cardiovascular disorders
Lamin A C Cardiomyopathy (Cardiolaminopathy)
Diagnosis of Lamin A C Cardiomyopathy
ECG Cardiac imaging (eg, echocardiography, cardiac MRI) Genetic testing Screening of first-degree family members Diagnosis is suspected in young patients with palpitations, syncope, or resuscitation from unexplained cardiac arrest, particularly if they also have skeletal muscle weakness and/or a family history of arrhythmias and/or heart failure. Patients should have ECG, ambulatory cardiac rhythm monitoring, and cardiac imaging, typically echocardiography and/or cardiac MRI. If conduction disturbances, tachyarrhythmias, and/or cardiomyopathy are detected, genetic testing is done. The yield of genetic testing rises from 5% to 10% in the general population of patients with idiopathic dilated cardiomyopathy to approximately one-third in patients with AV conduction disturbances and a family history of cardiomyopathy. First-degree family members of patients have a significant risk of disease. They should have clinical evaluation (ie, to detect symptoms suggestive of arrhythmia, muscle weakness, and/or heart failure), ECG, ambulatory cardiac rhythm monitoring, and echocardiography initially and then every 1 to 3 years. Genetic testing is done if the index case has a mutation identified. Family members who are not carriers of that mutation do not require ongoing testing. 