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Sick sinus syndrome 3, susceptibility to(SSS3)

MedGen UID:
481421
Concept ID:
C3279791
Finding
Synonym: SSS3
 
Gene (location): MYH6 (14q11.2)
 
Monarch Initiative: MONDO:0013568
OMIM®: 614090

Definition

Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by Holm et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 (608567). [from OMIM]

Additional description

From MedlinePlus Genetics
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart.

Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems.

Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.  https://medlineplus.gov/genetics/condition/sick-sinus-syndrome

Clinical features

From HPO
Sick sinus syndrome
MedGen UID:
20749
Concept ID:
C0037052
Disease or Syndrome
An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.

Professional guidelines

PubMed

Celestino-Soper PB, Doytchinova A, Steiner HA, Uradu A, Lynnes TC, Groh WJ, Miller JM, Lin H, Gao H, Wang Z, Liu Y, Chen PS, Vatta M
PLoS One 2015;10(12):e0143588. Epub 2015 Dec 4 doi: 10.1371/journal.pone.0143588. PMID: 26636822Free PMC Article

Recent clinical studies

Etiology

Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E, Pushkareva A, Plechev V, Sagitov I, Zagidullin N
Mol Biol Rep 2021 Jun;48(6):5355-5362. Epub 2021 Jun 30 doi: 10.1007/s11033-021-06517-4. PMID: 34195885
Semis M, Dadwal SS, Tegtmeier BR, Wilczynski SP, Ito JI, Kalkum M
Clin Infect Dis 2021 Apr 26;72(8):1386-1391. doi: 10.1093/cid/ciaa231. PMID: 32155243
Yuyun MF, Squire IB, Ng GA, Samani NJ
Heart 2018 Aug;104(16):1350-1355. Epub 2018 Feb 20 doi: 10.1136/heartjnl-2017-312374. PMID: 29463611
Yagihara N, Watanabe H, Barnett P, Duboscq-Bidot L, Thomas AC, Yang P, Ohno S, Hasegawa K, Kuwano R, Chatel S, Redon R, Schott JJ, Probst V, Koopmann TT, Bezzina CR, Wilde AA, Nakano Y, Aiba T, Miyamoto Y, Kamakura S, Darbar D, Donahue BS, Shigemizu D, Tanaka T, Tsunoda T, Suda M, Sato A, Minamino T, Endo N, Shimizu W, Horie M, Roden DM, Makita N
J Am Heart Assoc 2016 Sep 13;5(9) doi: 10.1161/JAHA.116.003644. PMID: 27625342Free PMC Article
Ruan Y, Liu N, Priori SG
Nat Rev Cardiol 2009 May;6(5):337-48. doi: 10.1038/nrcardio.2009.44. PMID: 19377496

Diagnosis

Sathnur N, Ebin E, Benditt DG
Cardiol Clin 2023 Aug;41(3):349-367. doi: 10.1016/j.ccl.2023.03.013. PMID: 37321686
Semis M, Dadwal SS, Tegtmeier BR, Wilczynski SP, Ito JI, Kalkum M
Clin Infect Dis 2021 Apr 26;72(8):1386-1391. doi: 10.1093/cid/ciaa231. PMID: 32155243
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Yuyun MF, Squire IB, Ng GA, Samani NJ
Heart 2018 Aug;104(16):1350-1355. Epub 2018 Feb 20 doi: 10.1136/heartjnl-2017-312374. PMID: 29463611
Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N
Circ Arrhythm Electrophysiol 2014 Jun;7(3):511-7. Epub 2014 Apr 24 doi: 10.1161/CIRCEP.113.001340. PMID: 24762805

Therapy

Chen J, Makiyama T, Wuriyanghai Y, Ohno S, Sasaki K, Hayano M, Harita T, Nishiuchi S, Yuta Yamamoto, Ueyama T, Shimizu A, Horie M, Kimura T
Heart Rhythm 2016 Jan;13(1):289-98. Epub 2015 Aug 14 doi: 10.1016/j.hrthm.2015.08.021. PMID: 26282245
Ruiter JH, Barrett MJ, Weteling L, Jansen R
Pacing Clin Electrophysiol 2004 Mar;27(3):405-7. doi: 10.1111/j.1540-8159.2004.00452.x. PMID: 15009874

Prognosis

Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E, Pushkareva A, Plechev V, Sagitov I, Zagidullin N
Mol Biol Rep 2021 Jun;48(6):5355-5362. Epub 2021 Jun 30 doi: 10.1007/s11033-021-06517-4. PMID: 34195885
Yuyun MF, Squire IB, Ng GA, Samani NJ
Heart 2018 Aug;104(16):1350-1355. Epub 2018 Feb 20 doi: 10.1136/heartjnl-2017-312374. PMID: 29463611
Zhu J, Zhang X, Shi G, Yi K, Tan X
PLoS One 2015;10(7):e0131782. Epub 2015 Jul 23 doi: 10.1371/journal.pone.0131782. PMID: 26204447Free PMC Article
Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N
Circ Arrhythm Electrophysiol 2015 Apr;8(2):400-8. Epub 2015 Feb 25 doi: 10.1161/CIRCEP.114.002534. PMID: 25717017
Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N
Circ Arrhythm Electrophysiol 2014 Jun;7(3):511-7. Epub 2014 Apr 24 doi: 10.1161/CIRCEP.113.001340. PMID: 24762805

Clinical prediction guides

Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E, Pushkareva A, Plechev V, Sagitov I, Zagidullin N
Mol Biol Rep 2021 Jun;48(6):5355-5362. Epub 2021 Jun 30 doi: 10.1007/s11033-021-06517-4. PMID: 34195885
Semis M, Dadwal SS, Tegtmeier BR, Wilczynski SP, Ito JI, Kalkum M
Clin Infect Dis 2021 Apr 26;72(8):1386-1391. doi: 10.1093/cid/ciaa231. PMID: 32155243
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Yuyun MF, Squire IB, Ng GA, Samani NJ
Heart 2018 Aug;104(16):1350-1355. Epub 2018 Feb 20 doi: 10.1136/heartjnl-2017-312374. PMID: 29463611
Zhu J, Zhang X, Shi G, Yi K, Tan X
PLoS One 2015;10(7):e0131782. Epub 2015 Jul 23 doi: 10.1371/journal.pone.0131782. PMID: 26204447Free PMC Article

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