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The cause of laminopathies is known, but not well-understood. Several hundred different LMNA mutations have been reported but our ability to explain why each LMNA mutation leads to dilated cardiomyopathy or another Laminopathy problem remains limited.
In the case of Dilated Cardiomyopathy due to LMNA mutations, the main medical treatments focus on managing underlying heart failure and arrhythmias. Therefore, standard and available treatments for 'heart failure' and arrhythmias should be considered. Due to the rarity of LMNA mutations, experts in Laminopathies have recommended that treating providers should ideally have some familiarity with Laminopathies and genetics.
Genetic testing is often used to identify other relatives with LMNA mutations in a family who do not yet have symptoms; these persons 'carrying' a LMNA mutation are then monitored regularly for the development of Laminopathy symptoms.
Researchers, including our research group, continue to study Dilated Cardiomyopathy due LMNA mutations and are participating in an ongoing clinical trial to treat some patients with LMNA mutations.