The new Ghent criteria for Marfan syndrome: what do they change?

The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well-known series of 1009 probands defined by the presence of an FBN1 mutation. A total of 842 patients could be classified as MFS according to the new nosology (83%) as compared to 894 (89%) according to the 1996 Ghent criteria. The remaining 17% would be classified as ectopia lentis syndrome (ELS), mitral valve prolapse syndrome or mitral valve, aorta, skeleton and skin (MASS) syndrome, or potential MFS in patients aged less than 20 years. Taking into account the median age at last follow-up (29 years), the possibility has to be considered that these patients would go on to develop classic MFS with time. Although the number of patients for a given diagnosis differed only slightly, the new nosology led to a different diagnosis in 15% of cases. Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation. The nosology is easier to apply because the systemic score is helpful to reach the diagnosis of MFS only in a minority of patients. Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up.

[Hormonal theory of heart failure with altered systolic function]. / Théorie hormonale de l'insuffisance cardiaque à fonction systolique altérée.

Heart failure (HF) is a major cause of morbidity and mortality in the developed countries. Hospital discharges and deaths from HF are regularly increasing. Therapies initially aimed at reversing hemodynamic abnormalities in HF, increasing cardiac output, decreasing intracardiac pressures, and blocking vasoconstriction. However, none of these therapies improved survival and some actually increased mortality. Now therapies for HF related to left ventricular systolic dysfunction have focused on counteracting compensatory neurohormonal activation. Several neurohormonal activations are present in HF supporting hemodynamics, but they appear to be deleterious in the long term on the myocardium, increasing progression of the HF and mortality. Blocking the renin-angiotensin-aldosterone system and the sympathetic system are now the mainstay of medical therapy in HF related to systolic dysfunction as they decrease mortality, hospitalisation rate and improve quality of life. Hence, the approach to patient with chronic heart failure should differ from that of patient with acute heart failure.

[Echocardiography in the catheterization unit]. / L'échocardiographie en salle de cathétérisme.

Non-coronary interventional cardiology has for about ten years been undergoing significant development, with the arrival of new percutaneous procedures in various domains. Some of them have already been well validated, notably percutaneous mitral comissurotomy, percutaneous closure of inter-atrial (IA) communications and patent foramen ovale, trans-septal catheterisation, and alcohol septal ablation of hypertrophic obstructive cardiomyopathy. Other interventional techniques are still in the validation phase, such as the techniques for percutaneous occlusion of the left atrium, percutaneous implantation of valvular prostheses, or the new approaches to percutaneous treatment of mitral valvulopathy. The rapid development of these techniques has benefited widely from the use of echocardiography in the catheter suite, providing a very precise clarification of the anatomy and continuous guidance during procedures. This echocardiographic guidance provides optimal results for the interventional procedure and reduces the incidence of complications.

[An exceptional etiology of left ventricular aneurysm: type AA amyloidosis]. / Une cause exceptionnelle d'anévrisme du ventricule gauche: l'amylose de type AA.

Left ventricular aneurysms most often occur in the course of myocardial infarction. In rare cases they can be detected when the coronary network is devoid of any lesions. The aetiology is therefore multiple and dependent on the context. One aetiology seems less exceptional and concerns idiopathic aneurysms encountered in the African population, where the role of a "debilitating condition" such as tuberculosis has been evoked. We report the case history of a young patient from Zaire with a left ventricular aneurysm discovered in association with ganglionic tuberculosis complicated by AA amyloidosis. Histological analysis allowed the aetiological diagnosis to be established. Aneurysmal dilatation of the left ventricle was reported in the presence of amyloid deposits at the intra-myocardial arteriole level, whereas the context suggested a tubercular role. In spite of the difficulty of establishing a precise aetiological diagnosis, there seems to exist a consensus for surgical management.

[Mobile right heart thrombus with minimal pulmonary embolism. A case report]. / Thrombus mobile intracavitaire droit associé à une embolie pulmonaire minime. A propos d'un cas.

The generalisation of the use of transthoracic echocardiography in the investigation of pulmonary embolism leads to the diagnosis of mobile right heart thrombus in about 5% of cases. A review of the literature shows that this association is mainly observed in clinically severe pulmonary embolism. The presence of a mobile right heart thrombus is associated with a poor prognosis and emergency treatment is based on thrombolytic therapy or surgical embolectomy. In minimal or infraclinical pulmonary embolism, the finding of a mobile right heart thrombus is rare and there is no consensus about its treatment. The authors report the case of a 61 year old man admitted to hospital for bilateral deep vein thrombosis with no symptoms of pulmonary embolism in whom investigations revealed a mobile right heart thrombus with minimal pulmonary embolism. The outcome was favourable with progressive resolution of the right heart thrombus with oral anticoagulation after three weeks of heparin therapy.