dilated cardiomyopathy 1A
Findings
No curated finding names dilated cardiomyopathy 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated 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 and elevated serum creatine kinase.
Definition from the Mondo Disease Ontology (MONDO:0007269), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiac conduction abnormalityHPOHP:0031546
- Very frequent (80% to 99% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- 27 of 40 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal left ventricular functionHPOHP:0005162
- Frequent (30% to 79% of cases)
- Abnormal myocardium morphologyHPOHP:0001637
- Frequent (30% to 79% of cases)
- Atrial fibrillationHPOHP:0005110
- 19 of 40 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LMNAHGNC:6636
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: dilated cardiomyopathy 1A
- Also called
- cardiomyopathy dilated with conduction defect type 1cardiomyopathy, dilated, type 1ACDCD1dilated cardiomyopathy type 1Afamilial dilated cardiomyopathy with conduction defect due to LMNA mutationfamilial isolated dilated cardiomyopathy caused by mutation in LMNALMNA familial isolated dilated cardiomyopathy