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Hereditary cardiomyopathy is a primitive disorder in which the heart muscle is structurally and functionally abnormal in the absence of any other cause of cardiomyopathy. They are separated into four phenotypic groups, hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic cardiomyopathy of the right ventricle. Hypertrophic cardiomyopathy was the first identified at the molecular level and then the first to benefit of molecular testing. The molecular analyses were then extended the following years to the dilated cardiomyopathy and restrictive cardiomyopathy. The arrhythmogenic right ventricular cardiomyopathy was the latest to be analyzed at the molecular level because the identification of genes involved in that phenotype was published only in 2002 to 2006. The genetics analysis of these diseases has developed over the past decade and, although still complex, is now available in current hospital practice. The objectives of these tests are to confirm a diagnosis difficult to achieve by classic clinical approach and to perform predictive and presymptomatic diagnosis in families when the mutation was identified. This allows for appropriate care of patients at risk, and may respond to a request for prenatal diagnosis in particularly serious forms. These tests are framed in the context of genetic counselling consultation and patients are the subjects of a multidisciplinary care in reference centres., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)

Restrictive cardiomyopathies are characterized by diastolic dysfunction while systolic function is usually preserved. MRI is helpful by its ability to characterize tissues, especially the demonstration of interstitial or nodular fibrosis based on the underlying etiology. In the presence of constrictive pericarditis from pericardial inflammation, fibrosis or calcifications, diastolic expansion is impaired resulting in poor diastolic ventricular filling, resulting in a characteristic type of diastolic impairment, adiastole. MRI can demonstrate the underlying anatomical lesion: pericardial thickening, though the presence of a pericardium or normal thickness does not entirely exclude the possibility of constriction. As such, the presence of additional imaging features such as abnormal right ventricular shape, vena cava dilatation, and paradoxical movement of the intraventricular septum, during operator-guided deep respiration.

The diagnosis of constrictive pericarditis is not easy to make. This rare condition can be suggested by clinical, echocardiograohic, hemodynamic, and radiological signs. It must be distinguished from restrictive cardiomyopathy as therapeutic options are radically different. We present an ambiguous case of constrictive pericarditis with macroscopically normal pericardium recognized 10 years after open-chest cardiac surgery: a large pericardiectomy rapidly induced clinical improvement.

Introduction: Amyloidosis is often difficult to diagnose and cardiac involvement worsens the prognosis., Clinical Case: We report the case of a 72-year old man consulting for cardiac failure with pleural effusion. A restrictive cardiomyopathy was discovered by echocardiography, and amyloidosis was then suspected. First histological localization was pleural. Cardiac involvement was confirmed. The diagnosis was supported by digestive and cutaneous localizations. It was an AL amyloidosis. Treatment with melphalan and dexamethasone allowed stabilization during more than six months., Discussion: This is an original case report, because of the first clinical signs (cardiac failure), the histological proof (pleural histology). Echocardiography is particularly helpful in internal medicine.

We report the case of a 42 years woman known to have a cardiac heart failure attributed to restrictive cardiomyopathy for want of any other plausible diagnosis. Evolution and repeted investigations finally permitted to rectify the diagnosis by revealing a constrictive pericarditis, remained occult 9 years during. The differentiation of restrictive cardiomyopathy and constrictive pericarditis has been a perennial problem in clinical cardiology. Diagnosis of constrictive pericarditis is based on associated signs sometimes too poor to go straight to thoracotomy. We discuss the mean to approach more precisely this uncommon pattern named occult constrictive pericarditis.

Cardiomyopathies include a wide variety of cardiac diseases. The value of MR imaging is not only to provide information about cardiac function, but also to detect the underlying cause of the disease.

These heart muscle diseases, associated with systolic or diastolic dysfunction, are associated with a high prevalence and morbidity, because of the frequent evolution towards congestive heart failure or sudden death. Dilated cardiomyopathy is the first cause of heart transplantation and Hypertrophic cardiomyopathy is the first cause of sudden death in athletes. Familial and monogenic forms of these diseases are frequent and this should lead to a systematic cardiological familial inquest in first degree relatives of a patient. Although they were previously called as "idiopathic", the pathophysiology of the disease is actually under investigation thanks to molecular genetics. This completely new knowledge should lead to the development of new therapeutic strategies.

Cardiac amyloidosis is expressed as a restrictive myocardiopathy. Echocardiography suggests the diagnosis. There is a great difference between the prognosis of senile cardiac amyloidosis and "AL" amyloidosis. We illustrate this point with two case reports.

Restrictive cardiomyopathies are the rarest forms of cardiomyopathy. They are characterised by restrictive filling and reduction in diastolic volume of one or both ventricles with normal wall thickness and systolic function. Increased interstitial fibrosis may be observed. This form of cardiomyopathy may be idiopathic or associated with other conditions (amyloid disease, endomyocardial pathology with or without hypereosinophilia). The idiopathic variety is sometimes familial. The symptoms are not specific except for angina in cases of amylosis. All the signs of cardiac failure except cardiomegaly are present in advanced stages. In the idiopathic forms, thromboembolic complications are common. Atrial fibrillation and atrioventricular block are also often observed. The differential diagnosis with chronic constrictive pericarditis is sometimes difficult. Different investigations (Doppler echocardiography, CT scan, magnetic resonance imaging, isotopes, cardiac catheterisation and endomyocardial biopsy) may all fail to make the diagnosis and pericardectomy may have to be performed in the last resort. Treatment is based on diuretics, prevention of atrial fibrillation (amiodarone) and oral anticoagulants. Digoxin, which fixes to amyloid fibrils, may be arrhythmogenic in amyloidosis. Cardiac pacing may be used in cases of atrioventricular block and brady-arrhythmias. Cardiac transplantation is available in advanced forms after exclusion of amyloidosis. New specific therapeutic approaches to amyloidosis are discussed.

We report a case of recurrent transudative pleural effusion. The initial cardiovascular investigations failed to determine its cause. The catheterization showed a "dip-plateau" suggesting a restrictive cardiomyopathy. Endomyocardial biopsy finally proved a cardiac amyloidosis.

Thymic cysts are rare and almost always asymptomatic. The authors report the case of a 45 year old woman with a thymic cyst diagnosed after recurrent right sided heart failure resulting in signs suggestive of adiastole, regressing after "pleural" (mainly cystic) aspiration and diuretic therapy without any morphological or functional changes on Doppler echocardiography. This report concerns a rare tumour, with an exceptional volume (2 litres) extending down the cardiac borders and causing cardiac compression. It illustrates the diagnostic difficulty of a pathology with an unusual clinical presentation, despite complementary investigations including CT scan and MRI, very sensitive in this type of problem. A complete cure was obtained by total surgical ablation.