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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In order to assess left ventricular function, measurements of left ventricular internal dimension and its rate of change have been made by echocardiography in 7 patients with myotonic dystrophy and the three children of one of them, who were clinically normal but had abnormal muscle biopsies. Electrocardiograms and systolic time intervals were also recorded in all. Only one patient had signs of overt heart disease and an abnormal electrocardiogram (type B WPW). Systolic time intervals were normal in all 7 patients. Five subjects had echocardiographic abnormalities, which were of minor degree except in the patient with overt heart disease who had considerable impairment of both systolic and diastolic left ventricular function. Another patient had abnormalities of both systolic and diastolic function; systolic abnormalities occurred alone in one patient and diastolic abnormalities alone in one relative. It is concluded that patients with myotonic dystrophy and no clinical signs of heart disease may have minor abnormalities of left ventricular function as shown by echocardiography. Echocardiography is more sensitive than systolic time intervals in detecting these abnormalities; both systolic and diastolic function abnormalities, alone or together, can occur. There seems to be no relation between involvement of skeletal and cardiac muscle.
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PMID:Noninvasive assessment of left ventricular function in myotonic muscular dystrophy. 71 66

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

We followed 37 patients with myotonic dystrophy for a mean of 6 years. Two developed atrial flutter or fibrillation, 6 developed a new bundle branch block, 1 developed complete heart block requiring a pacemaker, and another with progressive 1st-degree heart block and a widening QRS interval had a sudden death. Most patients had predictable, gradually progressive disease of their cardiac conduction system. We recommend that patients with progressive atrioventricular block or widening QRS interval due to myotonic heart disease have yearly ECGs and be questioned about syncope or presyncope to determine the need for a cardiac pacemaker.
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PMID:Myotonic heart disease: a clinical follow-up. 154 47

The large frequency of arrhythmias and conduction disorders in the course of Steinert's myotonic dystrophy is well known; most of the time, the muscle disease is already known when the heart disease is discovered. The authors report three cases of young subjects (2, 31 and 35 years) in whom an atrial flutter without obvious etiology preceded by several years (14, 2.5 and 2 years) the diagnosis of muscular disease. On this occasion, the characteristics of the heart involvement in Steinert's disease are reminded: large frequency of atrial and also ventricular rhythm disorders, distalic conduction disorders. Our cases emphasize the importance of diagnosing Steinert's disease by clinical examination, electromyography and neuro-muscular biopsy in front of a rhythm disorder--especially atrial flutter--or an interventricular conduction disorders occurring, without obvious etiology, in a young subject.
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PMID:[Auricular flutter preceding by several years the discovery of Steinert's disease. 3 cases]. 266 Jul 34

Iris microhemangiomas (IM) are benign proliferations of small, twisted blood vessels along the pupillary margin. They are usually bilateral and appear to be developmental in nature. IMs most commonly occur in patients with myotonic dystrophy and adult-onset diabetes mellitus, but have also been associated with respiratory disease, congential heart disease, and central retinal vein occlusion. Additionally, they may be found in individuals without obvious ocular or systemic abnormality. The etiology remains obscure. In this report, illustrative cases are followed by a brief discussion outlining typical clinical manifestations, etiological considerations, and possible implications.
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PMID:Iris microhemangiomas. 318 74

Ten patients with myotonic dystrophy have been studied by M-mode and 2-dimensional echocardiography. Six patients had echocardiographic abnormalities: mitral valve prolapse, hypertrophy of the papillary muscles (2 cases); impaired regional left ventricular relaxation, probably due to "cardiac myotonia" (4 patients); and dilatative cardiomyopathy in the sole patient with overt heart disease. There seems to be no relation between involvement of skeletal and cardiac muscle. It is likely, although not proved, that myocardial involvement in myotonic dystrophy occur initially as "myotonia", followed by a "dystrophic" phase with severe dilatative cardiomyopathy, not unlike the skeletal muscle.
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PMID:[Echocardiographic findings in dystrophia myotonica (Steinert's disease)]. 654 38

Study of 30 patients with myotonic dystrophy and 17 unaffected family members in a total of 18 families by echocardiography and ECG, including noninvasive His-bundle recording, appeared to show two phenotypes of myotonic dystrophy: those with and those without substantial cardiac involvement. Besides the 29% incidence of asymptomatic mitral valve prolapse common to many neuromuscular diseases, 20% of families had progressive involvement of the cardiac conduction system. It is important to recognize these families in order to treat patients with cardiac pacemakers who are rapidly progressive or symptomatic. If one patient with myotonic dystrophy is found to have myotonic heart disease with cardiac block or arrhythmia, it should be expected in other family members with myotonic dystrophy.
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PMID:Families with myotonic dystrophy with and without cardiac involvement. 663 33

Myotonic dystrophy is an hereditary multisystemic disease, characterized by slowly progressive myotonic atrophy of skeletic muscles. The heart is frequently affected with occurrence of arrhythmias and His-Purkinje system dysfunction and, less frequently, myocardial dysfunction. The surface ECG is the most sensible indicator of heart disease, and the most common electrophysiological finding is the prolongation of the H-V interval. Patients usually have few cardiovascular symptoms, but when present, the most frequent are: syncope, arrhythmias, atrioventricular block, congestive heart failure and sudden death. We present two patients with sustained monomorphic ventricular tachycardia as initial presentation of cardiac disease.
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PMID:[Sustained monomorphic ventricular tachycardia in myotonic dystrophy]. 785 81

We use the hyperbolic relationship between cytosolic [ADP] and the rate of phosphocreatine (PCr) resynthesis after exercise to estimate the apparent maximum rate of oxidative ATP synthesis (QMAX). We examine data from some human diseases in which mitochondrial oxidation may be impaired (due to reduced mitochondrial numbers, intrinsic mitochondrial defect or impaired vascular supply). Muscle responds to impaired oxidation by stimulating anaerobic ATP synthesis and/or by increasing [ADP], the stimulus to the mitochondrion. However, these responses interact: [ADP] depends on pH and [PCr], and lactic acid production tends to lower [ADP] (by lowering pH), while proton efflux has the opposite effect. We identify four patterns of results: (A) in mitochondrial myopathy, apparent QMAX is reduced and [ADP] is appropriately increased, because increased proton efflux reduces the pH change in exercise despite increased lactic acid production; (B) in some conditions (e.g., cyanotic congenital heart disease) apparent QMAX is reduced but there is no compensatory rise in [ADP], probably because anaerobic ATP synthesis during exercise is increased without increase in proton efflux; (C) in other conditions (e.g., myotonic dystrophy) [ADP] is increased during exercise but apparent QMAX is normal, suggesting either an increase in proton efflux and/or decrease in anaerobic ATP synthesis during exercise; (D) there are also conditions (e.g., respiratory failure) where, despite impaired oxygen supply, both apparent QMAX and end-exercise [ADP] are normal. We also discuss the metabolic conditions under which end-exercise [ADP] is increased by a mitochondrial defect.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Quantitative analysis by 31P magnetic resonance spectroscopy of abnormal mitochondrial oxidation in skeletal muscle during recovery from exercise. 826 62

Sick sinus syndrome is a rare but potentially important cardiac disorder in patients with myotonic dystrophy. We evaluated 3 patients with myotonic dystrophy complicated with sick sinus syndrome using intracardiac electrocardiography and endomyocardial biopsy. Electrocardiography identified sinus arrest, atrial flutter and right bundle-branch block in 2 cases and marked sinus bradycardia and first-degree atrioventricular block in 1 case. Their sinus node recovery times were significantly prolonged as demonstrated by the overdrive suppression test. Two patients had Adams-Stokes syndrome and one had tachycardia with severe palpitations. Therefore permanent pacemaker implantation was indicated in all 3 cases. Light microscopic analysis of right ventricular endomyocardial biopsies showed vacuolar degeneration and nuclear deformity of cardiomyocytes in all cases and endocardial and interstitial fibrosis in 1 case. These findings indicate that pathological changes may occur in any part of the myocardium in patients with myotonic dystrophy.
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PMID:Association of myotonic dystrophy and sick sinus syndrome, with special reference to electrophysiological and histological examinations. 878 50


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