Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.

Tuberous sclerosis is an autosomal dominant disorder almost fully penetrant with highly variable expression. Most cases are de novo and this diagnosis is sometimes considered during prenatal life in case of cardiac tumor, unique or multiple. The couple should be referred to a specialized tertiary prenatal care center for expertise and information. Fetal molecular testing of the two genes TSC1 and TSC2 is often informative. Prognosis determination for Tuberous Sclerosis remains a difficult task. Cardiac tumors can be sometimes worrying but only a minority will have a pejorative issue and most cases are asymptomatic without any therapeutic intervention needed. Only few cases need surgical or medical treatment. Patients with Tuberous Sclerosis can develop skin, eye, kidney or lung lesions later on, but they are either of limited consequence or treatable. The crux of the matter is the neurological involvement with frequent intellectual deficiency and epilepsy that can be drug-resistant. The absence of lesion on fetal brain MRI is not predictive of any prognosis and does not rule out Tuberous Sclerosis. De novo TSC2 mutation is a negative prognosis factor and conversely, an inherited TSC1 mutation is a more favorable one, but with a severe issue still possible. Facing this cautious prognosis, some couple may opt for termination of pregnancy while others decide to pursue it. It is then fundamental to set cardiac and neurological regular follow-up for these newborns. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

[Magnetic resonance imaging in patients with pacemakers and implantable cardioverter-defibrillators: a systematic review]. / Imagerie par résonance magnétique chez les patients porteurs de stimulateurs cardiaques et de défibrillateurs automatiques implantables: revue de la littérature.

The presence of a pacemaker or an implantable cardioverter-defibrillator was historically considered a contraindication to magnetic resonance imaging (MRI), due to the risks for both patient and device: reed-switch closure responsible for asynchronous pacing, inhibition of pacing, rapid ventricular pacing, heating on the lead tip or even device displacement... However, many recent studies demonstrate that if MRI is crucial for the management of the patient, it can be performed under specific monitoring and scanning conditions and after device reprogramming. The growing implication of device constructors in constructing a MRI safety device will perhaps extend in the future the indications of this imaging modality in implanted patients.

[Long QT syndrome: an underestimated cause of sudden infant death]. / Le syndrome du QT long congénital : une cause sous-estimée de la mort subite inexpliquée du nourrisson.

Congenital long QT syndrome (LQTS) is an inherited arrhythmia that can be sporadic or familial. It predisposes to sudden cardiac death by ventricular fibrillation, which can occur at any age, particularly in neonates. Recent postmortem molecular screening surveys have shown that 10 to 12% of sudden infant death syndrome (SIDS) cases were potentially related to congenital long QT syndrome. Current SIDS etiological surveys fail to diagnose LQTS. Specific questioning and electrocardiographic screening of first-degree relatives could greatly facilitate LQTS diagnosis. We propose adding these to screening modalities after a SIDS incident. Neonatal electrocardiographic screening could allow early identification of LQTS and adapted treatment and follow-up.

Contribution of cardiac MRI in the comprehension of peripartum cardiomyopathy pathogenesis.

Pathogenesis of peripartum cardiomyopathy (PPC) is still discussed. We report one case of PPC in which a cardiac magnetic resonance imaging analysis allowed to exclude some "classical" pathogenesis hypotheses. We would like to emphasize the benefits of cardiac MRI in the comprehension of the mechanism(s) involved in the genesis of PPC.

Can peripartum cardiomyopathy be familial?

Peripartum cardiomyopathy (PPCM) is a rare disorder, with four principal features: 1--development of cardiac heart failure in the last month of pregnancy or within five months after delivery, 2--absence of an identifiable cause for heart failure, 3--absence of underlying heart disease prior to the last month of pregnancy, 4--evidence of left ventricular systolic dysfunction by classic echocardiographic criteria. Reported forms of familial peripartum cardiomyopathy are exceptional. Our observation emphasizes the interest of cardiac magnetic resonance imaging (MRI) in the investigation of an acute heart failure occurring during the peripartum and allows us to evoke a genetic predisposition in some cases of PPCM, to discuss the fact that some forms of familial PPCM could be unknown familial dilated cardiomyopathy unmasked by pregnancy, and to wonder on the familial screening modalities.

[Ischemic mitral regurgitation: contributions of exercise echocardiography and new therapeutic perspectives]. / Insuffisance mitrale ischémique: apport de l'échocardiographie d'effort et nouvelles perspectives thérapeutiques.

The ischemic mitral regurgitation is defined by a left ventricular muscle disease affecting the function of normal mitral valve leaflets. This kind of mitral regurgitation is founded in about 20% of the ischemic cardiomyopathy and is attributed to the remodelling of the left ventricular shape. Its development is associated to a significantly worse prognosis. Frequently this ischemic mitral regurgitation will be associated to episode of acute heart failure decompensation. Its diagnosis is sometimes challenging as the degree of regurgitation might be extremely variable and affected by loading conditions. Echocardiography and especially exercise stress echocardiography has been demonstrated as an extremely powerful tool for its diagnosis and the prognostic evaluation. Its treatment should include the pharmacological treatment of the chonic heart failure and we are still waiting data in regard to the prognostic role of surgical mitral valvuloplastie. Works are still ongoing.