AIMS Pulmonary hypertension (PH) in asymptomatic patients is a rare cause of sudden death. This study aims to determine the incidence of this entity and raise awareness among pathologists. METHODS We retrospectively investigated 44 cases of sudden unexpected death in relation to PH in patients not on antihypertensive therapy. This is the largest pathological study reported. RESULTS We repor...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

The affinity of some chromosomal anomalies for certain types of congenital heart disease is well known, e.g. atrioventricular defects in Down's syndrome and coarctation of the aorta in Turner's syndrome. Many reports on several types of congenital heart disease in close or more distant family relationships have aroused suspicion that genetic factors may be important also in other patients. Repo...

Background: Cor triatriatum is a rare congenital cardiac malformation. Prevalence only around 0.1% of the diagnosed cardiovascular malformations. Historically prevalence has been described 0.4% in autopsies patients with heart disease. It characterized by presence membrane, usually, endocardium and fibro-muscular tissue within one atrial chambers, dividing it into two, thereby giving appearance...

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

Kabuki make-up syndrome has been reported mainly among Japanese, so far occurring in more than 20 cases. Among these, however, only one case associated with congenital heart defect has been reported. We have treated three patients with this syndrome and of these two had congenital heart disease. We suggest the possibility that the association of congenital heart disease with Kabuki make-up synd...

The prevalence of adults with congenital heart disease is rising in the general population (1). Similarly, the number of geriatric patients with congenital heart disease, such older than 70 years old, is also rising. Furthermore, mortality rates in congenital heart disease have shifted away from the young and towards adults, with a steady increase in age at death. Actually, the mortality of con...

Many patients with congenital heart disease and systemic-to-pulmonary shunts develop pulmonary arterial hypertension (PAH), particularly if the cardiac defect is left unrepaired. A persistent increase in pulmonary blood flow may lead to obstructive arteriopathy and increased pulmonary vascular resistance, a condition that can lead to reversal of shunt and cyanosis (Eisenmenger syndrome). Cardia...

Primary cardiac tumor in infancy is an uncommon condition which is rarely accompanied with congenital heart disease. Although these tumors are generally benign, the complication associated with it, such as arrhythmia, outflow tract obstruction, and heart failure, may result in early mortality, when combined with congenital heart disease. Early surgical treatment may reduce complication risk and...