Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

Abstract

We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

The SWI/SNF BAF-A complex is essential for neural crest development

“…Interestingly, one CSS patient with ARID1A mutations was diagnosed with phenotypic features similar to Hirschsprung’s disease, a known neurocristopathy (Santen et al, 2013). We failed to detect heart defects in heterozygous Arid1a fl/+ ; Wnt1Cre mice, despite the observation that the most frequent complications observed in CSS patients with BAF complex mutations are palatal abnormalities and heart defects (Coulibaly et al, 2010; Kosho et al, 2014; Kosho et al, 2013; Nemani et al, 2014; Santen et al, 2013). In spite of these mouse-human differences, some of the shared phenotypic features observed in CSS patients are found among other human neurocristopathies, such as CHARGE syndrome, or conferred through the phenotypes observed in ARID1A NCC mutant embryos.…”

“…CSS patients with heterozygous loss-of-function (haploinsufficient) ARID1A mutations manifest the most severe defects, and most ARID1A mutations are predicted to be mosaic in somatic tissues (Coulibaly et al, 2010; Kosho et al, 2014; Kosho et al, 2013; Nemani et al, 2014; Santen et al, 2013). Interestingly, one CSS patient with ARID1A mutations was diagnosed with phenotypic features similar to Hirschsprung’s disease, a known neurocristopathy (Santen et al, 2013).…”

“…The most severe cases of CSS result in intrauterine or early childhood death with associated cardiac defects (Coulibaly et al, 2010; Kosho et al, 2014; Kosho et al, 2013; Nemani et al, 2014; Santen et al, 2013). Remarkably, 87% of individuals with CSS have de novo autosomal dominant mutations in one of six SWI/SNF chromatin-remodeling complex subunits, including ARID1A, ARID1B, BRG1, BRM, SNF5/INI1, or BAF57 (Kosho et al, 2014; Kosho et al, 2013; Santen et al, 2012; Tsurusaki et al, 2012).…”

Persistent Left Superior Vena Cava with Absent Right Superior Vena Cava and Discrete Subaortic Stenosis Diagnosed in a Patient with Sick Sinus Syndrome: A Case Report and Brief Review of the Literature

“…To the best of our knowledge, there has only been one further case reported with this association of anomalies [ 9 ]. The other published cases of discrete subaortic stenosis and a left-sided vena cava do not offer details about the status of the right-sided vena cava, and several include complex malformative syndromes [ 10 , 11 , 12 , 13 , 14 ]. The purpose of the following discussion is to address the main characteristics of this venous anomaly.…”

Intellectual Disability: When the Hypertrichosis Is a Clue

“…Additionally, there may be seizures, feeding difficulties, hypotonia, short stature, and microcephaly, while isolated or multiple congenital anomalies, as heart defects and hearing impairment, seem to be rare, 29,30 even if a casuistry estimates that the rate of heart malformations may be approximately 30%. 31 Regarding the hair, almost all the patients show low anterior hairline with sparse scalp hair with hair shaft abnormalities including trichoschisis and trichorrhexis nodosa-like defects at light microscopy examination. 32 On the contrary, hypertrichosis is usually present all over the body.…”