Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE)

Department

Internal Medicine

Document Type

Article

Publication Title

Cureus

Abstract

Kabuki syndrome (KS) is a rare genetic syndrome with an unknown exact etiology with suggestive autosomal dominant inheritance pattern with variable expressivity and environmental influences. KS is diagnosed based on five cardinal signs: craniofacial dysmorphia, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and postnatal growth deficiency. An eight-year-old Jordanian girl was diagnosed with KS based on characteristic clinical features at the age of four. The patient presented typical facies of KS, with elongated palpebral fissure and the eversion of the lateral part of the lower 1/3 of the eyelid; skeletal and limb abnormalities, including the early closure of the anterior fontanel; cardiogenic manifestations; global developmental delays; moderate hearing impairment; and strabismus with bilateral hyperopia. Patients with KS have various skeletal, mainly cranial, anomalies, including coronal and metopic synostosis. Cardiac malformations and aortic coarctation more commonly occur in male KS patients, supporting the X-linked hypothesis. The most common ophthalmic abnormalities in KS are strabismus and ptosis. In addition, both dental and otologic problems are common in KS. Finally, mild to moderate cognitive impairment in KS leads to significant language delays. KS is primarily diagnosed based on clinical presentation even with significant variability in the associated anomalies. In this case, we discuss the first female Kabuki syndrome (KS) patient in the United Arab Emirates (UAE) who presented with moderate to severe aortic coarctation and underwent corrective surgery with balloon dilation twice at the age of four. The patient underwent confirmatory genetic testing, identifying a heterozygous variant in the KDM6A gene. A multidisciplinary team including a general pediatrician, cardiologist, neurologist, orthopedics specialist, ophthalmologist, otolaryngologist, and other specialties is needed to improve the course and prognosis of KS patients and to enhance the quality of life.

First Page

e80981

DOI

10.7759/cureus.80981

Volume

17

Issue

3

Publication Date

3-1-2025

PubMed ID

40260358

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