[Three recurrent episodes of Tako-Tsubo cardiomyopathy precipitated by an emotional stressful event: a case report]. / Trois épisodes récurrents de Tako-Tsubo secondaires à un choc émotionnel : à propos d'un cas clinique.

Tako-Tsubo cardiomyopathy, first described in 1990 by Sato in Japan, has recently gained increasing consideration when reported in non-Japanese patients, including the United States and Europe. Typical presentation mimics acute coronary syndrome, with acute chest pain and/or dyspnoea, associated to electrocardiographic changes and moderate cardiac biomarkers release, but in which coronary angiography reveals no coronary arteries lesions and echocardiography or left ventriculography shows a reversible left ventricle systolic dysfunction. Prognosis is good, in contrast to acute coronary syndrome, provided that the patients survive the possible life-threatening acute presentation, with correction of the left ventricle systolic dysfunction within several days or weeks. As noted in several reviews, 3.5% to 10% of the patients have a recurrence during the first few years after the initial presentation. Here, we described a case of a 60-year-old female who had three episodes of Tako-Tsubo always preceded by severe emotional stress suggesting a potential common etiopathogenesis.

[Myocarditis]. / Myocardites.

Myocarditis is an inflammatory disease of the myocardium associated with cardiac dysfunction. Etiologies of myocarditis are numerous - viral causes being the most frequent - as well as their clinical presentations which varies from isolated increase in cardiac enzymes during a viral pericarditis, fulminant myocarditis associated with cardiogenic shock to endomyocardial biopsy proven inflammation discovered during the etiologic diagnosis of a dilated cardiomyopathy. This article will discuss the importance of recognition of specific clinical scenarios of myocarditis and their echocardiographic presentations that are very useful for the etiologic diagnosis and to decide the medical strategy. Recent advances in the field of myocarditis concern improvement in understanding the pathophysiology, in the diagnostic approach with the use of noninvasive imaging (MRI) and molecular biology. However, specific treatment is still limited. Clinical trials with antiviral medications are not conclusive, and the medical strategies remain mainly based on the symptomatic treatment of heart failure.

[Genetic aspects of valvulopathies]. / Aspects Génétiques des Valvulopathies.

Valvular dystrophies due to myxoid degeneration are common and potentially serious cardiac pathologies. They constitute a heterogeneous group of which the most usual is idiopathic mitral valvular prolapse (Barlow's disease). The majority of mitral valvular prolapses are sporadic, but there are several familial forms. Transmission is usually autosomal dominant with incomplete penetrance and variable expression. The first chromosomal location to be identified was on the 16p11-13 chromosome. Since then, two other loci have been identified on the 11p15.4 and 13q31-32 chromosomes. Our team has recently identified the first gene responsible for myxoid valvulopathy linked to the X chromosome, from a large family of 318 members. This is the gene that codes for filamin A, which is a cytoskeleton protein. The frequency of mutations in this gene is still unknown, but out of 7 families in which transmission was compatible with X-linked transmission, mutations were discovered in 4 of the families. Thanks to a genetic epidemiological approach, we have also demonstrated that there are familial forms of aortic stenosis, which are probably common. Identification of the genes implicated in these common forms of valvular pathology is important, as it will allow a better understanding of the pathophysiology of these valvular disorders and could lead to better therapeutic management in the future.

[A rare cause of myocardial infarction: papillary fibroelastoma of the aortic valve]. / Cause rare d'infarctus du myocarde: le fibro-élastome papillaire de la valve aortique.

Papillary fibroelastoma is a rare, benign endocardial tumour usually located on the cardiac valves. Before echocardiography, these tumours were chance findings either at surgery or at autopsy. With the advent of echocardiography, the diagnosis has become commoner and they are often the cause of systemic embolism justifying surgical ablation. In this case, an aortic valve papillary fibroelastoma presented with myocardial infarction in a 78 year old woman with normal coronary angiography. The diagnosis was strongly suspected at echocardiography and confirmed by histological analysis of the surgically excised tumour.

[Hypertrophic cardiomyopathy. Long-term clinical development in a regional cohort of 243 patients]. / Cardiomyopathie hypertrophique. Evolution clinique à long terme d'une cohorte régionale de 243 patients.

This retrospective study was undertaken to assess the long-term clinical outcome of hypertrophic cardiomyopathy (HCM) in a regional cohort of 243 patients aged 40.4 years on average at the time of diagnosis and followed up for 12.3 +/- 8.1 years. Forty-one deaths were recorded during the follow-up period directly related to HCM (including 20 sudden deaths and 17 deaths due to cardiac failure), an annual cardiac mortality rate of 1.37%. In multivariate analysis, two factors were associated with extra mortality: occurrence of the first symptoms before the age of 20 (RR x 2.35) (p = 0.006) and NYHA functional classes III: IV at the latest clinical assessment (p = 0.005). The risk of sudden death increased significantly with septal wall thickness: RR x 2.34 (p = 0.05), RR x 3.27 (p = 0.007) and RR x 3.67 (p = 0.02) respectively, for septal thickness equal to or greater than 25, 30 and 35 mm. Eighty-three patients (34%) had major cardiovascular events (sudden death, congestive cardiac failure, cerebrovascular accident) during follow-up. However, at the latest clinical assessment, 79% were relatively unaffected by their disease, without treatment (12%) or with drug therapy alone (60%). In a minority of patients (28%) a more aggressive therapeutic approach was necessary: cardiac pacing (N = 48), implantable cardiac defibrillators (N = 2) myomectomy (N = 27) or cardiac transplantation (N = 6). The authors conclude that HCM is a complex disease, less serious than initially thought in the majority of patients, but the cause of major cardiovascular events and premature deaths which still remain difficult to prevent.

[Can one die of sorrow?]. / Peut-on mourir de chagrin?

The authors report the case of a 49 year old woman who, on two occasions four years apart, presented with cardiogenic shock following the same type of intense emotional stress. Acute left ventricular systolic dysfunction in the initial phase regressed completely with drugs. A diagnostic investigation excluded atheromatous coronary artery disease, myocarditis and pheochromocytoma. Two hypotheses remained: prolonged coronary spasm causing myocardial stunning or acute catecholaminergic cardiomyopathy secondary to the stress.

Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.

OBJECTIVES: The purpose of this study was to describe the phenotypic characteristics of an inherited myxomatous valvular dystrophy mapped to Xq28. BACKGROUND: Myxomatous valve dystrophies are a frequent cause of valvular diseases, the most common being idiopathic mitral valve prolapse. They form a group of heterogeneous diseases difficult to subclassify. The first mapping of the gene for a myxoid valvular dystrophy to Xq28 allowed investigation of the phenotype of affected members in a large family and characterization of the disease. METHODS: Among the 318 members in the pedigree, 89 agreed to participate in this study. Phenotypic characteristics were investigated using clinical examination, transthoracic echocardiography and biological analysis (F.VIII activity). Genetic status was based on haplotype analysis. RESULTS: Among 46 males, 9 were hemizygous to the mutant allele and had an obvious mitral and/or aortic myxomatous valve defect, and 4 had undergone valvular surgery. All had typical mitral valve prolapse associated in six cases with moderate to severe aortic regurgitation. The valve defect cosegregated with mild hemophilia A (F.VIII activity = 0.32 +/- 0.05). The 37 remaining males had normal valves and normal F.VIII activity. Heterozygous women were identified on the basis of their haplotypes. Among the 17 women heterozygous to the mutant allele, moderate mitral regurgitation was present in 8, associated with mild mitral valve prolapse in 1 and aortic regurgitation in 3, whereas 2 women had isolated mild aortic regurgitant murmur. In heterozygotes, the penetrance value was 0.60 but increased with age. CONCLUSION: X-linked myxomatous valvular disease is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. The first localization of a gene for myxomatous valvular diseases is the first step for the subclassification of these diseases.