Different Cardiac Anomalies in Mother and Son with 4q-Syndrome.

We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.

Delayed diagnosis of Fabry disease presenting as myocardial ischaemia.

ERRATUM: Hellenic J Cardiol. 2012; 53: 77-79. At the request of the authors, the name of the third author of this Case Report has been changed from Bruno Tuttolomondo to Antonino Tuttolomondo.

Delayed diagnosis of Fabry disease presenting as myocardial ischaemia.

Cardiovascular complications due to the accumulation of globotriaosylceramide in cardiac cells occur in almost all patients affected by Anderson-Fabry disease. Cardiac manifestations include left ventricular hypertrophy, mitral regurgitation, conduction disturbances and myocardial ischaemia. We report a case of Fabry's disease diagnosed several years after the onset of early cardiac symptoms.

Detection of early cardiac dysfunction in patients with Beta thalassemia by tissue Doppler echocardiography.

BACKGROUNDS: In this study we tried to evaluate the prognostic significance of several echocardiographic parameters on the occurrence of heart failure or arrhythmias in patients with beta thalassemia. METHODS: We investigated possible differences in myocardial function between a population of 37 asymptomatic patients with beta thalassemia and 25 age-matched healthy controls, all of whom underwent an echocardiographic study, including tissue Doppler imaging (TDI), moreover plasmatic levels of N-terminal pro-BNP (NT-pro BNP) were measured in all patients. We followed the patients for 22 ± 8 months to evaluate adverse cardiac events. RESULTS: Conventional echocardiographic parameters of left ventricle were comparable in both groups. Whereas TDI peak systolic velocity (Sm) and diastolic parameter (E/Em ratio) were significantly abnormal in patients with thalassemia. Moreover eleven adverse cardiac events were observed during follow-up. Baseline systolic velocity (Sm) <7.9 cm/s was significantly associated with cardiac complications (P < 0.05). We also demonstrated that systolic velocity is inversely related to NT-proBNP plasmatic levels (P < 0.001). CONCLUSIONS: Our study suggests that mitral annular systolic velocity <7.9 cm/s is associated to the onset of adverse cardiac events.

Acute cardiac injury after subarachnoid haemorrhage: two case reports.

It is well known that cardiopulmonary complications are often associated to subarachnoid haemorrhage. For appropriate therapeutic managing it is very important to distinguish acute coronary syndrome from neurogenic myocardial injury, which is a reversible condition. Furthermore, because the hearts of brain dead patients may be utilized for therapeutic purpose, it has became of importance to rule out erroneous diagnosis of cardiac ischemia in order to avoid rejection of hearts potential suitable for transplantation.We present a report of two female patients affected by cardiac complications caused by aneurismal subarachnoid haemorrhage admitted to our neurosurgical intensive care department.