Cardiomyopathy in Myotonic Dystrophy

Familial neuromuscular cardiomyopathy: A review and pooled analysis of pathophysiology, diagnosis and clinical management

“…In some DM patients with normal resting ejection fraction, stress testing may reveal failure of EF to augment with exercise [80]. Tanaka et al [84] described a case of CM in a 31-year old DM female who presented with slight cardiac symptoms. Light microscopy revealed considerable degree of fatty infiltration in the myocardium, slight interstitial fibrosis and degenerated myocardial cells.…”

“…Electron microscopy revealed marked mitochondriosis and small number of vacuoles consisting of single limiting membrane. Endomyocardial biopsy (EMB) was useful to detect myocardial changes even in the early stages of the disease and electron microscopy examination of the myocardium may provide finding that is pathognomonic for the development of CM in DM patients [84].…”

“…DM1 patients may develop age-related cardiovascular complications including coronary artery disease and valvulopathies. Detection of these cardiac defects rests on a combination of laboratory, ECG and non-invasive imaging tests [84,88,89]. In a study examining the incidence and progression of ECG abnormalities in 45 DM patients, 58% on entry had at least one ECG abnormality and 38% had conduction abnormalities.…”

“…Ventricular dysfunction and structural changes have been documented by non-invasive imaging (echocardiography and CMRI) [83,90].echocardiography has been show to detect diastolic dysfunction in the early phase of the disease and LV/LA dilatation and LV hypertrophy later in the course of the disease [83,84]. Cardiac MRI has greater sensitivity and reproducibility to demonstrate early abnormalities when standard cardiac evaluation is unremarkable [91].…”