← Назад

Isolated atrial standstill

ORPHA:1344DiseaseAutosomal dominant, Not applicableAdult

Ассоциированные гены (2)

SCN5A
sodium voltage-gated channel alpha subunit 5
Disease-causing germline mutation(s) in
OMIM: 600163
NPPA
natriuretic peptide A
Disease-causing germline mutation(s) in
OMIM: 108780

Фенотипы (32)

Очень частый (80–99%)5
HP:0001962Palpitations
HP:0005155Ventricular escape rhythm
HP:0025478Atrial standstill
HP:0031546Cardiac conduction abnormality
HP:0031595Abnormal P wave
Частый (30–79%)11
HP:0001627Abnormal heart morphology
HP:0002094Dyspnea
HP:0003560Muscular dystrophy
HP:0011675Arrhythmia
HP:0011704Sick sinus syndrome
HP:0011712Right bundle branch block
HP:0012378Fatigue
HP:0012664Reduced left ventricular ejection fraction
HP:0030682Left ventricular noncompaction
HP:0030973Postexertional malaise
HP:0410174Increased troponin T level in blood
Периодический (5–29%)16
HP:0001260Dysarthria
HP:0001279Syncope
HP:0001371Flexion contracture
HP:0001635Congestive heart failure
HP:0001638Cardiomyopathy
HP:0001662Bradycardia
HP:0001907Thromboembolism
HP:0002018Nausea
HP:0002140Ischemic stroke
HP:0002301Hemiplegia
HP:0002315Headache
HP:0002321Vertigo
HP:0002381Aphasia
HP:0003202Skeletal muscle atrophy
HP:0004756Ventricular tachycardia
HP:0011707Mobitz I atrioventricular block

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы