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An echocardiographic Study of 322 adults (age: 40 +/- 16 years), belonging to 20 families with hypertrophic cardiomyopathy (HCM), was undertaken. Affected subjects had a LV diastolic wall thickness > 13 mm. The patients were classified according to the distribution of left ventricular hypertrophy (LVH) and by Maron's classification: 189 subjects were normal, 127 were affected and 6 could not been classified. By Maron's classification: 3% were type I, 33% were type II, 58% were type III and 6% were type IV. LVH was asymmetrical in 95% of cases (septum/posterior wall ratio > 1.3). The familial distribution of LVH of the 4 families in which HCM was genetically related to different loci (chromosome 11, 14 exon 13, 14 exon 8, fifth locus); the LVH was analysed from two short axis LV parasternal views and each plane was divided into 5 segments. The distribution of LVH was said to be identical between two first degree relations when all the same segments were affected, similar when they differed by only 1 or 2 segments and different when they differed by 3 or more segments. In the 26 pairs studied, LVH was identical in 2/26 (8%), similar in 11/26 (42%) and different in 13/26 (50%). Familial HCM usually gives rise to asymmetrical LVH affecting the septum and free wall. An identical distribution in 50% of affected first degree relatives.

Hypertrophic cardiomyopathy is familial in about 50% of cases and is transmitted in the autosomal dominant mode. The first morbid gene implicated in the disease was the gene coding the beta myosin heavy chain (beta MHC) on chromosome 14. However, only 30% of families have this genetic abnormality. Recently, three new loci have been identified on chromosomes 1q3, 11p13-q13 and 15q2. In order to determine whether other genes could be implicated in the disease a linkage analysis study was performed in a West Indian family. The method is based on the analysis of the distribution of the disease in the family and the microsatellite markers. The microsatellites used were those which recognised the 4 loci previously mentioned and 4 new markers situated and arranged with respect to known microsatellites. The results show that in the family studied, the disease did not concord with the markers of the beta MHC gene or with those recognising the loci on chromosomes 1q3, 11p13-q13 and 15q2. There is, therefore, a fifth gene implicated in familial HCM. The heterogeneity of the disease seems even greater than originally thought.

Ventricular hypertrophy, the only indisputable phenotypical marker of hypertrophic cardiomyopathy, is the basis of the physiopathology and treatment of the disease. Mitral valve abnormalities are usually considered to be secondary to the hypertrophy but the genesis of systolic anterior motion by the Venturi effect has been questioned by many clinical and experimental observations. Abnormalities of the mitral valve apparatus may in themselves (elongation of the valves, antero-internal malposition of the mitral papillary muscles and/or hyperlaxicity of antero-internal corhdae tendinae) create systolic anterior motion or subaortic obstruction in the absence of septal hypertrophy and/or increased subaortic flow velocities. Anatomo-clinical studies have confirmed this hypothesis: a high prevalence of mitral valve disease (increased valvular surface and length) has been found in hypertrophic cardiomyopathy. The recognition of these abnormalities is of value from the therapeutic (mitral valvuloplasty) diagnostic (in borderline cases) and genetic (when the primary nature of the abnormalities is confirmed) points of view.

14 boys with pubertal gynecomastia, aged 9 to 16 years, were presented. Physical assessment, including pubertal maturation, height, weight, bone age, pubic hair stage, testicular and penis calibre and degree of gynecomastia was determined. Sexual steroids, LH-FSH, prolactin, were studied. All patients had psychological stress. 11 patients had been treated surgically by mastectomy with success.

Cardiac abscesses are observed in 20 to 30% of cases of infective endocarditis and in at least 60% of prosthetic valve endocarditis. The aortic valve ring is more frequently affected than the mitral valve ring. A cavity contiguous with a cardiac chamber forming a pseudo-aneurysm or a closed purulent collection, the abscess may extend to the neighbouring cardiac structures or to the ascending aorta. This extension may cause conduction defects, abnormal communications between the cardiac chambers, pericardial disease and, exceptionally, myocardial ischaemia, complications which are clinical signs of abscess formation in patients with infective endocarditis. The presence of a cardiac abscess is a poor prognostic factor in infective endocarditis. The diagnosis must be made at an early stage when surgical treatment is optimal. The most valuable investigation is transoesophageal echocardiography with a sensitivity of over 80% and a specificity of about 95%. This investigation has become practically routine in all patients with endocarditis in order to diagnose abscesses at an early stage, especially in cases of aortic or prosthetic valve endocarditis. Information about the site, size and extension of the abscess may be obtained and existing or potential complications may be envisaged with a view to surgery. Other imaging diagnostic techniques, such as angiography, CT scanning and nuclear magnetic resonance imaging have a number of disadvantages and are not more sensitive than transoesophageal echocardiography. Surgical techniques depend on the site and extension of the abscess. They are sutured or closed with dacron or pericardial patches after having been cleaned and filled with formulated resorcin glue. The valvular prosthesis is inserted either in anatomical position or in a sub or supracoronary dacron tube necessitated by the perivalvular extension of the infectious lesions. These complex procedures may require associated coronary reimplantation or revascularisation when the coronary ostia are affected. The highest operative mortality is observed in prosthetic valve endocarditis with abscess and extra-annular prosthetic implants. The risk of secondary valvular dehiscence, often recurrent, is much higher when there is an abscess at operation. Extracardiac abscesses in cases of infective endocarditis are mainly observed in the cerebral and/or splenic territories. They may become the main problem, especially cerebral abscesses, but they rarely require surgery.

The role of endothelin, a powerful vasoconstrictor, was studied in coronary spasm. A methylergonovine stress test was performed in patients with normal coronary angiography. Patients who developed spasm (Group I, n = 6) were compared with those who did not (Group II, n = 6). Plasma endothelin was measured at 8, 11 a.m., 2 p.m., 4, 7, 9, 11 p.m. and 1 a.m. The stress test was carried out at 17 hours and an additional endothelin measurement was performed during spasm in positive cases. The clinical characteristics of the two groups were comparable especially with regards to cardiovascular risk factors. Except for the value recorded during coronary spasm, the plasma endothelin levels were significantly higher in the group with coronary spasm. A time-dependent variation was observed in both groups with higher endothelin levels in the morning. In group I the plasma endothelin levels were higher under basal conditions and during spasm in patients with spastic angina.

The authors studied the responses of the main systems of sympathetic and hormonal regulation in valvular aortic stenosis, a special model of dissociation between arterial pressure and left ventricular function. The series comprised 14 patients with an average age of 70 +/- 9 years without diuretic therapy presenting with pure calcific aortic stenosis without other valvular or coronary disease. All were in sinus rhythm; 5 were taking an angiotensin converting enzyme inhibitor. Plasma concentrations of endothelin 1, atrial natriuretic factor (ANF), arginine vasopressin (AVP), catecholamines, plasma renin activity (PRA), angiotensin II and aldosterone were measured in resting, fasting patients, by blood samplings from a peripheral vein immediately before cardiac catheterisation. The results were compared with the severity of the aortic stenosis (aortic valve area greater or less than 0.7 cm2), the ratio of left ventricular work/myocardial mass (greater or less than 0.6) and treatment (with or without ACE inhibitors). Catecholamine levels were much higher in severe aortic stenosis (noradrenaline: 579 +/- 66 pg/ml when valve surface area > 0.7 cm2 versus 900 +/- 92 pg/ml when valve surface area < 0.7 cm2; p < 0.01). Endothelin -1 and AVP concentrations were normal. Whereas PRA was normal, aldosterone levels were increased in patients without treatment by ACE inhibitors. This treatment did not, however, normalise the noradrenaline levels. The increase in ANF concentration was large when left ventricular work decreased with respect to myocardial mass (190.8 +/- 42.3 pg/ml if W/M was decreased versus 82.7 +/- 15.4 pg/ml when W/M was normal): this could be related to the degree of left ventricular hypertrophy.

A French multicentre study of hypertrophic cardiomyopathy has recruited 260 subjects belonging to 18 families. At least 3 persons from each family included had a hypertrophic cardiomyopathy. A Doppler echocardiographic examination was performed in all members of these 18 families. The diagnosis of hypertrophic cardiomyopathy was based on M mode and/or 2D observations of parietal hypertrophy: wall thickness over 13 mm. Asymmetrical forms were distinguished from symmetrical forms by a septum/posterior wall ratio of over 1.3 in M mode or 2D study. The patients had an average age of 40 +/- 18 years, 127 were men and 133 women. One hundred and sixty eight were considered to be normal, 87 had hypertrophic cardiomyopathy and 5 were border line. The maximal diastolic wall thickness on M mode recording of pathological cases was 19.2 +/- 4.8 mm compared with 9.5 +/- 1.9 mm in healthy subjects (p < 0.001). The septum/posterior wall ratio was 1.8 +/- 0.62 in pathological cases and 1.1 +/- 0.8 in normal ones (p < 0.001). Eighty five per cent of the cardiomyopathic cases were asymmetrical (74/87) and only 15% were considered to be symmetrical (13/87) on M mode study whereas 5% were concentric on 2D echocardiography. By Maron's classification, type I hypertrophy was observed in 6% of cases (4/64), type II in 30% (19/64), type III in 58% (37/64), and type IV in 6% (4/64). Signs of obstruction were looked for and systolic anterior motion of the mitral valve was observed in 52% of pathological cases (45/86) and mid-systolic aortic valve closure in 30% (25/83).(ABSTRACT TRUNCATED AT 250 WORDS)

The atrial natriuretic factor is a peptide with vasodilator and natriuretic properties which is synthesized and released by atrial myocytes. In patients with chronic heart failure the ventricles contribute to the synthesis of this peptide, so that its plasma concentration rises in proportion to the heart filling pressure. The atrial natriuretic factor, therefore, seems to be a good biological marker of functional and haemodynamic severity of heart failure. However, the weight of this factor in the neuro-hormonal balance has not yet been fully evaluated, owing to the usual attenuation of its biological effects. This, and the necessity of continuous parenteral administration limits, for the moment, its therapeutic applications. Inhibitors of the enzyme involved in its metabolism are being tested, but only preliminary results are available in humans.

Ten patients with complete or incomplete androgens insensitivity syndrome (A.I.S.) is reported. Diagnosis of A.I.S. is presented on the basis: clinical, phenotype, studies of sexual steroids specially androgens, gonadotropins, 5-alpha-reductase activity and possible abnormality of androgen target cells from the genital skin. Histology of the testes is shown. Surgical treatment of these patients is reported, depending of the abnormality of the genitalia.

The authors report a case of calcific embolization after percutaneous mitral valvuloplasty. The nature of the embolism was confirmed by anatomopathological examination after popliteal embolectomy. This complication would appear to be extremely rare but represents an additional risk in patients with calcific mitral stenosis.

The results of several studies, mostly without controls, have suggested that betablockers, administered at progressively increasing doses, may be beneficial in cardiac failure. Based on this hypothesis, betablockers with a peripheral vasodilator effect, such as Nebivolol, could be particularly valuable in this indication. A preliminary study of its tolerance, haemodynamic and neurohormonal effects was carried out with a noninvasive methodology in 12 patients with cardiac failure in sinus rhythm, 8 men and 4 women (average age 53 +/- 12 years), all of whom had Class III or IV symptoms according to the NYHA Classification. The protocol had 2 phases: the first was an open phase during which Nebivolol was administered at a dose of 1 mg/day for 48 hours then 2.5 mg/day for 72 h. In the second phase, the patients were randomly separated into 2 groups, one to receive placebo and the other 2.5 mg for one week then 5 mg of Nebivolol for the 5 remaining weeks. The heart rate decreased significantly from 70 +/- 3 to 63 +/- 4 beats/min (p < 0.01) with Nebivolol 1 mg/day without further slowing at the 2.5 mg dosage. During the randomised phase, the heart rate remained stable in the Nebivolol group but increased to its initial value in the group given placebo. No aggravation of symptoms was observed in the Nebivolol group. No significant changes in cardiac output, parameters of cardiac loading or contractility could be demonstrated after 6 weeks' treatment. During submaximal exercise testing, plasma concentrations of catecholamines and atrial natriuretic factor tended to be higher with Nebivolol than with placebo.(ABSTRACT TRUNCATED AT 250 WORDS)

Nitrate derivatives are venous vasodilators which are effective in reducing the symptoms of pulmonary congestion. The beneficial action on exercise capacity was recently demonstrated in the Veterans II Study in association with Hydralazine and has also been suggested by other trials. The reduction in mortality from cardiac failure was demonstrated in the Veterans I Study in association with Hydralazine compared to conventional digitalo-diuretic therapy but seems less important than that obtained by angiotensin converting enzyme inhibitors. The phenomenon of tolerance seems to be related to the use of high doses in continuous therapy and may be countered by discontinuous use of the drug during the 24 hour period. Tolerance seems to be related to neuro-hormonal factors and perhaps to depletion of SH groups. Simultaneous use of nitrates and ACE inhibitors seems to be an interesting therapeutic concept.

The atrial natriuretic factor (ANF) is a vasodilating and natriuretic peptide. In experimental and human cardiac failure, plasma ANF concentrations are increased. The ANF is a good marker of functional and haemodynamic severity and of the prognosis of cardiac failure. In this syndrome, messenger RNA of ANF is expressed not only in the atria but also in the ventricles which also secrete the peptide. Attenuation of the natriuretic response is observed in cardiac failure. It may be related to an abnormality situated after the receptor and second messenger, cyclic GMP and/or the reduction of renal perfusion pressure which occurs in cardiac failure. The therapeutic perspectives of ANF in cardiac failure are limited by the necessity of continuous intravenous or parenteral administration. Inhibitors of the enzyme degrading the peptide, neutral endopeptidase, are under evaluation in clinical trials which are at a preliminary stage for the moment.

The demonstration of a cardiac source of systemic embolism in patients who have suffered a cerebral ischemic event may have important therapeutic implications. This explains the large demand for echocardiography and Holter monitoring in these patients. The frequency of cerebral embolism of cardiac origin, the simplification of the diagnostic approach by non-invasive investigations and the precision of ultrasound techniques explains the tendency towards the indiscriminate generalisation of this attitude. However, the large number of potential patients for investigation, the limited facilities of investigation and the incertitude over the responsibility of certain cardiac abnormalities with respect to the context and age, are arguments in favour of a more selective investigative approach. The keystone of diagnosis is careful history taking and clinical examination with interpretation of the ECG and chest X-ray. Three clinical situations may then be identified: 1) A cardiac abnormality known to be highly embolic is diagnosed from the outset (e.g. mitral stenosis, valve prosthesis, endocarditis, myocardial infarction). The diagnostic work-up is no longer etiological: echocardiography may show intracardiac thrombi or a valvular vegetation, reinforcing the causal relationship, but the complementary investigations are mainly useful for evaluation the cardiac disease and for deciding on curative or preventive therapy. 2) A cardiac abnormality is diagnosed but its responsibility is doubtful due to its high prevalence and low embolic potential. This is the case of patients with mitral valve prolapse, mitral annular calcification, calcific aortic stenosis and VVI pacing. Complementary investigations are not discriminative for the etiological diagnosis of the cerebral embolism.(ABSTRACT TRUNCATED AT 250 WORDS)

Tolerance to treatment with nitrate derivatives, suspected for many years and often ignored in everyday clinical practice, has recently been the subject of much study. Although the phenomenon has been clearly demonstrated in patients on long-term therapy, it seems to vary from patient to patient, with the underlying pathology and the galenic form of nitrate used. The mechanism of tolerance to nitrates is multifactorial, related on the one hand to depletion of sulfhydryl groups in the body and on the other to activation of the sympathetic and renin-angiotensin systems. The administration of sulfhydryl groups in the form of N-acetylcysteine partially restores the effects of nitrates in some patients.

The important technical advances in the last few years in the field of ultrasonic imaging and Doppler velocimetry now enable an accurate evaluation of the vasomotricity, blood flow and compliance of the large peripheral arteries. The information provided by these new non-invasive techniques in clinical pharmacology is considerable as they make possible repeated measurements of different parameters of regional circulation (diameters, flow, pulse wave velocity and modulus of elasticity) and the assessment of the efforts of different vasoactive drugs on these values. Some limitations are nevertheless inherent to the non-invasive nature of the examination.

In this retrospective study the antiarrhythmic of 85 patients suffering from sustained and recurrent attacks of ventricular tachycardia is analysed. Among these patients, 48 had ischaemic heart disease, 18 had right ventricular arrhythmogenic dysplasia, 9 had dilated cardiomyopathy and 2 had complex heart disease; in 8 patients the tachycardia was idiopathic. Two hundred and seventy-two antiarrhythmic treatments administered orally alone or in combination were studied. Their effectiveness was evaluated on the clinical course of the disease, on the résults of Holter recordings and, in some cases, on electrophysiological exploration. The mean follow-up period was 50 months. Each patient received 3.2 antiarrhythmic treatments on average. The effectiveness and side-effects of these treatments are analysed retrospectively, but the relative effectiveness of a treatment compared to another cannot be extrapolated to a new patient. Prescription in this field is purely empirical. The recent amiodarone-flecainide combination has been the most frequently used antiarrhythmic treatment in recent years. It was given to 33 patients in this series and proved effective in 21 patients followed up for 22 months.

In mild hypertension, a betablocker treatment could reduce cardiovascular events. But in smoking men the benefit disappears and this interaction is unexplained. In 6 healthy non smoking men, we studied the effects of acute oral administration of propranolol (80 mg) pindolol (15 mg) and placebo after cigarette smoking (CS) (two cigarettes within 10 minutes). In a double blind cross over randomized study, arterial pressure and heart rate (HR) were recorded within 20 minutes after CS. Brachial artery diameter (D), Local vascular Resistance (RL), Local arterial Compliance (CL) and pulse wave velocity (VOP) were determined non invasively (using a pulsed doppler system) before and 20 mn after CS. Under placebo, mean arterial pressure (PAM), HR and RL increased significantly after CS (+9.2 +/- 3 mmHg, +4.5 +/- 3 b/mn and +36 +/- 14 per cent, respectively). These modifications were not different after propranolol, pindolol or placebo (ANOVA). Arterial distensibility (CL) was decreased after CS and this alteration was not prevented by beta-blockers. Brachial artery diameter was not modified after CS. Our results demonstrate that acute treatment with non selective beta-blockers with or without sympathomimetic intrinsic activity does not prevent haemodynamic modifications induced by cigarette smoking.

A noninvasive evaluation of the aortic arch diameter was performed in 16 subjects with sustained essential hypertension and in 15 normal subjects of similar age, gender and body surface area. In all subjects, measurements were obtained of brachial mean arterial pressure and pulse pressure, cardiac mass (judged on echocardiography) and carotid-femoral pulse wave velocity together with ultrasound determinations of aortic arch diastolic and systolic diameter (suprasternal window). For each subject, pulsatile change in aortic diameter, strain and aortic arch elastic modulus were calculated. Compared with normal subjects, the hypertensive subjects showed an increase in aortic arch diameter (diastolic diameter 29.6 +/- 1.0 versus 25.4 +/- 1.0 mm, p less than 0.01), in elastic modulus (1.071 +/- 0.131 versus 0.526 +/- 0.045 10(5) N.m-2, p less than 0.001) and pulse wave velocity (11.8 +/- 0.5 versus 8.9 +/- 0.3 m/s, p less than 0.001). In the study group, a positive correlation was observed between diastolic aortic arch diameter and mean arterial pressure (r = 0.54, p less than 0.01) and between elastic modulus and cardiac mass (r = 0.60, p less than 0.01). Elastic modulus and age were positively correlated (r = 0.73, p less than 0.01) in hypertensive but not in normal subjects (r = 0.08, NS). This study is the first to demonstrate noninvasively that both the aortic arch diameter and the elastic modulus are increased in patients with sustained uncomplicated essential hypertension. These findings suggest that the increase in elastic modulus could influence the development of cardiac hypertrophy, and that both age and blood pressure act independently as factors that alter the arterial wall of subjects with sustained essential hypertension.

For the first time in Spain, authors report the experience, started by the Hospital Infantil "Valle de Hebron" of Barcelona on pediatric liver transplant in terminal liver disease in childhood which means a new opportunity for these patients otherwise facing a fatal out come in a short time. We show the 4 first pediatric liver transplants performed in our country and we point out some of the most important factors of a pediatric liver transplant program in a consolidation phase.