OBJECTIVE To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening. METHODS In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from hear...

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of family...

a secundum atrial septal defect is the most common congenital heart defect. transcatheter treatment of secundum atrial septal defects is a popular and less invasive alternative to surgery. procedural complications may occur in a wide spectrum, particularly device embolus as the most emergent one, but luckily they do not commonly occur in the clinical setting. mortality from adverse events relat...

OBJECTIVES Inflammation is the most important mechanism of plaque disruption playing an essential role in acute coronary syndromes. It is controversial whether the inflammatory mediators are the cause or the result in the development of plaque rupture. Stimulation of interleukins increases adhesion molecules, fibrinogen and plasminogen activator inhibitors,which cause the activation of inflamma...

Obstructive sleep apnea syndrome (OSAS) leads to cardiovascular complications such as coronary artery disease, left/right ventricular hypertrophy and dysfunction, heart failure, systemic and pulmonary hypertension, arrhythmias and stroke; and these all cardiovascular complications increase morbidity and mortality of OSAS. However, Cheyne-Stokes respiration, central and obstructive apneas may oc...

BACKGROUND A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies and midline defects. No mutations were found in GATA4 and NKX2-5. METHODS AND RESULTS A set of 399 poly(AC) markers was used to perform a linkage analysis which peaked at a 2.98 lod score on the long arm of chromosome 15. Th...

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial s...

Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An incidence rate of 7.3 per 1000 total births was found. This reduced to 3.1 per 1...

abstract a 49-year-old man with lutembacher's syndrome associated with frontal meningioma referred to our hospital. he also suffered from exertional dyspnea. transthoracic echocardiography demonstrated mitral valve area of 1.48 cm2, moderate mitral stenosis, and left atrial dimension (lad) of 5.6 cm with no clot. tee revealed severe mitral stenosis, mitral valve area of 1.05 cm2 with wilki...

there is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. the result of karyotype showed 47xx, with extra marker chromosome 22. although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestati...