Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

L Crotti; C Spazzolini; M Nyegaard; MT Overgaard; MC Kotta; F Dagradi; L Sala; T Aiba; MD Ayers; A Baban; J Barc; CM Beach; ER Behr; JM Bos; M Cerrone; P Covi; B Cuneo; I Denjoy; B Donner; A Elbert; H Eliasson; SP Etheridge; M Fukuyama; F Girolami; R Hamilton; M Horie; M Iascone; JJ Jaimez; HK Jensen; PJ Kannankeril; JP Kaski; N Makita; C Munoz-Esparza; HH Odland; S Ohno; J Papagiannis; AP Porretta; C Prandstetter; V Probst; T Robyns; E Rosenthal; F Roses-Noguer; N Sekarski; A Singh; G Spentzou; F Stute; J Tfelt-Hansen; J Till; KE Tobert; JM Vinocur; G Webster; AAM Wilde; CM Wolf; MJ Ackerman; PJ Schwartz

doi:10.1093/eurheartj/ehad418

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

L Crotti
, C Spazzolini
, M Nyegaard
, MT Overgaard
, MC Kotta
, F Dagradi
, L Sala
, T Aiba
, MD Ayers
, A Baban
, J Barc
, CM Beach
, ER Behr
, JM Bos
, M Cerrone
, P Covi
, B Cuneo
, I Denjoy
, B Donner
, A Elbert

H Eliasson, SP Etheridge, M Fukuyama, F Girolami, R Hamilton, M Horie, M Iascone, JJ Jaimez, HK Jensen, PJ Kannankeril, JP Kaski, N Makita, C Munoz-Esparza, HH Odland, S Ohno, J Papagiannis, AP Porretta, C Prandstetter, V Probst, T Robyns, E Rosenthal, F Roses-Noguer, N Sekarski, A Singh, G Spentzou, F Stute, J Tfelt-Hansen, J Till, KE Tobert, JM Vinocur, G Webster, AAM Wilde, CM Wolf, MJ Ackerman, PJ Schwartz

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

55 Citations (Web of Science)

Original language	English
Pages (from-to)	3357-3370
Number of pages	14
Journal	EUROPEAN HEART JOURNAL
Volume	44
Issue number	35
DOIs	https://doi.org/10.1093/eurheartj/ehad418
Publication status	Published - 14 Sept 2023

Keywords

LONG-QT SYNDROME
CALCIUM-CHANNEL
HYPERTROPHIC CARDIOMYOPATHY
ARRHYTHMIA
Tachycardia, Ventricular/diagnosis
Long QT Syndrome/diagnosis
Mutation/genetics
Humans
Registries
Death, Sudden, Cardiac/etiology
Calmodulin/genetics
Child

Access to Document

10.1093/eurheartj/ehad418

Cite this

Crotti, L., Spazzolini, C., Nyegaard, M., Overgaard, MT., Kotta, MC., Dagradi, F., Sala, L., Aiba, T., Ayers, MD., Baban, A., Barc, J., Beach, CM., Behr, ER., Bos, JM., Cerrone, M., Covi, P., Cuneo, B., Denjoy, I., Donner, B., ... Schwartz, PJ. (2023). Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. EUROPEAN HEART JOURNAL , 44(35), 3357-3370. https://doi.org/10.1093/eurheartj/ehad418

Crotti, L ; Spazzolini, C ; Nyegaard, M et al. / Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. In: EUROPEAN HEART JOURNAL 2023 ; Vol. 44, No. 35. pp. 3357-3370.

@article{ccd2e0fb1f9441d2b5f24ecb95dc6e64,

title = "Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry",

keywords = "LONG-QT SYNDROME, CALCIUM-CHANNEL, HYPERTROPHIC CARDIOMYOPATHY, ARRHYTHMIA, Tachycardia, Ventricular/diagnosis, Long QT Syndrome/diagnosis, Mutation/genetics, Humans, Registries, Death, Sudden, Cardiac/etiology, Calmodulin/genetics, Child",

author = "L Crotti and C Spazzolini and M Nyegaard and MT Overgaard and MC Kotta and F Dagradi and L Sala and T Aiba and MD Ayers and A Baban and J Barc and CM Beach and ER Behr and JM Bos and M Cerrone and P Covi and B Cuneo and I Denjoy and B Donner and A Elbert and H Eliasson and SP Etheridge and M Fukuyama and F Girolami and R Hamilton and M Horie and M Iascone and JJ Jaimez and HK Jensen and PJ Kannankeril and JP Kaski and N Makita and C Munoz-Esparza and HH Odland and S Ohno and J Papagiannis and AP Porretta and C Prandstetter and V Probst and T Robyns and E Rosenthal and F Roses-Noguer and N Sekarski and A Singh and G Spentzou and F Stute and J Tfelt-Hansen and J Till and KE Tobert and JM Vinocur and G Webster and AAM Wilde and CM Wolf and MJ Ackerman and PJ Schwartz",

note = "Covi: Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria;",

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language = "English",

volume = "44",

pages = "3357--3370",

journal = "EUROPEAN HEART JOURNAL ",

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}

Crotti, L, Spazzolini, C, Nyegaard, M, Overgaard, MT, Kotta, MC, Dagradi, F, Sala, L, Aiba, T, Ayers, MD, Baban, A, Barc, J, Beach, CM, Behr, ER, Bos, JM, Cerrone, M, Covi, P, Cuneo, B, Denjoy, I, Donner, B, Elbert, A, Eliasson, H, Etheridge, SP, Fukuyama, M, Girolami, F, Hamilton, R, Horie, M, Iascone, M, Jaimez, JJ, Jensen, HK, Kannankeril, PJ, Kaski, JP, Makita, N, Munoz-Esparza, C, Odland, HH, Ohno, S, Papagiannis, J, Porretta, AP, Prandstetter, C, Probst, V, Robyns, T, Rosenthal, E, Roses-Noguer, F, Sekarski, N, Singh, A, Spentzou, G, Stute, F, Tfelt-Hansen, J, Till, J, Tobert, KE, Vinocur, JM, Webster, G, Wilde, AAM, Wolf, CM, Ackerman, MJ & Schwartz, PJ 2023, 'Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry', EUROPEAN HEART JOURNAL , vol. 44, no. 35, pp. 3357-3370. https://doi.org/10.1093/eurheartj/ehad418

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. / Crotti, L; Spazzolini, C; Nyegaard, M et al.
In: EUROPEAN HEART JOURNAL , Vol. 44, No. 35, 14.09.2023, p. 3357-3370.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

AU - Crotti, L

AU - Spazzolini, C

AU - Nyegaard, M

AU - Overgaard, MT

AU - Kotta, MC

AU - Dagradi, F

AU - Sala, L

AU - Aiba, T

AU - Ayers, MD

AU - Baban, A

AU - Barc, J

AU - Beach, CM

AU - Behr, ER

AU - Bos, JM

AU - Cerrone, M

AU - Covi, P

AU - Cuneo, B

AU - Denjoy, I

AU - Donner, B

AU - Elbert, A

AU - Eliasson, H

AU - Etheridge, SP

AU - Fukuyama, M

AU - Girolami, F

AU - Hamilton, R

AU - Horie, M

AU - Iascone, M

AU - Jaimez, JJ

AU - Jensen, HK

AU - Kannankeril, PJ

AU - Kaski, JP

AU - Makita, N

AU - Munoz-Esparza, C

AU - Odland, HH

AU - Ohno, S

AU - Papagiannis, J

AU - Porretta, AP

AU - Prandstetter, C

AU - Probst, V

AU - Robyns, T

AU - Rosenthal, E

AU - Roses-Noguer, F

AU - Sekarski, N

AU - Singh, A

AU - Spentzou, G

AU - Stute, F

AU - Tfelt-Hansen, J

AU - Till, J

AU - Tobert, KE

AU - Vinocur, JM

AU - Webster, G

AU - Wilde, AAM

AU - Wolf, CM

AU - Ackerman, MJ

AU - Schwartz, PJ

N1 - Covi: Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria;

PY - 2023/9/14

Y1 - 2023/9/14

KW - LONG-QT SYNDROME

KW - CALCIUM-CHANNEL

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - ARRHYTHMIA

KW - Tachycardia, Ventricular/diagnosis

KW - Long QT Syndrome/diagnosis

KW - Mutation/genetics

KW - Humans

KW - Registries

KW - Death, Sudden, Cardiac/etiology

KW - Calmodulin/genetics

KW - Child

U2 - 10.1093/eurheartj/ehad418

DO - 10.1093/eurheartj/ehad418

M3 - Original Article

C2 - 37528649

SN - 0195-668X

VL - 44

SP - 3357

EP - 3370

JO - EUROPEAN HEART JOURNAL

JF - EUROPEAN HEART JOURNAL

IS - 35

ER -

Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F et al. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. EUROPEAN HEART JOURNAL . 2023 Sept 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418