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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
SNOMED CT: Andersen Tawil syndrome (422348008); Andersen cardiodysrhythmic periodic paralysis (422348008); Long QT syndrome 7 (422348008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KCNJ2 (17q24.3)
 
Monarch Initiative: MONDO:0008222
OMIM®: 170390
Orphanet: ORPHA37553

Definition

Andersen-Tawil syndrome (ATS) 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]

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 MedlinePlus Genetics
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.

In people with Andersen-Tawil syndrome, the most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers (the ventricles), 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. The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death.

Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities (such as crowded teeth), low-set ears, widely spaced eyes, fusion (syndactyly) of the second and third toes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal side-to-side curvature of the spine (scoliosis).

The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. About 60 percent of affected individuals have all three major features (periodic paralysis, cardiac arrhythmia, and physical abnormalities).  https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Small finger
MedGen UID:
659456
Concept ID:
C0575827
Finding
Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Clinodactyly of the 5th toe
MedGen UID:
871256
Concept ID:
C4025741
Anatomical Abnormality
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
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.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
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.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
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.
Prominent U wave
MedGen UID:
369497
Concept ID:
C1969408
Finding
Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.
Bidirectional ventricular ectopy
MedGen UID:
370007
Concept ID:
C1969410
Finding
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
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.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Periodic hypokalemic paresis
MedGen UID:
867195
Concept ID:
C4021553
Disease or Syndrome
Episodes of muscle weakness associated with reduced levels of potassium in the blood.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
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.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
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:
331446
Concept ID:
C1833144
Finding
Reduced diameter of a long bone.
Short mandibular rami
MedGen UID:
331097
Concept ID:
C1841648
Finding
Antegonial notching of mandible
MedGen UID:
334972
Concept ID:
C1844509
Finding
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Prominent frontal sinuses
MedGen UID:
370654
Concept ID:
C1969404
Finding
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
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).
Persistence of primary teeth
MedGen UID:
75597
Concept ID:
C0266050
Disease or Syndrome
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
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).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
Preauricular pit
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAndersen Tawil syndrome
Follow this link to review classifications for Andersen Tawil syndrome in Orphanet.

Professional guidelines

PubMed

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M
Curr Cardiol Rev 2014 Aug;10(3):222-8. doi: 10.2174/1573403x10666140514102528. PMID: 24827800Free PMC Article
Sansone V, Tawil R
Neurotherapeutics 2007 Apr;4(2):233-7. doi: 10.1016/j.nurt.2007.01.005. PMID: 17395133

Recent clinical studies

Etiology

Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S
Eur J Neurol 2022 Aug;29(8):2398-2411. Epub 2022 May 4 doi: 10.1111/ene.15369. PMID: 35460302
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E
Brain 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. PMID: 34919635
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Krych M, Ponińska J, Bilińska ZT, Płoski R, Biernacka EK
Ann Noninvasive Electrocardiol 2019 May;24(3):e12624. Epub 2019 Jan 23 doi: 10.1111/anec.12624. PMID: 30672637Free PMC Article
Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596

Diagnosis

Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E
Brain 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. PMID: 34919635
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Nguyen HL, Pieper GH, Wilders R
Int J Cardiol 2013 Dec 5;170(1):1-16. doi: 10.1016/j.ijcard.2013.10.010. PMID: 24383070

Therapy

Keegan R, Onetto L, Gregorietti F, Urruti R, Di Biase L
J Interv Card Electrophysiol 2023 Apr;66(3):729-736. Epub 2021 Oct 19 doi: 10.1007/s10840-021-01077-w. PMID: 34665385
Almarzuqi A, Kimber S, Quadros K, Senaratne J
Vasc Health Risk Manag 2022;18:397-406. Epub 2022 Jun 7 doi: 10.2147/VHRM.S274857. PMID: 35698640Free PMC Article
Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG
J Am Coll Cardiol 2020 Apr 21;75(15):1772-1784. doi: 10.1016/j.jacc.2020.02.033. PMID: 32299589
Maffè S, Paffoni P, Bergamasco L, Dellavesa P, Zenone F, Baduena L, Franchetti Pardo N, Careri G, Facchini E, Sansone V, Parravicini U
J Electrocardiol 2020 Jan-Feb;58:37-42. Epub 2019 Nov 1 doi: 10.1016/j.jelectrocard.2019.10.009. PMID: 31710873
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article

Prognosis

Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S
Eur J Neurol 2022 Aug;29(8):2398-2411. Epub 2022 May 4 doi: 10.1111/ene.15369. PMID: 35460302
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E
Brain 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. PMID: 34919635
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG
J Am Coll Cardiol 2020 Apr 21;75(15):1772-1784. doi: 10.1016/j.jacc.2020.02.033. PMID: 32299589

Clinical prediction guides

Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S
Eur J Neurol 2022 Aug;29(8):2398-2411. Epub 2022 May 4 doi: 10.1111/ene.15369. PMID: 35460302
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E
Brain 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. PMID: 34919635
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG
J Am Coll Cardiol 2020 Apr 21;75(15):1772-1784. doi: 10.1016/j.jacc.2020.02.033. PMID: 32299589

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