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Andersen Tawil syndrome(LQT7)

MedGen UID:
327586
Concept ID:
C1563715
Disease or Syndrome
Synonyms: Andersen cardiodysrhythmic periodic paralysis; Andersen Syndrome; Long QT syndrome 7; LQT7; Periodic paralysis, potassium-sensitive cardiodysrhythmic type; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Andersen Tawil syndrome (422348008); Andersen cardiodysrhythmic periodic paralysis (422348008); Long QT syndrome 7 (422348008)
 
Gene: KCNJ2
Cytogenetic location: 17q24.3
OMIM®: 170390
Orphanet: ORPHA37553

Disease characteristics

Excerpted from the GeneReview: Andersen-Tawil Syndrome
Andersen-Tawil syndrome (referred to as ATS in this entry) is characterized by a triad of episodic flaccid muscle weakness (i.e., periodic paralysis), ventricular arrhythmias and prolonged QT interval, and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jeffrey M Statland  |  Rabi Tawil  |  Shannon L Venance   view full author information

Additional descriptions

From OMIM
Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).  http://www.omim.org/entry/170390
From GHR
Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). Two types of Andersen-Tawil syndrome are distinguished by their genetic causes. Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene. The remaining 40 percent of cases are designated as type 2; the cause of these cases is unknown.  http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome

Clinical features

Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Antegonial notching of mandible
MedGen UID:
334972
Concept ID:
C1844509
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Broad forehead
MedGen UID:
383676
Concept ID:
C1855408
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Short mandibular rami
MedGen UID:
355441
Concept ID:
C1865316
Finding
Prominent frontal sinuses
MedGen UID:
370654
Concept ID:
C1969404
Finding
Cleft palate
MedGen UID:
776579
Concept ID:
C2240378
Finding
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Thin upper lip vermilion
MedGen UID:
507078
Concept ID:
CN000212
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the Maxilla.
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Oligodontia
MedGen UID:
504552
Concept ID:
CN000637
Finding
A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Persistence of primary teeth
MedGen UID:
501011
Concept ID:
CN005520
Finding
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Periodic hypokalemic paresis
MedGen UID:
446895
Concept ID:
CN007159
Finding
Episodes of muscle weakness associated with reduced levels of potassium in the blood.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Antegonial notching of mandible
MedGen UID:
334972
Concept ID:
C1844509
Finding
Short metatarsal
MedGen UID:
334976
Concept ID:
C1844547
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Short mandibular rami
MedGen UID:
355441
Concept ID:
C1865316
Finding
Prominent frontal sinuses
MedGen UID:
370654
Concept ID:
C1969404
Finding
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the Maxilla.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Clinodactyly of the 5th toe
MedGen UID:
807914
Concept ID:
CN001685
Finding
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Slender long bone
MedGen UID:
505451
Concept ID:
CN002795
Finding
Reduced diameter of a long bone.
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A rapid or irregular heartbeat that a person can feel.
Bidirectional ventricular ectopy
MedGen UID:
370007
Concept ID:
C1969410
Finding
Syncope
MedGen UID:
504784
Concept ID:
CN001173
Finding
Syncope refers 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.
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Short metatarsal
MedGen UID:
334976
Concept ID:
C1844547
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Clinodactyly of the 5th toe
MedGen UID:
807914
Concept ID:
CN001685
Finding
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Recent clinical studies

Etiology

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP
Neurology 2014 Mar 25;82(12):1058-64. Epub 2014 Feb 26 doi: 10.1212/WNL.0000000000000239. [Epub ahead of print] PMID: 24574546
Marquis-Nicholson R, Prosser DO, Love JM, Zhang L, Hayes I, George AM, Crawford JR, Skinner JR, Love DR
Circ Cardiovasc Genet 2014 Feb;7(1):17-22. Epub 2014 Jan 6 doi: 10.1161/CIRCGENETICS.113.000415. [Epub ahead of print] PMID: 24395924
Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. [Epub ahead of print] PMID: 23867365
Subbiah RN, Gula LJ, Skanes AC, Krahn AD
J Cardiovasc Electrophysiol 2008 Sep;19(9):987-9. Epub 2008 Jun 28 doi: 10.1111/j.1540-8167.2008.01216.x. [Epub ahead of print] PMID: 18554214
Choi BO, Kim J, Suh BC, Yu JS, Sunwoo IN, Kim SJ, Kim GH, Chung KW
J Hum Genet 2007;52(3):280-3. Epub 2007 Jan 9 doi: 10.1007/s10038-006-0100-7. [Epub ahead of print] PMID: 17211524

Diagnosis

Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M
Curr Cardiol Rev 2014 Aug;10(3):222-8. PMID: 24827800Free PMC Article
Nguyen HL, Pieper GH, Wilders R
Int J Cardiol 2013 Dec 5;170(1):1-16. PMID: 24383070
Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P
Ann Noninvasive Electrocardiol 2013 Sep;18(5):471-8. doi: 10.1111/anec.12074. PMID: 24047492
Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. [Epub ahead of print] PMID: 23867365
Thakkar M, Biswas TK, Desle HB
J Assoc Physicians India 2012 Nov;60:56-8. PMID: 23767205

Therapy

Janson CM, Poelzing S, Shah MJ
Heart Rhythm 2014 Feb;11(2):318-20. Epub 2013 Nov 7 doi: 10.1016/j.hrthm.2013.11.003. [Epub ahead of print] PMID: 24211314
Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. [Epub ahead of print] PMID: 23867365
Kuramoto Y, Furukawa Y, Yamada T, Okuyama Y, Fukunami M
Am J Med Sci 2012 Sep;344(3):248-50. doi: 10.1097/MAJ.0b013e3182560209. PMID: 22739561
Seebohm G, Strutz-Seebohm N, Ursu ON, Preisig-Müller R, Zuzarte M, Hill EV, Kienitz MC, Bendahhou S, Fauler M, Tapken D, Decher N, Collins A, Jurkat-Rott K, Steinmeyer K, Lehmann-Horn F, Daut J, Tavaré JM, Pott L, Bloch W, Lang F
FASEB J 2012 Feb;26(2):513-22. Epub 2011 Oct 14 doi: 10.1096/fj.11-189126. [Epub ahead of print] PMID: 22002906
Barajas-Martinez H, Hu D, Ontiveros G, Caceres G, Desai M, Burashnikov E, Scaglione J, Antzelevitch C
Circ Cardiovasc Genet 2011 Feb;4(1):51-7. Epub 2010 Dec 10 doi: 10.1161/CIRCGENETICS.110.957696. [Epub ahead of print] PMID: 21148745Free PMC Article

Prognosis

Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P
Ann Noninvasive Electrocardiol 2013 Sep;18(5):471-8. doi: 10.1111/anec.12074. PMID: 24047492
Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. [Epub ahead of print] PMID: 23867365
Marrus SB, Cuculich PS, Wang W, Nerbonne JM
Channels (Austin) 2011 Nov-Dec;5(6):500-9. Epub 2011 Nov 1 doi: 10.4161/chan.5.6.18524. [Epub ahead of print] PMID: 22186697Free PMC Article
Kim JB, Chung KW
Pediatr Neurol 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010. PMID: 19931173
Ma D, Tang XD, Rogers TB, Welling PA
J Biol Chem 2007 Feb 23;282(8):5781-9. Epub 2006 Dec 13 doi: 10.1074/jbc.M608776200. [Epub ahead of print] PMID: 17166852

Clinical prediction guides

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP
Neurology 2014 Mar 25;82(12):1058-64. Epub 2014 Feb 26 doi: 10.1212/WNL.0000000000000239. [Epub ahead of print] PMID: 24574546
Marrus SB, Cuculich PS, Wang W, Nerbonne JM
Channels (Austin) 2011 Nov-Dec;5(6):500-9. Epub 2011 Nov 1 doi: 10.4161/chan.5.6.18524. [Epub ahead of print] PMID: 22186697Free PMC Article
Chan HF, Chen ML, Su JJ, Ko LC, Lin CH, Wu RM
J Hum Genet 2010 Mar;55(3):186-8. Epub 2010 Jan 29 doi: 10.1038/jhg.2010.2. [Epub ahead of print] PMID: 20111058
Kim JB, Chung KW
Pediatr Neurol 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010. PMID: 19931173
Tsuboi M, Antzelevitch C
Heart Rhythm 2006 Mar;3(3):328-35. doi: 10.1016/j.hrthm.2005.11.026. PMID: 16500306Free PMC Article

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