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Long QT syndrome 16(LQT16)

MedGen UID:
1713991
Concept ID:
C5394068
Disease or Syndrome
Synonyms: LONG QT SYNDROME 16; LQT16
 
Gene (location): CALM3 (19q13.32)
 
Monarch Initiative: MONDO:0032915
OMIM®: 618782

Definition

LQT16 Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (Reed et al., 2015; Wren et al., 2019). Patients with LQT14 (616247), LQT15 (616249), or LQT16, resulting from mutation in calmodulin genes CALM1 (114180), CALM2 (114182), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). CPVT6 Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (Gomez-Hurtado et al., 2016). [from OMIM]

Clinical features

From HPO
Second degree atrioventricular block
MedGen UID:
75546
Concept ID:
C0264906
Disease or Syndrome
An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.
Perimembranous ventricular septal defect
MedGen UID:
87490
Concept ID:
C0344925
Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
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.
T-wave alternans
MedGen UID:
745313
Concept ID:
C1998313
Finding
A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.
Patent ductus arteriosus after birth at term
MedGen UID:
868839
Concept ID:
C4023249
Congenital Abnormality
Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.

Professional guidelines

PubMed

Albertini L, Ezekian J, Care M, Silversides C, Sermer M, Gollob MH, Spears D
J Am Heart Assoc 2023 Dec 5;12(23):e029407. Epub 2023 Nov 28 doi: 10.1161/JAHA.122.029407. PMID: 38014677Free PMC Article
Barsheshet A, Dotsenko O, Goldenberg I
Paediatr Drugs 2014 Dec;16(6):447-56. doi: 10.1007/s40272-014-0090-4. PMID: 25288402
Tester DJ, Will ML, Haglund CM, Ackerman MJ
Heart Rhythm 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020. PMID: 15840476

Recent clinical studies

Etiology

Sharma N, Cortez D, Disori K, Imundo JR, Beck M
Hosp Pediatr 2020 Apr;10(4):369-375. Epub 2020 Mar 6 doi: 10.1542/hpeds.2019-0139. PMID: 32144177
MacIntyre CJ, Rohatgi RK, Sugrue AM, Bos JM, Ackerman MJ
Heart Rhythm 2020 Jul;17(7):1147-1150. Epub 2020 Feb 24 doi: 10.1016/j.hrthm.2020.02.017. PMID: 32105774
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Hanisch D
J Pediatr Nurs 2001 Oct;16(5):351-62. doi: 10.1053/jpdn.2001.26571. PMID: 11598867

Diagnosis

Bains S, Neves R, Bos JM, Giudicessi JR, MacIntyre C, Ackerman MJ
J Am Coll Cardiol 2023 Feb 7;81(5):477-486. doi: 10.1016/j.jacc.2022.11.036. PMID: 36725176
Asai T, Adachi N, Moriya T, Oki H, Maru T, Kawasaki M, Suzuki K, Chen S, Ishii R, Yonemori K, Igaki S, Yasuda S, Ogasawara S, Senda T, Murata T
Structure 2021 Mar 4;29(3):203-212.e4. Epub 2021 Jan 14 doi: 10.1016/j.str.2020.12.007. PMID: 33450182
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Tester DJ, Will ML, Haglund CM, Ackerman MJ
Heart Rhythm 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020. PMID: 15840476

Therapy

Righi D, Porco L, Di Mambro C, Gnazzo M, Baban A, Paglia S, Silvetti MS, Novelli A, Tozzi AE, Drago F
Pediatr Cardiol 2023 Dec;44(8):1736-1740. Epub 2023 Aug 19 doi: 10.1007/s00246-023-03266-y. PMID: 37597120
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Moss AJ
JAMA 2003 Apr 23-30;289(16):2041-4. doi: 10.1001/jama.289.16.2041. PMID: 12709446
Priori SG, Bloise R, Crotti L
Europace 2001 Jan;3(1):16-27. doi: 10.1053/eupc.2000.0141. PMID: 11271945
Roden DM
Clin Cardiol 1993 Sep;16(9):683-6. doi: 10.1002/clc.4960160910. PMID: 7902224

Prognosis

Lee W, Vandenberk B, Raj SR, Lee SS
Gut Liver 2022 Nov 15;16(6):849-860. Epub 2022 Jul 22 doi: 10.5009/gnl210537. PMID: 35864808Free PMC Article
Lee S, Zhou J, Jeevaratnam K, Wong WT, Wong ICK, Mak C, Mok NS, Liu T, Zhang Q, Tse G
Open Heart 2021 Sep;8(2) doi: 10.1136/openhrt-2021-001671. PMID: 34518285Free PMC Article
Sharma N, Cortez D, Disori K, Imundo JR, Beck M
Hosp Pediatr 2020 Apr;10(4):369-375. Epub 2020 Mar 6 doi: 10.1542/hpeds.2019-0139. PMID: 32144177
MacIntyre CJ, Rohatgi RK, Sugrue AM, Bos JM, Ackerman MJ
Heart Rhythm 2020 Jul;17(7):1147-1150. Epub 2020 Feb 24 doi: 10.1016/j.hrthm.2020.02.017. PMID: 32105774
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article

Clinical prediction guides

MacIntyre CJ, Rohatgi RK, Sugrue AM, Bos JM, Ackerman MJ
Heart Rhythm 2020 Jul;17(7):1147-1150. Epub 2020 Feb 24 doi: 10.1016/j.hrthm.2020.02.017. PMID: 32105774
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Tester DJ, Will ML, Haglund CM, Ackerman MJ
Heart Rhythm 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020. PMID: 15840476
Brucato A, Cimaz R, Stramba-Badiale M
Clin Rev Allergy Immunol 2002 Dec;23(3):279-99. doi: 10.1385/CRIAI:23:3:279. PMID: 12402413

Recent systematic reviews

Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C
Heart Rhythm 2022 Nov;19(11):1826-1833. Epub 2022 Oct 11 doi: 10.1016/j.hrthm.2022.08.003. PMID: 37850595
Yang Y, Lv TT, Li SY, Liu P, Gao QG, Zhang P
J Am Heart Assoc 2022 Jul 19;11(14):e025246. Epub 2022 Jul 8 doi: 10.1161/JAHA.122.025246. PMID: 35861842Free PMC Article
Zhang N, Gong M, Tse G, Zhang Z, Meng L, Yan BP, Zhang L, Wu G, Xia Y, Xin-Yan G, Li G, Liu T
Pacing Clin Electrophysiol 2018 Mar;41(3):321-327. Epub 2018 Feb 16 doi: 10.1111/pace.13292. PMID: 29380395
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Duran-Cambra A, Sutil-Vega M, Fiol M, Núñez-Gil IJ, Vila M, Sans-Roselló J, Cinca J, Sionis A
Ann Noninvasive Electrocardiol 2015 Jan;20(1):1-6. Epub 2014 Nov 4 doi: 10.1111/anec.12228. PMID: 25367822Free PMC Article

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