Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CCDD Cardiac conduction disease with or without dilated cardiomyopathy |
| Number of Symptoms | 19 |
| OrphanetNr: | 436242 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 0.1 of 100 000 |
| Inheritance: |
Autosomal dominant 24925317 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac rhythm disease
-Rare cardiac disease -Rare genetic disease |
Comment:
| Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease is a syndrome of variably expressed electrical and myopathic heart disease, with conduction system disease and atrial arrhythmia (PMID:24925317). |
Symptom Information:
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(HPO:0001678) | Atrioventricular block | Frequent [IBIS] | 57% (n=7) | 24925317 | IBIS | 59 / 7739 |
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(HPO:0011712) | Right bundle branch block | Frequent [IBIS] | 57% (n=7) | 24925317 | IBIS | 34 / 7739 |
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(HPO:0006671) | Paroxysmal atrial tachycardia | Occasional [IBIS] | 14% (n=7) | 24925317 | IBIS | 4 / 7739 |
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(HPO:0004757) | Paroxysmal atrial fibrillation | Occasional [IBIS] | 29% (n=7) | 24925317 | IBIS | 16 / 7739 |
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(HPO:0004754) | Permanent atrial fibrillation | Occasional [IBIS] | 14% (n=7) | 24925317 | IBIS | 8 / 7739 |
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(OMIM) | Myocyte hypertrophy | 24925317 | IBIS | 10 / 7739 | ||
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(HPO:0012664) | Reduced ejection fraction | 24925317 | IBIS | 32 / 7739 | ||
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(HPO:0001712) | Left ventricular hypertrophy | 24925317 | IBIS | 76 / 7739 | ||
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(HPO:0002094) | Dyspnea | 24925317 | IBIS | 132 / 7739 | ||
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(HPO:0006682) | Ventricular extrasystoles | 24925317 | IBIS | 25 / 7739 | ||
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(HPO:0011701) | Multifocal atrial tachycardia | Occasional [IBIS] | 29% (n=7) | 24925317 | IBIS | 7 / 7739 |
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(HPO:0004755) | Supraventricular tachycardia | 24925317 | IBIS | 20 / 7739 | ||
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(MedDRA:10000032) | Cardiac conduction disorders | Very frequent [IBIS] | 24925317 | IBIS | 5 / 7739 | |
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(HPO:0005110) | Atrial fibrillation | Frequent [IBIS] | 43% (n=7) | 24925317 | IBIS | 71 / 7739 |
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(HPO:0001644) | Dilated cardiomyopathy | Frequent [IBIS] | 24925317 | IBIS | 141 / 7739 | |
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(HPO:0001635) | Congestive heart failure | 24925317 | IBIS | 232 / 7739 | ||
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(HPO:0004749) | Atrial flutter | Occasional [IBIS] | 14% (n=7) | 24925317 | IBIS | 20 / 7739 |
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(HPO:0001692) | Primary atrial arrhythmia | 24925317 | IBIS | 16 / 7739 | ||
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(HPO:0011711) | Left anterior fascicular block | Frequent [IBIS] | 71% (n=4) | 24925317 | IBIS | 7 / 7739 |
Associated genes:
| TNNI3K; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| TNNI3K | rs606231469 | pathogenic | RCV000148950.4 |