First-cousin marriage may be a significant risk factor for specific types of congenital heart disease in a consanguineous population. Inbreeding studies suggest an autosomal recessive component in the cause of some congenital heart defects. We studied a large sample of patients with structural congenital heart defects (CHD) identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. After exclusions of chromosome abnormalities and non-participation, data were collected on 891 consecutive patients who were registered between January and August, 1998. Data on first-cousin consanguinity and type of CHD diagnosis were collected. A z test of proportions was used to determine the association between consanguinity and subtypes of CHD. Data indicate that the proportion of first cousins in the CHD sample is higher than the proportion in the general population, supporting a hypothesis of autosomal recessive gene involvement in congenital heart disease. When subgroups of CHD were analyzed, first-cousin consanguinity was significantly associated with ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defect (AVSD), pulmonary stenosis (PS), and pulmonary atresia (PA). There was no relationship between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA). Thus, in a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly in the offspring of first cousins. There may be a recessive component in the causation of some cardiac defects.

AoR is feasible with good hemodynamics, low mortality and thromboembolic rate. Its behavior at 10 years is comparable to that of stentless aortic valve bioprosthesis. It can be performed with either xenopericardium or glutaraldehyde-treated autologous pericardium, but the latter has the advantage of being inexpensive and readily available.

This study intends to provide a detailed overview of the types and rates of peri-operative complications after surgical correction of an isolated ASD II. The transvenous approach to the occlusion of atrial septal defects has yielded promising results during its first 5 years of clinical trials, but before it can be established as a routine measure, definite proof is needed to demonstrate that its rate of serious complications does at least not exceed that of the surgical closure. Between 1985 and 1992, 232 consecutive patients underwent surgical closure of a secundum atrial septal defect. Among the patients 118 were children (< 18 years; 79 girls and 39 boys) with a mean age of 8.9 +/- 5.2 years (4 months-17 years) and 114 adults (74 women and 40 men) with a mean age of 28.5 +/- 10.8 years (18-69 years). Pre-operatively eight children (6.8%) and eight adults (7%) were treated for right heart failure. Mean pulmonary artery pressure was 20.4 +/- 10.4 mmHg for the children and 19.3 +/- 7 mmHg for the adults. The average pulmonary artery to systemic flow ratios were 2.9:1 and 3:1 for children and adults, respectively. Thirty children (25.4%) and 15 adults (13.2%) underwent patch closure while direct suture was the method used for the remaining patients. Average cardiopulmonary bypass time was 35.7 +/- 17.9 min for the children and 41.5 +/- 19.9 min for the adults. The length of the procedure (skin to skin) was a mean of 116 min in the young group, and 141 min in the adult group.(ABSTRACT TRUNCATED AT 250 WORDS)

Balloon angioplasty is safe and effective and should be considered a viable alternative to operation for treatment of discrete coarctation of the aorta in adolescents and adults.

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We describe what is, to the best of our knowledge, a previously unreported association in patients with similar facial features, skin and joint laxity, of lengthening and tortuosity of systemic, pulmonary and coronary vessels. We evaluated 12 patients with similar phenotypes, from eight different families. Detailed echocardiographic and angiographic evaluations were performed in all, and biopsies of the skin in seven. All patients have elongated facies, prominent ears, micrognathia and laxity of their joints. Angiographic pictures showed a varying degree of lengthening and tortuosity of systemic, pulmonary, and coronary arteries. Pulsatile carotid arteries formed cervical masses in 2 patients, and three had severe renal arterial stenoses. All showed varying degrees of branch and peripheral pulmonary arterial stenosis, necessitating placement of stents in six. Biopsy of the skin proved normal in all seven patients studied, thus excluding cutis laxa, Ehlers-Danlos and Marfan syndromes. The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.

Our findings, and similar observations by others, suggest involvement of the sinus node and the distal conduction system in this form of the LQTS. Several histologic studies have documented abnormalities within the conduction system, including apoptosis. Because of the rare occurrence and poor prognosis of the LQTS with impaired AV conduction, international guidelines for diagnosis and treatment are needed. Development of an internal cardiac defibrillator for this young age group is necessary.