Coarctation of the aorta is a congenital narrowing of the aorta usually just distal to the origin of the left subclavian artery. Rare coarctation can occur at any point from the aortic arch to the abdominal bifurcation.
The condition occurs at an incidence rate of about 1 in 2,500 live births and is two to five times more frequent in males than females. Coarctation of the aorta is often associated with other congenital cardiac abnormalities, most often a bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect, or valvular aortic stenosis. It occurs in 35% of patients with Turner syndrome (XO).
Coarctation of aorta is the most common cardiovascular cause of secondary hypertension. The clinical hallmark of coarctation of the aorta is variance in blood pressure in the upper and lower extremities. The pressure gradient produced by coarctation causes hypertension proximal to the narrowed segment and occasionally, dilation of that portion of the aorta. Hypertension in the upper part of the body results in left ventricular hypertrophy and may produce dizziness, headaches, and nosebleeds.
Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Most of the time, coarctation of the aorta occurs sporadically, with no clear reason for its development.
Uddin et al. (2000) carried out an operative intervention for coarctation of the aorta on 51 subjects (31 males, 20 females) with a mean age of 26.8 +/- 20.3 days throughout the period between January 1992 and December 1996. The cohort comprised of 26 patients with simple coarctation and 25 subjects with coexisting other complex cardiac abnormalities. The surgical procedure resulted in an overall mortality rate of 14%, a mean duration of follow-up of 16.5 +/- 12.8 months, and recoarctation rate of 20%. Furthermore, additional heart disease was found in seven of the deceased patients. Uddin et al. (2000) demonstrated that mortality is increased with further correlated cardiac abnormalities.
Manikoth et al. (2005) reported the case of a 9-year-old child with severe intractable abdominal pain as the presenting symptom of postsubclavian coarctation of aorta with hypertension. The child was having severe colicky pain in the upper abdomen associated with vomiting of 5 days duration, with no relief of symptoms with parenteral antispasmodics. A detailed cardiovascular examination revealed feeble femoral pulses with systolic hypertension in the upper extremities. By elective transcatheter balloon dilation of coarctation of aorta normal blood pressure was restored.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, seven children were born with Coarctation of Aorta.
Almawazini and AlGhamdi (2011) screened 2610 children from Albaha region with congenital heart disease (CHD). Of these, 20 patients (3.4%) were found to have a coarctation of aorta.
Monies et al. (2017) studied the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 16-year-old female from a consanguineous family, presented with severe congenital heart disease, failure to thrive, developmental delay, hearing loss and nephrotic syndrome. Using whole exome sequencing, a homozygous mutation (c.384dupT, p.N128fs) was identified in exon 5 of the patient’s MCTP2 (Multiple C2 Domains-Containing Transmembrane Protein 2) gene. This finding presented a unique case of a recessive mutation in a gene normally associated with a dominant phenotype. Also, as the gene was only tentatively linked to Coarctation of the Aorta, this case helped provide confirmation of this association.
Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 to January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. Multifactorial disorders accounted for 26% of the cases. In their study, Al Talabani et al. (1998) observed two cases of coarctation of aorta in families from the United Arab Emirates. Recurrence was not reported in the families. Al Talabani et al. (1998) concluded that their study was very close to representing the true incidence of congenital abnormalities in the whole United Arab Emirates, as they investigated over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to firstname.lastname@example.org.