1/39. A novel form of familial congenital muscular dystrophy in two adolescents.We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.5%) without fibre-type disproportion. Clinical examination at 12 and 9 years, respectively, showed mild facial weakness and high-arched palate in both patients. The younger sibling also had ptosis but otherwise normal external ocular muscles. They showed symmetric proximal muscle weakness and wasting associated with calf-muscle hypertrophy. They could walk independently. A repeat muscle biopsy showed advanced dystrophic changes in the younger patient at the age of 10 years. Virtually all the remaining fibres were type 1. immunohistochemistry revealed normal expression of the dystrophin-glycoprotein complex (DGC), including dystrophin, beta-dystroglycan, alpha-(adhalin), beta-, gamma-, and delta-sarcoglycan, laminin-alpha2 chain (merosin) and syntrophin. Mild dystrophic features and type-1 fibre predominance (92.5%) were seen in the biopsy of the older patient, whereas immunohistochemistry showed normal expression of the DGC. Both cases also showed clear expression of integrin alpha7 at the muscle fibre surface and in the blood vessels. Three years later, they could still walk, but with difficulty, and the older brother showed enlargement of the tongue and echocardiographic features of left ventricular dilated cardiomyopathy.- - - - - - - - - - ranking = 1keywords = cardiomyopathy (Clic here for more details about this article) |
2/39. Rapid progression of cardiomyopathy in mitochondrial diabetes.Cardiac involvement and its clinical course in a diabetic patient with a mitochondrial tRNA(Leu)(UUR) mutation at position 3243 is reported in a 54-year-old man with no history of hypertension. At age 46, an electrocardiogram showed just T wave abnormalities. At age 49, it fulfilled SV1 RV5 or 6>35 mm with strain pattern. At age 52, echocardiography revealed definite left ventricular (LV) hypertrophy, and abnormally increased mitochondria were shown in biopsied endomyocardial specimens. He was diagnosed as having developed hypertrophic cardiomyopathy associated with the mutation. However, at age 54, SV1 and RV5,6 voltages were decreased, and echocardiography showed diffuse decreased LV wall motion and LV dilatation. Because he had mitochondrial diabetes, the patient's heart rapidly developed hypertrophic cardiomyopathy, and then it seemed to be changing to a dilated LV with systolic dysfunction. Rapid progression of cardiomyopathy can occur in mitochondrial diabetes.- - - - - - - - - - ranking = 7keywords = cardiomyopathy (Clic here for more details about this article) |
3/39. A patient with hypertrophic cardiomyopathy accompanied by right ventricular dilation of unknown cause.Hypertrophic cardiomyopathy (HCM) is a disease characterized by an unknown cause of hypertrophy in the left or right ventricle. The dilated phase of HCM shows disease conditions resembling dilated cardiomyopathy, such as ventricular dilation, thin ventricular wall, and reduction of the ejection fraction. A patient presented with left ventricular concentric hypertrophy accompanied by right ventricular dilatation of unknown cause. Right ventricular endomyocardial biopsy specimens showed characteristic myocardial disarray. Therefore, there is the possibility that the patient had right and left ventricular HCM in the process toward the dilated phase, in which dilatation first occurred in the right ventricle.- - - - - - - - - - ranking = 6keywords = cardiomyopathy (Clic here for more details about this article) |
4/39. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant.Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the heart, kidneys, and peripheral nervous system. The disease is always progressive and fatal, and patients die 7 to 10 years after the onset of symptoms. liver transplantation is at present the only choice for these patients because it provides improvement of symptoms and/or stops progression of the disease in most patients. We report the case of a patient who showed clear progression of cardiomyopathy and neuropathy after liver transplantation.- - - - - - - - - - ranking = 5keywords = cardiomyopathy (Clic here for more details about this article) |
5/39. Evolution of left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy.Left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) is fairly well known, but the evolution of LV involvement during long-term follow-up has not been well documented. We describe such evolution in a patient followed for 9 years. Evolution was confirmed by a progressive perfusion defect of the LV wall in myocardial scintigrams and by the development of LV asynergy with ventricular aneurysm formation in left ventriculograms. As the right ventricle progressively enlarged, we concluded that ARVC is a diffuse and progressive myocardial disease that affects both ventricles.- - - - - - - - - - ranking = 5keywords = cardiomyopathy (Clic here for more details about this article) |
6/39. A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes.This report describes a case of cardiomyopathy with a novel point mutation of mitochondrial dna coding lysine tRNA in association with severe ultrastructural alterations of the mitochondria in the cardiomyocytes. Abnormalities of energy production and/or abnormal protein synthesis because of the mutation of mitochondrial dna may have played an important role in the pathogenesis of this case, which showed severe cardiomyocyte degeneration and deterioration from hypertrophic cardiomyopathy to severe dilated cardiomyopathy.- - - - - - - - - - ranking = 7keywords = cardiomyopathy (Clic here for more details about this article) |
7/39. Case report: spontaneous atriofascicular pathway automaticity simulating ventricular tachycardia.Atriofascicular pathways most commonly present electrocardiographically as an antidromic reciprocating AV reentrant tachycardia. We report the case of a child who presented in infancy with a wide QRS complex tachycardia thought to be supraventricular tachycardia with aberrant conduction, associated with tachycardia-induced cardiomyopathy. Later in life the same patient represented with episodes of palpitations secondary to a wide QRS complex tachycardia, thought to be ventricular tachycardia. Electrophysiologic mapping demonstrated the origin of the wide QRS complex tachycardia was from automatic activity originating from a right anterolateral atriofascicular pathway, which also participated in a reentrant antidromic AV reciprocating tachycardia. Radiofrequency ablation of the atriofascicular pathway successfully eliminated both arrhythmias. The mechanism of the wide QRS complex tachycardia appeared to result from spontaneous automaticity of the atriofascicular pathway.- - - - - - - - - - ranking = 1keywords = cardiomyopathy (Clic here for more details about this article) |
8/39. friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.Around a quarter of friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three patients belong to a family with occipital dysplasia (OD) and Chiari I malformation previously reported by us. We have carried out serial examinations since 1977. Electrophysiological and neuroimaging studies, and molecular genetic analyses of hereditary ataxias are available in all three patients. Onset of symptoms occurred between 25 and 35 years. The clinical picture consisted of progressive spastic gait, truncal and limb ataxia, dysarthria, nystagmus, hyperreflexia with knee and ankle clonus and extensor plantar response, and mild hypopallesthesia. Ages at present vary between 50 and 59. One patient is wheelchair-bound but the other two are able to walk with support. Leaving OD aside, skeletal anomalies are not prominent. All three patients showed cardiomyopathy. MR imaging revealed atrophy of the cerebellum and spinal cord. Motor and sensory nerve conduction velocities were normal. Central conduction time of both motor and sensory pathways was delayed or unobtainable. All three patients were homozygous for the GAA expansion, the smaller expanded allele ranging between 131 and 156 repeats. Four heterozygotic carriers were detected among non-ataxic relatives including one with OD; furthermore, an asymptomatic OD patient showed normal genotype. We conclude that adult onset spastic ataxia is a distinctive FA phenotype associated with minimal GAA expansion. This phenotype represents a new cause of selective distal degeneration of central sensory axons. The present concurrence of OD and FA reflects coincidental cosegregation of two different inherited disorders.- - - - - - - - - - ranking = 1keywords = cardiomyopathy (Clic here for more details about this article) |
9/39. Progressive cardiomyopathy as manifestation of mitochondrial disease.cardiomyopathies are a clinically and genetically heterogeneous group of cardiac diseases in which the myocardium is primarily involved. Mitochondrial dna point mutations have been identified in a broad spectrum of mitochondrial disorders, which are associated with neurological diseases. However, they also have been reported in patients with cardiomyopathy, either alone or as part of a multisystem disorder. A patient who presented with severe heart failure and was diagnosed as having a mitochondrial A3243G mutation is described.- - - - - - - - - - ranking = 5keywords = cardiomyopathy (Clic here for more details about this article) |
10/39. An infant with subvalvar and valvar aortic stenosis, subvalvar and valvar pulmonary stenosis, severe biventricular hypertrophy and pulmonary hemorrhage.An infant with subvalvar and valvar pulmonary stenosis, subvalvar, and valvar aortic stenosis and hypertrophic cardiomyopathy, who presented with pulmonary hemorrhage, is reported. He had right ventricular hypertrophy, thickened pulmonary valve leaflets, severe asymmetric left ventricular hypertrophy with outflow tract obstruction, and a thickened and dysplastic aortic valve.- - - - - - - - - - ranking = 1keywords = cardiomyopathy (Clic here for more details about this article) |
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