Hereditary sick sinus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult, Elderly
- Status
- active
A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sick sinus syndrome | |
| fr | Maladie rythmique auriculaire héréditaire | Maladie rythmique de l'oreillette, forme héréditaire |
| de | Sick-Sinus-Syndrom, familiäres | Sinusknotensyndrom, hereditäres |
| es | Síndrome hereditario del seno enfermo | |
| it | Sindrome familiare del seno malato | Disfunzione familiare del seno malato |
| nl | Hereditair sick sinus-syndroom | |
| pt | Síndrome do nodo sinusal doente hereditária | |
| pl | Zespół chorej zatoki | Dysfunkcja węzła zatokowego |
| cs | Familiární "sick sinus" syndrom | Dědičná dysfunkce sinusového uzlu |
| uk | Сімейний синдром слабкості синусового вузла | |
| zh | 家族性病态窦房结综合征 | |
| tr | ailesel hasta sinüs sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 163800 | BTNT | validated | |
| OMIM | 182190 | BTNT | validated | |
| OMIM | 608567 | E | validated | |
| OMIM | 614090 | BTNT | validated | |
| OMIM | 619464 | BTNT | validated | |
| ICD-10 | I49.5 | NTBT | attributed | validated |
| ICD-11 | BC65.Y | NTBT | index | validated |
| MONDO | 0012061 | E | validated | |
| MeSH | D012804 | E | validated | |
| UMLS | C0340491 | E | validated | |
| GARD | 13663 | E | validated | |
| MedDRA | 10040639 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1260OBSOLETE: Sino-auricular heart block referred to · inactive
- ORPHA:3122OBSOLETE: Sinus node disease-myopia syndrome referred to · inactive
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4398 | ENSG00000172354 | 139390 | 7q22.1 | G protein subunit beta 2 | 28219978[PMID] |
| HCN4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16882 | ENSG00000138622 | 605206 | 15q24.1 | hyperpolarization activated cyclic nucleotide gated potassium channel 4 | |
| SCN5A | Disease-causing germline mutation(s) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | |
| MYH6 | Major susceptibility factor in | Assessed | HGNC:7576 | ENSG00000197616 | 160710 | 14q11.2 | myosin heavy chain 6 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166282
- This record as JSON: /data/d/166282.json