Viviana Tulino

Clinical variants in Ebstein's anomaly

Exbsteins anomaly (EA) is a rare congenital cardiac malformation, which is associated with morphological and electrophysiological abnormalities [1–21]. The incidence is assessed b 1% but it is often underdiagnosed because of the existence of minor forms, sometimes difficult to recognize [22–24]. EA is defined as the significant apical displacement of the septal tricuspid valve leaflet and the presence of a redundant, elongated, anterior tricuspid valve leaflet, causing a significant regurgitation, associated with a reduction of the functional right ventricle, right atrial and right ventricular dilatation and supraventricular and ventricular arrhythmias [1–25]. Generally EA is diagnosed in pediatric age or during the pregnancy but often the first diagnosis is made in the adult [26,27]. We made a case report about a patient of 62 years, who underwent for a cardiologic physical exam for moderate labour dyspnoea. The ECG showed atrial fibrillation. At the echocardiogram there were clear alterations involving the tricuspid valve and suggesting an EA (Fig. 1). This case shows that EA may present with various patterns, which may be at the base of numerous clinical manifestations between pediatric and adult age [28,29]. This variability derives from the different size of the tricuspid valve displacement, from the different size between the right “atrialized” ventricle and the remaining functional right ventricle, from the functionality of the tricuspid leaflets and from the presence of other heart congenital diseases [28–35]. The authors of this manuscript have certified that they comply with the Principles of Ethical Publishing in the International Journal of Cardiology.

Interatrial defect, ventricular septal defect and patent ductus arteriosus in a 2-day-old newborn infant

Interatrial defects, ventricular septal defects, and patent ductus arteriosus can occur as part of more congenital cardiac malformations or as an isolate finding. We present a case of interatrial defect associated with ventricular septal defect and patent ductus arteriosus in a 2-day-old newborn infant.

Treatment failure of low molecular weight heparin in a patient with an aortic mechanical prosthesis

After mechanical heart valve replacement use of unfractionated heparin is sometimes required because vitamin K antagonists are temporarily contraindicated or to prevent valve-associated thromboembolism until oral vitamin K antagonists take effect. Bridging therapy with a standardized low molecular weight heparin-based regimen has been reported effective and relatively safe in a large cohort of patients with mechanical heart valves. Many cases with mitral mechanical valve prostheses and treatment failure of low molecular weight heparin have also been reported as well as prosthetic valve thrombosis has been reported with adequate anticoagulation. A case has also been reported of well functioning Starr-Edwards aortic prosthesis without anticoagulation. We present a case of cardioembolic stroke in a patient with an aortic mechanical prosthesis in bridging therapy with a standardized low molecular weight heparin-based regimen. This case is illustrative of treatment failure of low molecular weight heparin in a patient with an aortic mechanical prosthesis.

Perinatal asphyxia and cardiac abnormalities

The most common etiologies of myocardial infarction in the perinatal period are congenital heart disease, coronary artery lesions, thromboembolism and perinatal asphyxia. Cardiac abnormalities in perinatal asphyxia include tricuspid regurgitation and mitral regurgitation associated with transient myocardial ischemia of the newborn. Patent foramen ovale is a frequent remnant of the fetal circulation. Persistent hypoxia sometimes causes pulmonary arterial hypertension with consequent right to left shunt across patent ductus arteriosus and foramen ovale. We describe a case of tricuspid regurgitation, mitral regurgitation, and patent foramen ovale in a 15-day-old newborn male infant with a history of perinatal asphyxia. Also this case focuses attention on the perinatal asphyxia.

A congenital form of junctional ectopic tachycardia

Accessory pathways have been described as well as their Ecg identification criteria also in pediatric population. Radiofrequency ablation is a curative treatment but its application has been more limited in the paediatric population. The congenital form of junctional ectopic tachycardia was firstly described by Coumel et al. in 1976. It usually occurs in the first six months of life presenting as a persistent sustained form, lasting up to 90% of the time and it is hampered by high mortality. Its clinical presentation may be dramatic, being associated in up to 60% of cases with cardiomegaly and/or heart failure. Secondary dilated cardiomyopathy, ventricular fibrillation and sudden cardiac death have also been reported. We present a case of congenital form of junctional ectopic tachycardia in a 12-day-old newborn infant. Also this case is illustrative of the congenital form of junctional ectopic tachycardia.

The chance finding of an aneurysm of the right sinus of Valsalva in an 11-year-old child with a ventricular septal defect and a pericardial effusion

Ventricular septal defects can occur as part of other congenital cardiac malformations or as an isolated finding. Aneurysms of the sinus of Valsalva are rare, most commonly involving the right or noncoronary sinuses. They can be congenital or acquired through infection, trauma, or degenerative diseases. They frequently co-exist with ventricular septal defects, aortic valve dysfunction, or other cardiac abnormalities. More commonly, sinus of Valsalva aneurysms are diagnosed after the clinical sequelae of rupture. Several etiologic factors may lead to the development of pathologic pericardial effusion and the detection of pericardial effusion was one of the first applications of echocardiography to gain widespread acceptance. We present a case of a chance finding of an aneurysm of the right sinus of Valsalva in an 11-year-old Italian child with a ventricular septal defect and a pericardial effusion.

A recurrent patent ductus arteriosus

Patent ductus arteriosus (PDA) can occur as part of more congenital cardiac malformations or as an isolate finding. Spontaneous, transcatheter, surgical closure, and pharmacological treatment have been reported. We present a case of recurrent PDA after the initial course of a pharmacological treatment. Also this case focuses on recurrent PDA after the initial course of a pharmacological treatment.

The chance finding of a ventricular septal defect in a 2-day-old newborn infant

Certain congenital cardiac defects may go undetected for several years due to lack of symptoms and signs.Ventricular septal defects can occur as part of more congenital cardiac malformations or as an isolate finding. The natural history of ventricular septal defects depends on the size of the defect and on the pulmonary resistance. We present a case of the chance finding of a ventricular septal defect in a 2-day-old newborn infant with an interatrial septal aneurysm.

An occasional diagnosis of isolated pulmonary stenosis

Pulmonary stenosis can occur as part of more congenital cardiac malformations or as rare primary isolated pulmonary stenosis. It has been reported a primary isolated pulmonary artery stenosis in an asymptomatic 25-day-old newborn infant and a rare case of isolated pulmonary stenosis in a 66-year-old woman has been reported too. We present a case of primary isolated pulmonary artery stenosis in an asymptomatic 11-year-old Italian woman where the diagnosis was made during a cardiovascular check-up.

A case of spontaneous closure of a muscular ventricular septal defect

Ventricular septal defects can occur as part of more congenital cardiac malformations or as an isolate finding. Surgical closure, transcatheter occlusion and spontaneous closure have been reported. We present a case of spontaneous closure of a muscular ventricular septal defect. This case focuses attention on spontaneous closure of a muscular ventricular septal defect.