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Atrial fibrillation, familial, 7(ATFB7)

MedGen UID:
393658
Concept ID:
C2677106
Disease or Syndrome
Synonyms: ATFB7; KCNA5-Related Familial Atrial Fibrillation
 
Gene (location): KCNA5 (12p13.32)
 
Monarch Initiative: MONDO:0012828
OMIM®: 612240

Definition

Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

Additional description

From MedlinePlus Genetics
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.  https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation

Clinical features

From HPO
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.
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
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.

Recent clinical studies

Etiology

Abdullaeva G, Abdullaev A, Kevorkov A, Abduvaliyeva G, Zakirov N, Kurbanov R
Turk Kardiyol Dern Ars 2021 Jul;49(5):404-409. doi: 10.5543/tkda.2021.08434. PMID: 34308874
Zhong Y, Tang K, Li H, Zhao D, Kou W, Xu S, Zhang J, Yang H, Li S, Guo R, Peng W, Xu Y
Circ J 2019 Sep 25;83(10):1994-2001. Epub 2019 Aug 10 doi: 10.1253/circj.CJ-19-0415. PMID: 31406021
Sanchis K, Cariou E, Colombat M, Ribes D, Huart A, Cintas P, Fournier P, Rollin A, Carrié D, Galinier M, Maury P, Duparc A, Lairez O; Toulouse Amyloidosis Research Network collaborators.
Amyloid 2019 Sep;26(3):128-138. Epub 2019 Jun 7 doi: 10.1080/13506129.2019.1620724. PMID: 31172799
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466

Diagnosis

Sanchis K, Cariou E, Colombat M, Ribes D, Huart A, Cintas P, Fournier P, Rollin A, Carrié D, Galinier M, Maury P, Duparc A, Lairez O; Toulouse Amyloidosis Research Network collaborators.
Amyloid 2019 Sep;26(3):128-138. Epub 2019 Jun 7 doi: 10.1080/13506129.2019.1620724. PMID: 31172799
Mints YY, Doros G, Berk JL, Connors LH, Ruberg FL
ESC Heart Fail 2018 Oct;5(5):772-779. Epub 2018 Jun 19 doi: 10.1002/ehf2.12308. PMID: 29916559Free PMC Article
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Jurkko R, Palojoki E, Huttunen H, Holm C, Lehto M, Heliö T, Swan H, Toivonen L
J Cardiovasc Electrophysiol 2013 Jul;24(7):768-74. Epub 2013 Mar 29 doi: 10.1111/jce.12127. PMID: 23551519

Therapy

Haeusler KG, Kirchhof P, Kunze C, Tütüncü S, Fiessler C, Malsch C, Olma MC, Jawad-Ul-Qamar M, Krämer M, Wachter R, Michalski D, Kraft A, Rizos T, Gröschel K, Thomalla G, Nabavi DG, Röther J, Laufs U, Veltkamp R, Heuschmann PU, Endres M; MonDAFIS Investigators.
Lancet Neurol 2021 Jun;20(6):426-436. doi: 10.1016/S1474-4422(21)00067-3. PMID: 34022169
Zhong Y, Tang K, Li H, Zhao D, Kou W, Xu S, Zhang J, Yang H, Li S, Guo R, Peng W, Xu Y
Circ J 2019 Sep 25;83(10):1994-2001. Epub 2019 Aug 10 doi: 10.1253/circj.CJ-19-0415. PMID: 31406021
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.
Heart 2017 May;103(9):672-678. Epub 2016 Oct 28 doi: 10.1136/heartjnl-2016-309672. PMID: 27794017
Clare GC, Margulescu AD, Leong FT
Heart 2013 Apr;99(7):508. Epub 2012 Dec 12 doi: 10.1136/heartjnl-2012-303171. PMID: 23236025

Prognosis

Abdullaeva G, Abdullaev A, Kevorkov A, Abduvaliyeva G, Zakirov N, Kurbanov R
Turk Kardiyol Dern Ars 2021 Jul;49(5):404-409. doi: 10.5543/tkda.2021.08434. PMID: 34308874
Zhong Y, Tang K, Li H, Zhao D, Kou W, Xu S, Zhang J, Yang H, Li S, Guo R, Peng W, Xu Y
Circ J 2019 Sep 25;83(10):1994-2001. Epub 2019 Aug 10 doi: 10.1253/circj.CJ-19-0415. PMID: 31406021
Sanchis K, Cariou E, Colombat M, Ribes D, Huart A, Cintas P, Fournier P, Rollin A, Carrié D, Galinier M, Maury P, Duparc A, Lairez O; Toulouse Amyloidosis Research Network collaborators.
Amyloid 2019 Sep;26(3):128-138. Epub 2019 Jun 7 doi: 10.1080/13506129.2019.1620724. PMID: 31172799
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466

Clinical prediction guides

Abdullaeva G, Abdullaev A, Kevorkov A, Abduvaliyeva G, Zakirov N, Kurbanov R
Turk Kardiyol Dern Ars 2021 Jul;49(5):404-409. doi: 10.5543/tkda.2021.08434. PMID: 34308874
Zhong Y, Tang K, Li H, Zhao D, Kou W, Xu S, Zhang J, Yang H, Li S, Guo R, Peng W, Xu Y
Circ J 2019 Sep 25;83(10):1994-2001. Epub 2019 Aug 10 doi: 10.1253/circj.CJ-19-0415. PMID: 31406021
Mints YY, Doros G, Berk JL, Connors LH, Ruberg FL
ESC Heart Fail 2018 Oct;5(5):772-779. Epub 2018 Jun 19 doi: 10.1002/ehf2.12308. PMID: 29916559Free PMC Article
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Jurkko R, Palojoki E, Huttunen H, Holm C, Lehto M, Heliö T, Swan H, Toivonen L
J Cardiovasc Electrophysiol 2013 Jul;24(7):768-74. Epub 2013 Mar 29 doi: 10.1111/jce.12127. PMID: 23551519

Recent systematic reviews

Lacy SC, Saint Croix GR, Porter K, Latib A, Beohar N
Catheter Cardiovasc Interv 2021 Dec 1;98(7):E1007-E1016. Epub 2021 Aug 12 doi: 10.1002/ccd.29911. PMID: 34383369
Reddin C, Judge C, Loughlin E, Murphy R, Costello M, Alvarez A, Ferguson J, Smyth A, Canavan M, O'Donnell MJ
Stroke 2021 Oct;52(10):3151-3162. Epub 2021 Jul 20 doi: 10.1161/STROKEAHA.120.033910. PMID: 34281383Free PMC Article
Nreu B, Dicembrini I, Tinti F, Sesti G, Mannucci E, Monami M
Nutr Metab Cardiovasc Dis 2020 Jun 25;30(7):1106-1114. Epub 2020 Mar 25 doi: 10.1016/j.numecd.2020.03.013. PMID: 32448716
Larsen RT, Gottliebsen CR, Wood KA, Risom SS
Eur J Cardiovasc Nurs 2020 Oct;19(7):564-579. Epub 2020 May 6 doi: 10.1177/1474515120919388. PMID: 32375493
Mints YY, Doros G, Berk JL, Connors LH, Ruberg FL
ESC Heart Fail 2018 Oct;5(5):772-779. Epub 2018 Jun 19 doi: 10.1002/ehf2.12308. PMID: 29916559Free PMC Article

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