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.

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.

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.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid beta-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature.

Mitral regurgitation due to caseous calcification of the mitral annulus: two case reports.

Caseous calcification is a rare variant of mitral annular calcification, occurring in about 0.06% of echocardiographic studies performed. It is usually a benign lesion, but it should be differentiated by abscess and tumors.

Double-outlet right ventricle in a neonate with Cantrell's syndrome.

We report a case of the association of Cantrell's syndrome with double-outlet right ventricle in a neonate.

[Atrial septal defect in a child with Ito syndrome].

Hypomelanosis of Ito is a rare neurocutaneous disorder described for the first time in 1952. It is characterized by depigmented skin areas often associated with ocular, musculoskeletal and neurological abnormalities. We report the case of a newborn affected by hypomelanosis of Ito with an atrial septal defect.

[High-output congestive cardiac decompensation caused by an atrio-venous fistula resulting from lumbar disk surgery].

Although uncommon, arterio-venous fistula is a serious complication of lumbar disk surgery. Unless congestive heart failure develops, it often remains undetected. The present case report refers to a 30-year-old male who was referred to our division with a diagnosis of high-output congestive heart failure.

Echocardiographic Diagnosis of Subacute Ventricular Wall Rupture Complicating Acute Myocardial Infarction.

Rupture of ventricular wall is one of the most threatening complications of acute myocardial infarction. As a rule, it is rapidly lethal, and a precise diagnosis is seldom possible. On the contrary, in the so-called subacute ruptures (about one third of all cases), patients can survive for several hours, allowing time for diagnosis and immediate surgical intervention.