Patent Ductus Arteriosus

Alternative Names

  • PDA
  • PDA1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

607411

Gene Map Locus

12q24

Description

Patent ductus arteriosus (PDA) is one of the most common congenital heart defects occurring in some babies soon after birth. Normally, the fetus blood circulation includes a connection between the aorta and the pulmonary artery via a blood vessel known as the ductus arteriosus. After birth, the circulation matures by closing the ductus arteriosus within few days. If the ductus arteriosus remains open (patent), the blood will flow directly from the aorta into the pulmonary artery causing a strain on the heart and increase the blood pressure in the lung arteries. The incidence of PDA is estimated to be 1:2000 full term infants; however, the rate is higher in premature babies.

Clinical signs include failure to gain weight, frequent chest infections, heavy breathing during mild physical exertion, congestive heart failure, and pulmonary edema, however, many patients remain asymptomatic. Initial diagnosis is made by detecting the characteristic heart murmur and this can be supported by chest X-ray, echocardiograph, and ECG.

Treatment depends on the size of PDA, the symptoms, and pregnancy period. PDA has shown self correction in some cases. Preterm infants with PDA will receive certain medication to close the ductus arteriosus. On the other hand, if the preterm infant doesn't respond to the medication and in the case of full term infant, surgery will be the effective option.

Molecular Genetics

PDA can be a familial condition that occurs as isolated PDA or part of an inherited disorder. However, familial occurrence appears to be uncommon. The mode of inheritance in familial PDA may be autosomal dominant or recessive. Mostly, PDA seems to be a multifactorial condition caused by the combination of genetic factors and environmental factors. The combined factors result in a defect in the elastic tissue forming the walls of the ductus arteriosus.

Familial PDA forms a part of many syndromes such as Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities.

Epidemiology in the Arab World

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Other Reports

Kuwait

Hammoud et al. (2003) studies 101 consecutive ventilated preterm infants in Kuwait to study the incidence and risk factors of patent ductus arteriosus (PDA) in this population. Of these 101 infants, 53.4% were found to have PDA. Regression analysis revealed maternal diabetes, antepartum hemorrhage, low gestational age, low birth weight, and male gender to be significantly associated with PDA in preterm infants with respiratory distress syndrome.

Saudi Arabia

Almawazini and AlGhamdi (2011) screened 2610 children from Albaha region with congenital heart disease (CHD).  Of these, 56 patients (9.5%) were found to have a PDA.  

United Arab Emirates

Hosani and Czeizel (2000) evaluated the pilot dataset [March-May 1998] of the UAE National Congenital Abnormality Registry (NCAR). A total of 4,861 births were recorded in this study period, with a birth prevalence of total congenital anomalies being 30.3/1,000 births. Patent ductus arteriosus was identified in one neonate, resulting in an incidence rate of 0.21/1,000 births.

 

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