[Marfan syndrome]. / Syndrome de Marfan.

Marfan's syndrome is a monogenetic disease with an autosomal dominant transmission generally accompanied by type I fibrillin abnormality. This widely-distributed molecule participates in the structure of connective tissues so that any aberration may result in disease of many systems: skeletal morphology, dislocation of the lens, neurological or cutaneous signs and dilatation of the aorta predisposing to dissection, mitral valve prolapse being a common association. The diagnosis, clinical because of the size of the culprit gene and the multiplicity of the possible mutations, is sometimes difficult, and diagnostic criteria have been proposed. It is important to make the diagnosis because treatment is based on the restriction of violent exercise, betablocker therapy and regular echocardiographic monitoring of the ascending aorta, the region at highest risk of dilatation and dissection. A family enquiry is essential to make the diagnosis before the onset of complications in pauci-symptomatic patients (great intra-familial variability). Pregnancy poses special problems in these patients.

[Papillary fibroelastoma: a rare but treatable cause of cerebral infarction]. / Le fibroélastome papillaire: une cause rare mais curable d'infarctus cérébral.

INTRODUCTION: Papillary fibroelastoma is a benign cardiac tumor which can be associated with serious embolic complications. EXEGESIS: We report on a 42-year-old man admitted for an ischemic stroke in the left middle cerebral artery region. Transesophageal echocardiography revealed a mitral valve tumor. Surgical excision and histological examination showed a papillary fibroelastoma. Clinical course was uneventful. CONCLUSION: We consider the high embolic potential of this tumor, which represents a surgically treatable cause of ischemic stroke.

Evidence of cardiac myolysis in severe nonischemic heart failure and the potential role of increased wall strain.

BACKGROUND: Myocyte death could play a role in heart failure (HF) irrespective of the presence of coronary artery disease. The study aimed to assess this hypothesis by use of the cardiac troponin I (cTnI) assay. METHODS AND RESULTS: Seventy-one patients with nonischemic HF, New York Heart Association (NYHA) class II-IV, with a normal coronary angiogram and after exclusion of myocardiopathies were evaluated in the study. The control group included 9 healthy subjects and 15 patients hospitalized for severe noncardiac dyspnea. Cardiac TnI concentrations were determined at admission with a research reagent (cTnIus) characterized by a detection limit of 0.026 ng/mL and a high analytic sensitivity of 0.002 ng/mL. cTnIus levels were more than 0.026 ng/mL in 19 HF patients, ranging between 0.027 and 0.463 ng/mL, whereas no cTnIus level was detectable in the control group. With use of a reference assay, only 2 HF patients had abnormal cTnI values. Severe HF was observed in 17 of these 19 patients, assessed by NYHA class IV or by the presence of pulmonary edema. Patients with an increased cTnIus level had a more restrictive mitral Doppler pattern (P <.001) and a more distinctive left ventricular (LV) concentric remodeling (P <.0001), whereas LV ejection fraction was similar in both HF groups. The increased cTnIus level was also associated with a LV wall strain biologic marker (ie, an increased brain natriuretic peptide plasma level) (P <.001). CONCLUSIONS: cTnI assay is a promising biochemical method for detecting cardiac myolysis in HF, independent of the presence of coronary artery disease. This subtle myolysis could be in part related to the severely increased LV wall strain.

[Dystrophic aortic insufficiency]. / Insuffisance aortique dystrophique.

Dystrophic aortic regurgitation is the result of 2 diseases: (1) aortic regurgitation, consequence of (2) aortic dilatation due to decreased aortic wall resistance. Marfan syndrome, which is a genetic disease, should be looked for systematically, with the help of an ophthalmologist and a rheumatologist. Aortic dilation is responsible for the increased mortality because of aortic dissection. Diagnosis is often made when the aorta is dilated wheras the aortic regurgitation is minimal or moderate; when the patient is asymptomatic. This has 2 consequences: siblings of Marfan patient should be examined by echocardiography; surgical replacement of the ascending aorta is often performed because of the aortic dilation, not because of the aortic regurgitation.

Comparison of the prognostic value of left ventricular filling and peak oxygen uptake in patients with systolic heart failure.

AIM: The aim of this prospective study was to compare the prognostic value of the mitral inflow pattern and peak oxygen uptake in patients with systolic heart failure. BACKGROUND: Peak oxygen uptake is a major prognostic parameter in heart failure. It is not known whether a restrictive mitral inflow pattern has similar prognostic value. METHODS: One hundred heart failure patients (ejection fraction <45%) underwent exercise testing after Doppler evaluation; prognosis was assessed after a mean follow-up of 17 months. RESULTS: The ejection fraction was larger in group 1 (non-restrictive pattern: E/A mitral wave ratio <1 or between 1 and 2 with E wave deceleration time >/=140 ms, n=45) than in group 2 (restrictive pattern: E/A ratio >2 or between 1 and 2 with E deceleration time <140 ms, n=40) (29+/-9 vs 22+/-10%, P<0.05). Peak oxygen uptake was lower in group 2 (17+/-4 vs 22+/-5 ml. min(-1). kg(-1)57+/-11 vs 75+/-15% of predicted values;P<0.05 for both comparisons). Univariate analysis showed that the deceleration time (r=0.65), E/A ratio (r=-0.50) and heart rate increment (r=0.47) correlated best with peak oxygen uptake. A third group of patients with persistent fusion of the E and A waves (n=15) had exercise responses similar to those of group 2 patients. A short deceleration time (P=0.006), a restrictive or a fusion pattern (P=0.04) were associated with a poor outcome; the prognostic value of these Doppler variables was greater than that of ejection fraction, but remained less than peak oxygen uptake indexed by predicted values (P=0.0004). CONCLUSION: The left ventricular filling pattern is a strong predictor of exercise capacity, and outcome, in patients with systolic heart failure and is independent of the left ventricular ejection fraction. Peak oxygen uptake remains a more powerful prognostic variable.

[Brain natriuretic peptide (BNP) in coronary insufficiency: relationship with left ventricular filling and exercise tolerance]. / Brain natriuretic peptide (BNP) dans l'insuffisance cardiaque: relations avec le remplissage ventriculaire gauche et la tolérance à l'effort.

Brain natriuretic peptide (BNP) is a recently discovered peptide, secreted by the atria and ventricles in response to parietal distension. It was recently proposed as a screening test for left ventricular failure. The authors assayed this peptide at rest in 37 patients with chronic heart failure due to left ventricular systolic dysfunction and another 20 patients with various diseases (respiratory failure, cirrhosis, heart transplantation, "diastolic" heart failure) but normal left ventricular systolic function. A significant increase compared to normal values was observed not only in the group of heart failure patients, but also in patients with all other diseases. BNP was significantly higher in NYHA class IV patients. The relationship between plasma BNP levels and ejection fraction was not significant. On the other hand, a good correlation was observed between BNP and left ventricular filling parameters evaluated by cardiac Doppler: E wave deceleration time (r = -0.53, p = 0.001), E/A ratio: r = 0.57 p = 0.005) or VO2 max (r = -0.55, p < 0.005).

[Use of carvedilol in daily practice]. / Utilisation du carvedilol en pratique quotidienne.

Studies conducted over recent years have definitively confirmed beta-blockers as the major treatment for heart failure. However, they are difficult to use and, to date, only carvedilol has been granted a Marketing Authorisation for this indication. The practical aspects of treatment with carvedilol in these patients are reviewed.

[Prevention of heart failure]. / Prévention de l'insuffisance cardiaque.

Heart failure is a major problem of public health, associated with poor outcome in the advanced stage, thus justifying its prevention. Primary prevention is based on the prevention and treatment of its principal etiologic factors, hypertension and coronary artery disease. Broad use of echocardiography or dosage of neurohormonal markers improve detection of asymptomatic left ventricular dysfunction. In ischemic heart disease, coronary recanalisation prevents or limits left ventricular remodeling and dysfunction, even if the "open artery" theory has not been entirely proved. Understanding the deleterous role of neurohormonal stimulation results in a large use of ACE-inhibitors, which beneficial effect has been demonstrated also in case of asymptomatic left ventricular dysfunction. Betablockers, already largely used after myocardial infarction, seem to have also a beneficial effect in heart failure: the same is probably also true for angiotensin II-antagonists. Double blocking of both the sympathetic nervous system and the angiotensin-aldosterone system seems to be recommended. More precisely understanding the pathways signaling the processes of ventricular remodeling and dysfunction points to new potential targets for a preventive treatment: endothelin receptors, apoptosis, oxidative stress, cytokines or even angiogenesis.