Familial sick sinus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SSS
Familial sinus node dysfunction
Number of Symptoms 21
OrphanetNr: 166282
OMIM Id: 163800
608567
614090
ICD-10:
UMLs: C0037052
MeSH: D012804
MedDRA: 10040639
Snomed: 36083008

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: Autosomal recessive
Autosomal dominant
24762805 [IBIS]
Age of onset: Childhood
Adult
24020943 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Sick sinus syndrome (SSS) usually occurs in the elderly but is occasionally also seen in children (PMID:24020943). Most of the familial SSS cases exhibit autosomal dominant inheritance, but an autosomal recessive inheritance of compound heterozygous SCN5A mutations also exists (PMID:24762805).

Symptom Information: Sort by abundance 

1
 (HPO:0005150) Abnormal atrioventricular conduction Frequent [IBIS] 12725451 IBIS 16 / 7739
2
 (HPO:0011702) Abnormal electrophysiology of sinoatrial node origin Very frequent [IBIS] 23939447; 24762805 IBIS 4 / 7739
3
 (HPO:0011704) Sick sinus syndrome Very frequent [IBIS] 24020943 IBIS 6 / 7739
4
 (HPO:0001688) Sinus bradycardia Frequent [IBIS] 24020943 IBIS 18 / 7739
5
 (HPO:0001962) Palpitations 24020943 IBIS 62 / 7739
6
 (MedDRA:10068627) Chronotropic incompetence 23939447 IBIS 2 / 7739
7
 (HPO:0005115) Supraventricular arrhythmia 23939447 IBIS 13 / 7739
8
 (HPO:0004757) Paroxysmal atrial fibrillation Frequent [IBIS] 23939447 IBIS 16 / 7739
9
 (HPO:0004749) Atrial flutter Frequent [IBIS] 23939447 IBIS 20 / 7739
10
 (HPO:0004763) Paroxysmal supraventricular tachycardia Frequent [IBIS] 23939447 IBIS 10 / 7739
11
 (HPO:0006671) Paroxysmal atrial tachycardia Frequent [IBIS] 23939447 IBIS 4 / 7739
12
 (HPO:0001649) Tachycardia Frequent [IBIS] 24020943 IBIS 53 / 7739
13
 (HPO:0001678) Atrioventricular block 25947003 IBIS 59 / 7739
14
 (HPO:0001279) Syncope 24020943 IBIS 94 / 7739
15
 (HPO:0012378) Fatigue 24020943 IBIS 50 / 7739
16
 (HPO:0002329) Drowsiness 24020943 IBIS 19 / 7739
17
 (HPO:0001337) Tremor 24020943 IBIS 200 / 7739
18
 (HPO:0002315) Headache 24020943 IBIS 175 / 7739
19
 (HPO:0100749) Chest pain 24020943 IBIS 92 / 7739
20
 (HPO:0030148) Heart murmur 24020943 IBIS 29 / 7739
21
 (HPO:0012723) Sinoatrial block 12725451 IBIS 4 / 7739

Associated genes:

SCN5A; MYH6; HCN4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
HCN4 rs104894485 pathogenic RCV000005483.2
HCN4 rs104894488 pathogenic RCV000005481.2
HCN4 rs121908411 pathogenic RCV000005484.2
HCN4 rs794727637 likely pathogenic RCV000178241.1
SCN5A rs137854612 pathogenic RCV000009995.2
SCN5A rs137854613 pathogenic RCV000009968.2
SCN5A rs28937319 pathogenic RCV000058612.2
SCN5A rs28937319 pathogenic RCV000009994.2
SCN5A rs45620037 pathogenic RCV000009998.2

Additional Information: