Purpose: evaluate treatment stages of dilated cardiomyopathy (DCM) in a patient with Emery-Dreifuss muscular dystrophy (EDMD).
Methods: male patient, 38 y.o., suffers low progressive skeletal myopathy from the childhood. Patient`s mother has no clinical signs of myopathy but got a pacemaker at the age of 54 y.o. Now she revealed moderate dilation of the cardiac chambers with ejection fraction (EF) 50%. Two patient`s sons are healthy. From the age of 32 years patient had arrhythmias and minimal EF reduction. In 2012, he showed signs of DCM, sick sinus syndrome, transient AV block II degree type 1, paroxismal atrial flutter, and unsustained ventricular tachycardia (VT).
Results: The examination revealed walking difficulties, moderate knees and elbows contractures, high CK level, normal intelligence, significant arrhythmias (atrial flutter, AV block I-II, right bundle branch block, about 5.000 PVCs per day), and DCM (left ventricle diastolic diameter 6.6 cm, EF 42%). Mutations analysis was performed by PCR-based direct Sanger sequencing of coding area and adjacent intronic areas of genes of interest. Two genetic variants were detected: frame-shift deletion c.del619C in EMD gene causing premature stop-codon appearance and protein shortening (p.236X), and c.IVS4-13T>A in LMNA gene. Both variants were not found in control group of 100 healthy volunteers. The patient`s mother revealed a deletion c.del619C in the heterozygous state. Radiofrequency ablation of the cavotricuspid isthmus was performed, and dual-chamber ICD was implanted. The patient received amiodarone, but during 5 month after ICD implantation developed persistent incisional atrial flutter with a progressive impairment of cardiac pump function (EF 16%). Signs of the associated myocarditis were not detected. Electrical defibrillation was effective, but complicated by sustained VT. During the following week patient had repeated appropriate shocks, ECMO and urgent heart transplantation were successfully performed. Morphologic study revealed diffuse myocardial fibrosis, atrophy and hypertrophy of cardiomyocytes. After basiliximab induction therapy, prednisone, tacrolimus and mycophenolate were assigned. The follow-up period is 12 month with significant health improvement.
Conclusions: cardiac involvement in EDMD can rapidly progress and requires regular monitoring. In all cases of impairment, should be excluded myocarditis. Verification of a genetic variant is essential for treatment strategy. Despite the peripheral myopathy and limitations in the application of anesthetics, heart transplantation can be performed successfully.