A continuous murmur like that of a persistent ductus arteriosus produced by a stenosed branch of a pulmonary artery with a post-stenotic dilatation is presented in the following case. Other abnormalities included a hypoplastic left lung, atrial septal defect, ventricular septal defect, and an absent left pulmonary artery. The literature on congenital heart disease contains increasing numbers of...

BACKGROUND A pre-anaesthestic echocardiogram (echo) is requested for most non-cardiac surgeries to identify possible cardiac structural anomalies. OBJECTIVE To describe the prevalence and spectrum of structural cardiac abnormalities seen in various non-cardiac conditions. METHODS We carried out a retrospective review of pre-anaesthetic echos performed over five years on children scheduled f...

OBJECTIVE To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. METHODS The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had be...

Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-ol...

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22qll deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with ...

background: dextrocardia is a congenital anomaly, which may have coexistent coronary artery disease (cad), arrhythmias and conventional indications for device therapy. however, the implantation of transvenous leads can be technically challenging and the approach needs to be tailored to the patient's individual anatomy. case presentation: a 54-year-old male with dextrocardia situs inversus ...

background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet...

Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first...