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Long QT syndrome 11(LQT11)

MedGen UID:
437218
Concept ID:
C2678483
Disease or Syndrome
Synonym: LQT11
 
Gene (location): AKAP9 (7q21.2)
 
Monarch Initiative: MONDO:0012738
OMIM®: 611820

Definition

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). [from OMIM]

Clinical features

From HPO
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.
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.

Professional guidelines

PubMed

Conte G, Scherr D, Lenarczyk R, Gandjbachkh E, Boulé S, Spartalis MD, Behr ER, Wilde A, Potpara T
Europace 2020 Dec 23;22(12):1904-1910. doi: 10.1093/europace/euaa223. PMID: 33367591

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