Williams syndrome (WS), also referred to as Williams-Beuren syndrome, is a rare complex congenital developmental multisystem disorder, occurring in 1 per 20,000 live births, It characterized by heart defects (CHD), skeletal, renal anomalies, cognitive social personality disorder and notably dysmorphic Elfin-like facies. Supravalvular aortic stenosis the most frequent cardiovascular abnormality ...

Abstract Introduction In the last few years, genetic investigation has become an active part of diagnostic and therapeutic pathway cardiological patients with cardiomyopathies. Genetic assumes a key role in clinical–decision–making process proband acquiring potential changing clinical action. Patients referred for screening are affected by hypertrophic, arrhythmogenic dilated cardiomyopathy. fo...

Abstract Background Sudden cardiac death (SCD) in young individuals and athletes is generally caused by hereditary conditions, including cardiomyopathies such as hypertrophic cardiomyopathy (HCM). Although historically HCM has been reported the predominant cause of SCD athletes, it unclear to what degree exercise a trigger for possible fatal arrhythmias. Aim We aimed report on circumstances coh...

Retrospective analysis was performed to assess the natural history in relation to clinical and haemodynamic features in 37 patients in whom hypertrophic cardiomyopathy had been diagnosed in childhood. At diagnosis they were aged 1 to 14 years (mean 9 years). Eighteen presented with chest pain and either dyspnoea or symptoms of impaired consciousness or both; 19 were asymptomatic and were referr...

The macroscopic features of hypertrophic obstructive cardiomyopathy are variable. The most easily recognized picture is of disproportionate and asymmetrical left ventricular hypertrophy with a small ventricular volume. Symmetrical ventricular hypertrophy also occurs and dilatation of the ventricular cavity may lead to a configuration more usually associated with congestive cardiomyopathy. Papil...

BACKGROUND Exercise hypotension has been documented in hypertrophic cardiomyopathy. It is not the result of an inability to augment cardiac output but instead relates to an inappropriate and exaggerated decrease in systemic vascular resistance at high work loads. METHODS AND RESULTS To enable us to examine the behavior of the peripheral vasculature during exercise, 103 consecutive patients un...

The clinical profile of 78 patients with hypertrophic cardiomyopathy who died suddenly (or experienced cardiac arrest and survived) was analyzed. At the time of cardiac catastrophe, 71% of the patients were younger than 30 years of age, 54% were without functional limitation and 61% were performing sedentary or minimal physical activity. Nineteen of the 78 patients (24%) were taking propranolol...