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We have experienced a mitral valve plasty for mitral regurgitation combined with dilated cardiomyopathy in a 21-year-old male patient with Noonan's syndrome, who had suffered from recurrent congestive heart failure. In echocardiography, severe mitral regurgitation and prolapse of the posterior mitral leaflet were noted. The left ventricle was dilated and the function was severely deteriorated. The plasty consisted of plication of the prolapsed posterior leaflet and annuloplasty with Carpentier ring. Intraoperative biopsy of the myocardium of the left ventricle showed an appearance consisting with dilated cardiomyopathy. Postoperatively the mitral regurgitation disappeared and the patient returned to his ordinary life.
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PMID:[Successful mitral valve plasty for mitral regurgitation combined with dilated cardiomyopathy in Noonan's syndrome]. 761 41

The many changes in classification of cardiovascular disease during the twentieth century reflect changing etiology of diseases, clinical comprehension and technological advances. In particular, the etiology of valvular heart disease has changed dramatically in the last five decades. The significant reduction of acute rheumatic fever and its sequelae, and the recognition of non-rheumatic causes of valvular disease are responsible for the metamorphosis in the etiology of valvular disorders. Valvular heart disease can be classified as follows: 1) Heritable-congenital causes of valvular heart disease e.g., floppy mitral valve with mitral valve prolapse, bicuspid aortic valve, and the Marfan syndrome; 2) Inflammatory-immunologic causes such as rheumatic fever, acquired immune deficiency syndrome, endocardial proliferative disorders, and antiphospolipid syndrome; 3) Myocardial dysfunction-ischemic cardiomyopathy, dilated or hypertrophic cardiomyopathy-resulting in valvular heart disease; 4) Diseases and disorders of other organs as causes of valvular heart disease, e.g., chronic renal failure and carcinoid heart disease; 5) Valvular heart disease related to aging: calcific aortic stenosis and mitral annular calcification; 6) Valvular disease following interventions such as valvuloplasty, valve reconstructive surgery and valve replacement; and 7) Valvular disease related to drugs and physical agents, such as chronic ergotamine use, radiation therapy and trauma. In clinical practice the most common causes of mitral regurgitation are floppy mitral valve with mitral valve prolapse, ischemic heart disease, dilated cardiomyopathy and mitral annular calcification, while the most common cause of mitral stenosis is rheumatic fever. The most common causes of isolated aortic regurgitation are bicuspid aortic valve and floppy aortic valve, while the most common causes of isolated aortic stenosis are related to the bicuspid aortic valve and the development of calcific senile aortic stenosis. The most common causes of tricuspid regurgitation are dilated cardiomyopathy, ischemic cardiomyopathy, floppy tricuspid valve with tricuspid valve prolapse and infectious endocarditis. Combined mitral and tricuspid regurgitation occur with heritable connective tissue disorders, dilated or ischemic cardiomyopathy, while the most common cause of mitral stenosis plus aortic regurgitation is rheumatic fever. Statistics obtained from cardiac surgery and necropsy may underestimate the true incidence of certain valvular diseases by selection bias. This is particularly so with valvular disease associated with significant ventricular dysfunction, or in the elderly who may not be surgical candidates, or in cases where the valvular disease is not severe enough to require surgical intervention. Recent advances in hemodynamic and imaging technology allow clinicians to define valvular structure and function and to accurately classify valvular heart disease in clinical practice.
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PMID:Valvular heart disease: the influence of changing etiology on nosology. 800 Jun 16

Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission. Clinical symptoms include orofaciolingual dyskinesia and involuntary choreiform movements associated with skeletal muscle atrophy due to axonal demyelinization and erythrocyte acanthocytosis. A few patients have some cardiac abnormality, including an electrocardiographic pattern of left ventricular hypertrophy, left atrial wave abnormalities, non-specific ST-T wave changes, and a pseudonecrosis pattern with abnormal Q waves in the inferior leads. Two-dimensional echocardiography has disclosed concentric ventricular hypertrophy and the typical findings of congestive cardiomyopathy. We report the case of two brothers, 40 and 58 years old, who had asymmetric left ventricular hypertrophy (more marked in the younger brother), left ventricular mass index increase unrelated to a hypertensive state or the percent of circulating acanthocytes. Functional systolic parameters were normal. The younger brother had dilation of the aortic root and marked enlargement of the non-coronary Valsalva sinus, and both patients manifested mitral leaflet redundancy without evident prolapse. Our observations suggest the hypothesis that connective tissue and/or vessel muscle-elastic fiber pathology is associated with the well-known neurological disorders typical of the Levine-Critchley syndrome. It is thus advisable that these patients undergo thorough cardiovascular evaluation.
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PMID:[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases]. 871 61

Twenty patients with symptomatic monomorphic ventricular tachycardia (VT) underwent radiofrequency (RF) energy catheter ablation. Four patients (20%) had underlying heart disease (1 prolapse mitral valve, 1 dilated cardiomyopathy and 2 myocarditis). Five patients (25%) had left sided VT and right sided VT in the remainder (75%). Radiofrequency catheter ablation was initially successful in all patients without major complication. Recurrence occurred in three patients (15%). In conclusion, RF ablation is an effective treatment for symptomatic monomorphic right and left sided VT especially in patients who do not want long term antiarrhythmic agents.
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PMID:Radiofrequency catheter ablation in monomorphic ventricular tachycardia. 885 9

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.
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PMID:A novel form of familial congenital muscular dystrophy in two adolescents. 1002 46

Significant mitral regurgitation (MR) may result from primary valve dysfunction or develop secondary to ischemic or dilated cardiomyopathy. The index 'isovolumic contraction time and isovolumic relaxation time divided by ejection time' (ICT + IRT/ET, 'Tei-index') is a well established measure of global cardiac function in patients with dilated cardiomyopathy and cardiac amyloidosis. We sought to define the diagnostic value of the Tei-index in patients with significant MR of various origin. Sixteen asymptomatic control subjects (8 male (m)/8 female (f), age 62+/-8 years, control group), 12 patients with primary MR (PMR) (mean grade 3.1+/-0.3, due to rupture of the chordae tendineae (n = 2), flail leaflet (n = 1), valve prolapse (n = 6) or rheumatic degeneration (n = 3), 6 m/6 f, age 58+/-18 years, NYHA class 2.5+/-0.3, PMR group) and 25 patients with secondary MR (SMR) (mean grade 3.1+/-0.3; due to ischemic (n = 14) or dilated cardiomyopathy (n = 10), 19 m/6 f, age 60+/-11 years, NYHA class 3.1+/-0.5, SMR group) underwent conventional two-dimensional (2D) and Doppler echocardiographic examination including measurement of the Tei-index. In the SMR group, left ventricular ejection fraction was reduced compared to the control and the PMR group (29+/-13% vs. 59+/-8% and 59+/-8%, p < 0.001 for both comparisons). The E/A ratio was elevated in PMR and SMR groups in comparison to the control group (1.74+/-0.44 and 1.70+/-0.45 vs. 1.09+/-0.28, p < 0.05). The Tei-index was easily and reproducibly measured in all study subjects. The mean value of the index was significantly elevated in the SMR group compared to control and PMR groups (0.87+/-0.3 vs. 0.42+/-0.07 and 0.38+/-0.05, p < 0.001). The difference between the control group and the PMR group did not reach statistical significance. In MR patients, receiver operating characteristic curve analysis for the Tei-index yielded an area under the curve of 0.96+/-0.03 for separating the PMR and the SMR group. Using a Tei-index > 0.51 as a cutpoint, SMR was identified with a sensitivity of 92% and a specificity of 88%. In MR patients, a significant correlation between left ventricular end-systolic volume and the Tei-index was observed (r = 0.71, p < 0.01). The Tei-index is a feasible and sensitive indicator of overall cardiac dysfunction in severely symptomatic patients with significant MR secondary to ischemic or dilated cardiomyopathy. The index is in the normal range in symptomatic patients with PMR and preserved systolic function. The Tei-index differentiates between patients with SMR and PMR and may be useful in the work-up of such patients.
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PMID:Tei-index in symptomatic patients with primary and secondary mitral regurgitation. 1210 5

Quantification of mitral regurgitation is still a controversial issue. Because quantitative analysis using the volumetric method is time-consuming, semi-quantitative analysis based on the characteristics of the regurgitant jet in the left atrium is the method used in daily clinical practice, despite its recognized limitations. In the last ten years various papers have proposed the PISA method as an alternative to the volumetric one, as the same quantitative parameters--regurgitant volume (RV) and effective regurgitant orifice (ERO)--can be obtained with a small number of measurements. The aim of the present study was to determine the degree of correlation and agreement between the two quantitative methods and to what extent the semi-quantitative analysis parameters correlated with the quantitative ones. We also compared the performance of the PISA method and semi-quantitative analysis in grading mitral regurgitation severity, using the volumetric method as gold standard. The study enrolled 77 patients (pts) aged 62 +/- 13 years (43 M and 34 F) with at least moderate mitral regurgitation determined by standard two-dimensional Doppler echo color flow imaging. The etiology of mitral valve regurgitation was: degenerative prolapse--40 pts (52%), ischemic--24 (31%), dilated cardiomyopathy--4 (5%), other pathologies-9 (12%). A sonographer performed the examinations under the supervision of one of two senior cardiologists. All quantitative Doppler measurements and calculations were performed on-line and the examinations recorded on videotape. Good correlations were found between RV (r = 0.81, p < 0.001, SE +/- 25) and ERO (r = 0.85, p < 0.001, SE +/- 17) measurements obtained by the two quantitative methods. However, the agreement was weakened by significant individual differences, particularly in the patients with degenerative prolapse. A satisfactory correlation was found between the jet area (JA) evaluated by semi-quantitative analysis and the RV and ERO calculated by both quantitative methods, with JA showing a tendency to underestimate the degree of mitral regurgitation in eccentric jets and to overestimate it in jets with central orientation. ROC curve analysis was used to evaluate the accuracy of ERO calculated by PISA and the JA by color Doppler in identifying different grades of mitral regurgitation defined by the values of ERO in the volumetric method. The calculated values of the area under the curve for the PISA ERO were higher than those for JA in the identification of patients with mild 0.93 (0.84-0.97) vs. 0.80 (0.70-0.89) p = 0.005 as well as severe mitral regurgitation 0.95 (0.87-0.98) vs. 0.81 (0.71-0.90) p = 0.006).
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PMID:Mitral valve regurgitation--quantification by Doppler echo (quantitative versus semi-quantitative methods). 1458 58

The F(o)F(1)-ATPase, a multisubunit protein complex of the inner mitochondrial membrane, produces most of the ATP in mammalian cells. Mitochondrial diseases as a result of a dysfunction of ATPase can be caused by mutations in mitochondrial DNA-encoded ATPase subunit a or rarely by an ATPase defect of nuclear origin. Here we present a detailed functional and immunochemical analysis of a new case of selective and generalized ATPase deficiency found in an Austrian patient. The defect manifested with developmental delay, muscle hypotonia, failure to thrive, ptosis, and varying lactic acidemia (up to 12 mmol/L) beginning from the neonatal period. A low-degree dilated cardiomyopathy of the left ventricle developed between the age of 1 and 2 y. A >90% decrease in oligomycin-sensitive ATPase activity and an 86% decrease in the content of the ATPase complex was found in muscle mitochondria. It was associated with a significant decrease of ADP-stimulated respiration of succinate (1.5-fold) and respiratory control with ADP (1.7-fold) in permeabilized muscle fibers, and with a slight decrease of the respiratory chain complex I and compensatory increase in the content of complexes III and IV. The same ATPase deficiency without an increase in respiratory chain complexes was found in fibroblasts, suggesting a generalized defect with tissue-specific manifestation. Absence of any mutations in mitochondrial ATP6 and ATP8 genes indicates a nuclear origin of the defect.
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PMID:Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. 1515 67

A 1-year-old healthy female Great Dane was referred for an echocardiographic examination prior to anesthesia and surgical correction of prolapse of the right third eyelid gland. Findings of a physical examination were normal. Conventional 2-dimensional and M-mode echocardiography revealed equivocal findings of dilated cardiomyopathy (DCM). Conversely, tissue Doppler imaging revealed a dramatic decrease in systolic and early diastolic radial myocardial velocity gradients, which were related to a decrease in endocardial velocities. Four months later, the diagnosis of DCM was confirmed via conventional echocardiography. In dogs with equivocal conventional echocardiographic findings of DCM, severe myocardial alterations may be detected via tissue Doppler imaging and this technique may enable early diagnosis of radial myocardial dysfunction.
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PMID:Use of tissue Doppler imaging to confirm the diagnosis of dilated cardiomyopathy in a dog with equivocal echocardiographic findings. 1564 37

We describe a four-generation family with a previously unreported form of congenital fiber-type disproportion that follows an X-linked inheritance pattern. Affected male family members have a striking pattern of weakness. From birth there is marked ptosis, facial weakness, poor sucking, hypotonia, respiratory weakness, and relatively preserved limb strength. Most affected male individuals die of respiratory failure within the first months of life. A mild dilated cardiomyopathy developed in infancy in the sole surviving affected male member of this family. Some carrier female individuals manifest milder signs. We have demonstrated linkage to two regions of the X chromosome, Xp22.13 to Xp11.4 and Xq13.1 to Xq22.1, with a maximum logarithm of odds score of 3.25 in the latter region. We propose that clinical clues can differentiate this disorder from other forms of congenital fiber-type disproportion so that affected families can receive appropriate genetic counseling.
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PMID:A novel X-linked form of congenital fiber-type disproportion. 1617 74


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