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CASE REPORT
Year : 2021 | Volume
: 10
| Issue : 3 | Page : 238-241
A “CHAR” Ming syndrome: Heart, bone, and eye
Anusha Mruthyunjayaswamy, Smitha Bhat
Department of Medicine, Father Muller Medical College, Kankanady, Mangalore, Karnataka, India
Correspondence Address:
Dr. Smitha Bhat
Department of Medicine, Father Muller Medical College, Kankanady, Mangalore, Karnataka
India
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/ijhas.IJHAS_206_20
Heart diseases are common congenital anomalies, with a prevalence of 8–12 per 1000 live births. Several genetic syndromes are associated with specific cardiac anomalies and Char was the first to describe a syndrome associated with patent ductus arteriosus (PDA) and various features, including a short philtrum, duck bill lips, ptosis, low set ears, and short fifth digits in both hands and feet. Here, we report a case of a 20-year-old male who presented with the triad of char syndrome, that is, a PDA with a shunt reversal, facial dysmorphism, and skeletal abnormalities. Additionally, he had congenital deafness and both eyes iris coloboma, a rare association which has never been reported so far. Char syndrome is rare; only a few cases have been reported worldwide, and almost none from our region.
Keywords: Char syndrome, genetic syndrome, patent ductus arteriosus, TFAP2B mutation
Congenital heart disease is the most common major malformation, occurring in 8–12 per 1000 live births.[1] Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: A distinctive facial appearance, a heart defect-patent ductus arteriosus (PDA), and hand abnormalities.[2] Char syndrome is rare in India.[3] Here, we report a patient who had the complete triad of char syndrome along with a constellation of new findings such as iris coloboma and congenital deafness.
Case ReportA 20-year-old male with congenital deafness and mutism, delayed milestones, and failure to thrive during infancy presented with a history of gradually progressive chest pain and breathlessness since the 3 months preceding the admission. He complained of fever and cough with expectoration for the past 1 week. On examination, he had tachycardia, but a normal blood pressure was recorded in all four limbs. He also had pallor, clubbing, and cyanosis in the left upper limb and bilateral lower limbs. Dysmorphic features included flattened cheek bones, a flat nasal bridge with down slanting palpebral fissures, wide set eyes (interpupillary distance = 8 cm and inner intercanthal distance = 3 cm), and low set ears [Figure 1], [Figure 2], [Figure 3]. Pes cavus was noticed in both feet as well as abnormally short fifth digits [Figure 4] and [Figure 5]. A finding not heretofore reported in Char syndrome was the bilateral iris coloboma and eccentric pupils [Figure 6].
The cardiac examination revealed a precordial bulge, visible and palpable P2, Grade 2 parasternal heave, and a diffuse apex beat felt best in the left fifth intercostal space along the mid clavicular line. Auscultation revealed a loud P2 and an ejection systolic murmur in the left second intercostal space. Interestingly, the pulse oximeter read a SpO2 of 85% in the right upper limb and 45% in the left upper limb in room air.
The electrocardiogram showed sinus tachycardia, right axis deviation, right ventricular hypertrophy, and a right ventricular strain pattern [Figure 7]. The chest X-ray revealed left lower lobe consolidation with synpneumonic effusion. The two-dimensional ECHO confirmed the presence of the PDA with a bidirectional flow, severe PAH, mild TR, dilated RA, and RV, indicating a reversal of shunt. Although there was iris atrophy, vision and intraocular pressure in both eyes was normal.
Treatment
Since the presenting complaints and chest radiography were suggestive of left lower lobe pneumonia and synpneumonic effusion, the patient was treated with intravenous antibiotics (ceftriaxone) for 5 days along with antipyretics. At the time of discharge, he was started on low dose of diuretics (torsemide) and PDE inhibitor (sildenafil). Evaluation of the deafness was planned for a later visit, but he was lost to follow-up.
DiscussionChar syndrome is an autosomal dominant disorder, characterized by the triad of PDA, facial dysmorphism, and abnormalities of the fifth finger. Several studies have linked Char syndrome to chromosome 6p12. So far, six missense mutations related to the disease have been identified in the TFAP2B gene. This transcription factor plays an important role in cardiac morphogenesis, especially in the outflow tract formation.[4] The exact incidence of the disease is unknown and so far only few families with this condition have been identified. The presence of PDA with a shunt reversal due to secondary pulmonary hypertension led us to the suspicion of Char syndrome in our patient.
The characteristic facial appearance described in Char syndrome includes flattened cheek bones, flat nasal bridge, wide set eyes, down slanting palpebral fissures, short philtrum, thick prominent lips, and a triangular mouth.[5] Our patient had the initial four described features as well as the characteristic short fifth digits in both feet. The features atypical of Char syndrome included high arched palate, low set ears, and pes cavus.
Our patient also had iris coloboma in both eyes which is a common finding described in the iridocorneal endothelial (ICE) syndrome.[6] However, ICE syndrome is characterized by corneal failure, glaucoma, and iris destruction resulting in “hammered-silver” corneal endothelium and other abnormalities such as nodules, atrophy, distortion, and synechiae, but none of these were present in our patient. Hence, the possibility of this was ruled out.
CHARGE association, a nonrandom association of congenital anomalies due to a heterozygous mutation of CHD7 gene was considered, in view of the iris coloboma, congenital deafness, and cardiovascular malformations.[7] However, our patient did not have the other associated anomalies-choanal atresia, genital hypoplasia, spine defects, and cranial nerve anomalies. In addition, the presence of PDA made CHARGE association less likely.
Ideally, genetic studies to confirm the presence of TFAP2B would have been done. However, a recent study has identified the presence of TFAP2B mutations in nonsyndromic PDA as well, and hence, this is not a specific marker.[8]
ConclusionA syndromic approach is required to identify atypical presentations of genetic anomalies. The awareness of these syndromes will help in suspecting, diagnosing, and possibly treating systemic anomalies associated with the characteristic dysmorphic features.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
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