Heart-hand syndrome, Slovenian type
Synonyms: Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart-hand syndrome, Slovenian type | Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
| fr | Syndrome cardiomélique type slovène | Dysplasie atrio-digitale type slovène · Syndrome coeur-main type slovène · Syndrome coeur-membres type slovène · Syndrome de trouble du rythme-cardiomyopathie dilatée-brachydactylie |
| de | Herz-Hand-Syndrom, slowenischer Typ | Atriodigitale Dysplasie vom slowenischen Typ · Kardiale Reizleitungsstörungen-dilatative Kardiomyopathie-Brachydaktylie-Syndrom |
| es | Síndrome corazón-mano tipo esloveno | Displasia atriodigital tipo esloveno · Síndrome de enfermedad de conducción cardíaca-miocardiopatía dilatada-braquidactilia |
| it | Sindrome cuore-mano, tipo sloveno | Displasia atriodigitale, tipo sloveno · Sindrome disturbo della conduzione cardiaca-cardiomiopatia dilatativa-brachidattilia |
| nl | Hart-handsyndroom, Sloveens type | Atriodigitale dysplasie, Sloveens type · Hartgeleidingsziekte - gedilateerde cardiomyopathie - brachydactylie-syndroom |
| pt | Síndrome mão-coração, tipo esloveno | |
| pl | Zespół serce-ręka, typ słoweński | Choroba przewodzenia w sercu - kardiomiopatia rozstrzeniowa - brachydaktylia · Dysplazja przedsionkowo-palcowa, typ słoweński |
| cs | Syndrom srdce-ruka, slovinský typ | Atriodigitální dysplázie, slovinský typ · Syndrom zahrnující poruchu převodního systému srdce, dilatační kardiomyopatii a brachydaktylii · Syndrom Holtové-Oramův · Syndrom Holt-Oramův |
| uk | Синдром серце-рука, словенський тип | Атріодигітальна дисплазія, словенський тип · Синдром порушення серцевої провідності - дилатаційної кардіоміопатії-брахідактилії |
| zh | 斯洛文尼亚型心手综合征 | 心脏传导疾病-扩张性心肌病-短指（趾）综合征 |
| tr | Kalp-el sendromu, Sloven tipi | Atriodijital displazi, Sloven tipi · Kardiyak ileti hastalığı-dilate kardiyomiyopati-brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610140 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012417 | E | validated | |
| MeSH | C535852 | E | validated | |
| UMLS | C1857829 | E | validated | |
| GARD | 9846 | 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 (4):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:228184Heart-hand syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 18611980[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 15996213[PMID]_27723096[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15996213[PMID]_27723096[PMID] |
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
7 annotations · validated 2017-08-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0011702 | Abnormal electrophysiology of sinoatrial node origin | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0005115 | Supraventricular arrhythmia | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 18611980[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168796
- This record as JSON: /data/d/168796.json