Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Electrocardiography
/ methods
Electrocardiography, Ambulatory
/ methods
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Infant
Myopathies, Structural, Congenital
/ complications
Propranolol
/ therapeutic use
Risk Assessment
Ryanodine Receptor Calcium Release Channel
/ genetics
Severity of Illness Index
Sick Sinus Syndrome
/ complications
Tachycardia, Ectopic Atrial
/ complications
Tachycardia, Supraventricular
/ complications
Treatment Outcome
Atrial tachycardia
Congenital myopathy
RYR1
Sinus node dysfunction
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
19 Dec 2019
19 Dec 2019
Historique:
received:
13
05
2019
accepted:
03
12
2019
entrez:
21
12
2019
pubmed:
21
12
2019
medline:
28
5
2020
Statut:
epublish
Résumé
Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable. A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200-210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm. Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy.
Sections du résumé
BACKGROUND
BACKGROUND
Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable.
CASE PRESENTATION
METHODS
A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200-210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm.
CONCLUSIONS
CONCLUSIONS
Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy.
Identifiants
pubmed: 31856875
doi: 10.1186/s13052-019-0756-1
pii: 10.1186/s13052-019-0756-1
pmc: PMC6921593
doi:
Substances chimiques
Ryanodine Receptor Calcium Release Channel
0
Propranolol
9Y8NXQ24VQ
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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