A, Millar L, Narain R, Sheikh N, Behr ER, Papadakis M, Sharma S
Br J Sports Med 2016 Jan;50(2):124-9. Epub 2015 Sep 23 doi: 10.1136/bjsports-2015-094827. PMID: 26400956
Refaat MM, Hotait M, London B
Curr Cardiol Rep 2015 Jul;17(7):606. doi: 10.1007/s11886-015-0606-8. PMID: 26026997
Villafañe J, Atallah J, Gollob MH, Maury P, Wolpert C, Gebauer R, Watanabe H, Horie M, Anttonen O, Kannankeril P, Faulknier B, Bleiz J, Makiyama T, Shimizu W, Hamilton RM, Young ML
J Am Coll Cardiol 2013 Mar 19;61(11):1183-91. Epub 2013 Jan 30 doi: 10.1016/j.jacc.2012.12.025. PMID: 23375927
Gollob MH, Redpath CJ, Roberts JD
J Am Coll Cardiol 2011 Feb 15;57(7):802-12. doi: 10.1016/j.jacc.2010.09.048. PMID: 21310316
Anttonen O, Junttila J, Giustetto C, Gaita F, Linna E, Karsikas M, Seppänen T, Perkiömäki JS, Mäkikallio TH, Brugada R, Huikuri HV
Ann Noninvasive Electrocardiol 2009 Jul;14(3):262-7. doi: 10.1111/j.1542-474X.2009.00308.x. PMID: 19614638Free PMC Article

Recent systematic reviews

Olde Nordkamp LR, Postema PG, Knops RE, van Dijk N, Limpens J, Wilde AA, de Groot JR
Heart Rhythm 2016 Feb;13(2):443-54. Epub 2015 Sep 15 doi: 10.1016/j.hrthm.2015.09.010. PMID: 26385533

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