Preferred Label : Sick sinus syndrome 1;
Symbol : SSS1;
CISMeF acronym : SSS1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Sinus rhythm, congenital absence of; Sinus bradycardia syndrome, familial; Sinus node disease, familial, autosomal recessive; Sick sinus syndrome, congenital;
Description : The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus
node dysfunction. The most common clinical manifestations are syncope, presyncope,
dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus
arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus
bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder.
SSS occurs most often in the elderly associated with underlying heart disease or previous
cardiac surgery, but can also occur in the fetus, infant, or child without heart disease
or other contributing factors, in which case it is considered to be a congenital disorder
(Benson et al., 2003). - Genetic Heterogeneity In addition to the familial autosomal
recessive form (SSS1), an autosomal dominant form of sick sinus syndrome (SSS2; 163800)
is caused by mutation in the HCN4 gene (605206). Susceptibility to sick sinus syndrome
(SSS3; 614090) is influenced by variation in the MYH6 gene (160710).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide
gene (SCN5A, 600163.0025);
Prefixed ID : #608567;
Origin ID : 608567;
UMLS CUI : C1837845;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)