Discussion:
EVC syndrome is an autosomal recessive syndrome, and 30% of patients
die during the first year of life due to cardiac or respiratory problems
(1). A retrospective review of the cases submitted to the Pediatric
Cardiac Care Consortium between 1982 and 2007 was performed, and
included thirty-two pediatric patients with CHD and EVC syndrome (4),
and of whom twenty-eight (88%) had an AVSD, with 15 having common
atrium, and two had DOMV (4). The medical literature reported that there
are three morphological types of DOMV: central type, duplicate mitral
valve type, eccentric type. The most common type is the eccentric one
which is characterized by a large main opening and a smaller accessory
opening (6), which was the type we found during our surgery, and was
associated with PAVSD and common atrium. Regarding the ideal time for
surgical repair of CHD in patients with EVC syndrome, it has been
reported that delayed surgical repair was associated with reduction in
postoperative morbidity and improved survival (7). In our case, the
patient was referred to our hospital at the age of seven years, and the
decision of surgical repair was taken by the heart team. She remains
completely asymptomatic 6 months after surgery. The management of EVC
required the coordinated efforts of a multidisciplinary team of medical
professionals. We made a plan with our team of specialists to
systematically and comprehensively treat the patient. Moreover, genetic
counseling for the patient and her family is recommended.