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Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

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Disease definition

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.

ORPHA:300751

Classification level: Disorder

Prevalence: Unknown

Inheritance: Autosomal dominant

Age of onset: Adult

ICD-10: I42.0

OMIM: 115200

UMLS: C4707865

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Italiano (2018) Nederlands (2020)
Detailed information
Guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
English (2022) - GeneReviews
English (2022) - GeneReviews
Genetic testing
Guidance for genetic testing

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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