Fiorella Fratta

Hypertrophic Cardiomyopathy in a Girl With Cornelia de Lange Syndrome Due to Mutation in SMC1A

Hypertrophic Cardiomyopathy in a Girl With Cornelia de Lange Syndrome Due to Mutation in SMC1A Giuseppe Limongelli,* Silvia Russo, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D’Alessandro, Paolo Calabro, Maria Giovanna Russo, Raffaele Calabro, and Lidia Larizza Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy Istituto Auxologico, Milan, Italy Medical Genetics, Bambin Gesu’ Hospital, Rome, Italy Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy

Genetics of Takotsubo Syndrome

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, β1-, and β2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS.

Management of pregnancy in cardiomyopathies and heart failure

Pregnancy exposes women with inherited cardiomyopathies to increased risk for arrhythmias and heart failure. In asymptomatic patients with inherited cardiomyopathies, pregnancy is generally well tolerated. Preconception evaluation, risk assessment and proper counseling by a team of experienced physicians are mandatory in managing women with inherited cardiomyopathies planning pregnancy. In this paper, we reviewed the clinical course, risk assessment and management during pregnancy of women with cardiomyopathies.

Role of Counseling in Fetal Congenital Heart Diseases

Counseling is a profession that helps individual, family, or group through the relationship between the professional and client. Counseling facilitates the processes of change and improves the quality of life, enhancing both the resources and the relationships with the environment surrounding. The fetal echocardiography is a technique born in the late 1980s, when the improvement of ultrasound technology has made it possible to highlight the characteristics of the fetal heart. Huhta JC, one of the fathers of this method, wondered immediately if, without the possibility of dealing with in utero congenital heart disease, it was useful or advisable to diagnose before birth. Numerous studies have now clearly demonstrated that a team consisting of a gynaecologist and a cardiologist pediatrician can diagnose with very high accuracy a number of congenital heart defects in the fetal stage; so, the spectrum of the anomalies discovered in the uterus is almost superimposed on the heart disease observed at birth. Nowadays, high attention to the anatomy of the fetal heart is associated with an equally close attention to the psychological aspect of the matter: in practice it is not always possible to deal adequately with the counseling prospective parents.

The role of multimodality cardiac imaging for the assessment of sports eligibility in patients with bicuspid aortic valve

Bicuspid aortic valve (BAV) cannot be considered an innocent finding, but it is not necessarily a life-threatening condition. Athletes with BAV should undergo a thorough staging of the valve anatomy, taking into consideration hemodynamic factors, as well as aortic diameters and looking for other associated significant cardiovascular anomalies by use of a multimodality cardiac imaging approach. Furthermore an accurate follow-up is mandatory with serial cardiological controls in those allowed to continue sports.