Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | |
| fr | Cardiomyopathie dilatée familiale avec trouble de la conduction due à une mutation de LMNA | |
| de | Familiäre dilatative Kardiomyopathie mit Reizleitungs-Defekt durch LMNA-Genmutation | |
| es | Miocardiopatía dilatada familiar con defecto de conducción por una mutación en el gen LMNA | |
| it | Cardiomiopatia dilatativa familiare con difetto di conduzione da mutazione in LMNA | |
| nl | Familiale gedilateerde cardiomyopathie met geleidingsdefect door LMNA-mutatie | |
| pt | Cardiomiopatia dilatada familiar com defeitos de condução por mutação no gene LMNA | |
| pl | Rodzinna kardiomiopatia rozstrzeniowa z zaburzeniami przewodzenia z powodu mutacji LMNA | |
| cs | Familiární dilatační kardiomyopatie s převodním defektem, způsobená mutací v LMNA | |
| uk | Сімейна дилатаційна кардіоміопатія з дефектом провідності внаслідок мутації LMNA | |
| zh | LMNA基因突变所致家族性扩张型心肌病伴传导阻滞 | |
| tr | LMNA mutasyonuna bağlı iletim defekti ile seyreden ailesel dilate kardiyomiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115200 | E | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.00 | NTBT | index | validated |
| MONDO | 0007269 | E | validated | |
| MONDO | 7269 | E | validated | |
| UMLS | C4707865 | 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 (3):
- ORPHA:217607Familial dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:83618Severe dilated cardiomyopathy due to lamin A/C mutation moved to · inactive
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 | 20301717[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
17 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031546 | Cardiac conduction abnormality | Diagnostic criterion |
| HP:0001644 | Dilated cardiomyopathy | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0005110 | Atrial fibrillation | |
| HP:0009125 | Lipodystrophy | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001279 | Syncope | |
| Occasional (29-5%) | ||
| HP:0031409 | Abnormal lymphocyte physiology | |
| HP:0004749 | Atrial flutter | |
| HP:0001635 | Congestive heart failure | |
| HP:0012722 | Heart block | |
| HP:0003560 | Muscular dystrophy | |
| HP:0001698 | Pericardial effusion | |
| HP:0012723 | Sinoatrial block | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0004308 | Ventricular arrhythmia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23463027[PMID]_8567977[PMID]_16407522[PMID]_7546997[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300751
- This record as JSON: /data/d/300751.json