Progression of Cardiac Involvement in Patients with Myotonic Dystrophy, Becker’s Muscular Dystrophy and Mitochondrial Myopathy during a 2-Year Follow-Up

Abstract

The aim of this prospective noninvasive follow-up study was (1) to assess the progression of cardiac involvement (CI) in patients with myotonic dystrophy (MD), Becker’s muscular dystrophy (BMD) and mitochondrial myopathy (MMP), (2) to find out if CI and neurologic impairment are related and (3) to determine how often cardiac investigations should be performed. Clinical, electrocardiographic, echocardiographic and 24-hour ambulatory electrocardiographic examinations were performed at yearly intervals. CI was assessed qualitatively by the presence of pathologic examinations and quantitatively by the number of pathologic examinations. Qualitatively, CI was present at baseline in 36 of the 38 cases (18–68 years) and the number of cases did not change. Quantitatively, CI progressed after 1 (2) year in 50% (50%) of patients with MD (n = 16), 0% (43%) of patients with BMD (n = 7) and 27% (27%) of patients with MMP (n = 15). CI and neurologic impairment were not related (p = 0.54). Cardiac investigations should be repeated at yearly intervals irrespective of whether there is neurologic deterioration or not.

Nail-Patella Syndrome Associated with Respiratory Chain Disorder

“…Abnormalities that were attributable to an RCD in our patient were tinnitus, anginal chest pain, left ventricular abnormal trabeculation, heart failure, hyperhidrosis, renal failure, polyneuropathy, abnormal lactate stress test and myopathy with fatigability, muscle cramps and an abnormally high level of plasma creatine kinase [12]. Cardiac involvement is a frequent finding in RCD, usually manifesting as anginal chest pain, heart failure, electrocardiographic abnormalities, myocardial thickening and abnormal left ventricular trabeculation [14, 15]. The pathogenesis of anginal chest pain in our patient could not be definitively determined, but it is speculated that chest pain was due to contractions of the intercostal muscles or the diaphragm.…”

Cardiac Involvement in Werdnig-Hoffmann’s Spinal Muscular At rophy

“…Concerning the cardiovascular history, the following abnormalities were evaluated: arterial hypertension, confirmed coronary heart disease, angina pectoris, diabetes, exertional dyspnea, edema, palpitations, syncope and documented arrhythmias [1, 2]. On physical examination, the following abnormalities were evaluated: neck vein distension, edema and pulmonary rales.…”

“…Cardiac involvement (CI) is a frequent finding in patients with neuromuscular disorders [1, 2]. CI can be most often observed in myopathies (muscular dystrophies, metabolic myopathies, congenital myopathies) [3].…”

Neuromuscular Diseases and Rehabilitation

“…The most commonly used screening test in clinic has two types: resting electrocardiography (ECG) and ambulatory ECG (Holter). Cardiac rhythm, intraventricular state, and ectopic beats can be evaluated noninvasively with ECG [139,140]. In particular, cardiopulmonary exercise tests in individuals with severe neuromuscular disease generally show a decrease in maximal oxygen consumption, a decrease in pulmonary ventilation, a reduction in work capacity, and an elevation of resting heart rate.…”