Atrial Septal Defect 1

Alternative Names

  • ASD1
  • Atrial Septal Defect, Primum Type
  • ASD I
  • Atrial Septal Defect, Secundum Type
  • ASD II
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

108800

Mode of Inheritance

Autosomal dominant

Gene Map Locus

5p

Description

Atrial septal defect is characterized by incomplete closure between the two upper chambers of the heart, resulting in blood flow through a hole in the wall (septum) between the upper chambers of the heart (atria) from one side to the other, causing certain heart chambers to have to pump extra blood. The heart can dilate, the muscle can become weak, and the pressures in the pulmonary arteries can increase (pulmonary hypertension) due to the increase in blood flow. It may occur in various positions in the atrial septum: the lower part, ostium primum, 15% of cases; in the area of fossa ovalis, ostium secundum, in 75% of cases; and in the upper atrial septum, sinus venosus, in 10% of cases. Uncorrected atrial septal defect can cause pulmonary overcirculation, right heart volume overload, and premature death.

By genome-wide linkage studies, the localization of the gene causing familial atrial septal defect could be identified to a locus on chromosome 5p. This disorder is genetically heterogeneous with incomplete penetrance and variable expressivity, and can also be caused by defects in other undefined genes.

Epidemiology in the Arab World

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Other Reports

Kuwait

Nour, 1999, detected a significant difference in breath diffusion capacity between patients with congenital atrial septal defect and those with advanced rheumatic dominant mitral stenosis, for both males and females.

[Nour MM. Pulmonary diffusion capacity in mitral stenosis and atrial septal defect. Kuwait Med J. 1999; 31(4): 353-6.]

Lebanon

Mansour et al. 2005, conducted a retrospective study of 240 consecutive patients with congenital heart disease and found 62 cases of ventricular or atrial septal defects. 

Chehab et al. (2007) compared consanguinity rates between patients with congeital heart malformations (1585 patients) and patients with heart defects lacking malformation (1979 control patients). Consanguinity was significantly more prevalent in patients with congenitally malformed hearts compared to controls. Consanguinity among patients versus controls of 1st-degree cousins, 1st & 2nd-degree cousins, and a group with any degree of consanguinity showed 19.4%, 25.7%, and 27.4% versus 14.4%, 20.3%, and 23.9%. Patients with tetralogy of Fallot, valvar aortic stenosis, and atrial septal defect had a significantly higher percentage of consanguineous parents than the controls.

Libya

Hassadi et al, 1989, studied 200 subjects with mitral valve prolapse (MVP) and found atrial septal defects in 2.5% of the cases. 

Oman

Subramanyan et al, 2000, conducted a study to analyze the incidence and spectrum of congenital heart disease (CHD) in the Sultanate of Oman from 1994 to 1996. Incidence of CHD was found to be 7.1/1000 live births. 14.4% of 992 newborns diagnosed with CHDs had atrial septal defect. The number of atrioventricular septal defects (5.9%) reported in Oman were noted to be higher than other countries.

Venugopalan and Jain, 2002, reported on an asymptomatic 4-month-old boy, who was accidentally detected to have an atrial septal defect, secondary to a giant right atrial aneurysm.  

Venugopalan and Agarwal, 2003, conducted a retrospective study to identify the pattern of congenital heart defects in children with Down Syndrome.   

Sawardekar, 2005, noted that of the 21,988 children born during a 10-year period in a hospital in Nizwa, 5 had atrial septal defects. 

Qatar

Hijazi et al, 1998, presented a case of a 25-year-old male with a large secondum atrial septal defect associated with a coronary artery fistula between the right coronary artery and the right atrium.

Saudi Arabia

Almawazini and AlGhamdi, 2011, screened 2610 children from the Albaha region with congenital heart disease and found 55 cases of ASD. 

Sudan

El Hag, 1994, conducted a retrospective study of 179 children and found 100 cases of congenital heart disease. The patients suffered from ventricular septal defect (VSD), Fallot's tetralogy, pulmonary stenosis, patent ductus arteriosus, atrioventricular septal defect and secondum atrial septal defect.

United Arab Emirates

Hamdan et al. 2015 reported that out of 1950 pregnant women undergoing fetal echocardiography, 152 fetuses were diagnosed with congenital heart disease. 139 of these were of Arab ethnic background and 60-70% of the Arabs were of Emirati origin. Parental consanguinity was noted in 69% of the Arab cases (96/139). Findings in the cohort included left heart obstruction (n=30), conotruncal malformations (n=26), septal defects (n=22), cardiomyopathy (n=19), right heart obstruction (n=8), arrhythmia (n=8), heterodoxy syndromes (n=3), cardiac tumors (n=3) and anomalous venous connection (n=1).  

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