Introduction
2q37 deletion syndrome is a chromosomal condition in which the patient has lost a small portion of genetic material. The deletion of the 2q37 gene can result in chromosomal breaks in three different bands: 2q37.1, 2q37.2, and 2q37.3. The 2q37 region in the long q arm of chromosome 2 is divided into three cytogenic areas with a subsequent 179 genes inside them. However, only 11 genes are related to the 2q37 deletion syndrome. The lost material is variable and found in one of the patient’s 2 chromosome 2s [1]. The majority of patients with the 2q37 microdeletion syndrome are isolated cases with normal parenteral phenotype-karyotype [2]. The patient’s development is affected, but how the patient is affected, or the affection rate varies widely and even differs for people who lost the same DNA. The usual characteristics found in babies include low muscle tone and feeding difficulties. Later, the patient suffers from developmental delay, learning disabilities, changes in appearance, and low muscle tone. Asthma and ear and chest infections are common. Seizures occur in some patients. Patients mostly presented with brachycephaly, obesity, hypotonia, failure to thrive, seizures, digit abnormalities, and autism. Facial dysmorphia differs from one to another; any of these features may be present (prominent forehead, sparse, flared medial eyebrows, depressed nasal bridge, V-shaped nasal tip, high-arched palate, alopecia totalis, boxy skull with prominent forehead, up-slanting palpebrae [3-4]. The 2q37 deletion syndrome can also cause gastrointestinal anomalies, such as pyloric stenosis [5], and central nervous system (CNS) anomalies, such as holoprosencephaly [6]. In this case, the cardiological malformation associated with the 2q37 deletions is apparent. Nearly 20% of patients have cardiac anomalies such as ventricular septal defects and aortic coarctation [7]. Following an exhausting (English) literature search, this is the first case with 2q37 deletion syndrome presented with cardiac anomalies being reported.