Orphanet: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

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Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

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.

Detailed information

Guidelines

Clinical practice guidelines
Français (2022) - PNDS

Disease review articles

Clinical genetics review
English (2022) - GeneReviews

Genetic Testing

Guidance for genetic testing
Français (2016, pdf) - ANPGM

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Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

ORPHA:300751

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020) Italiano (2018)

Guidelines

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services