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.

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. Echocardiography is the most sensitive method to identify caseous calcification which appears typically as a round, calcified mass with an echo-lucent, liquid-like inner part.

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.

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.

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]. / Difetto del setto interatriale in un neonato con ipomelanosi di Ito.

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]. / Scompenso cardiaco congestizio ad alta gittata da fistola iliaco-cavale secondaria ad intervento di ernia del disco lombare.

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. It is important that surgeons, cardiologists and radiologists be aware of this potentially fatal complication.

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. We report here the case of one patient with subacute cardiac rupture who was diagnosed with echocardiography and successfully treated with pericardiocentesis and surgery.