BILATERAL CONGENITAL MYDRIASIS IN A CHILD WITH CONGENITAL HEART DISEASE: A CASE REPORT
##plugins.themes.vojs.article.main##
Abstract
Background: Congenital mydriasis is a rare condition characterized by the absence of the iris sphincter muscle, typically showing autosomal dominant inheritance. Studies show that this condition is caused by an ACTA2 R179H gene mutation, resulting in a multisystemic smooth muscle dysfunction syndrome that afects multiple organs throughout the body, leading to cardiovascular, gastrointestinal, and pupillary abnormalities.
Case report: We present the case of a 2-month-old female admitted with a diagnosis of aortopulmonary window (APW), with a proximal aortic diameter of 15.3mm, a proximal pulmonary artery diameter of 13.5mm, length of 1.6mm. The patient successfully underwent surgical closure of APW with 79 minutes of bypass, aortic cross-clamp time of 39 minutes, low-fow duration of 22 minutes, and the lowest intraoperative cerebral oxygen saturation of 53. Postoperative check shows that patients had poor light refexes with pupillary diameters of 3-4mm. The patient was extubated in the SICU, remained alert and responsive to verbal stimuli, and showed no focal neurological signs or defcits.
Discussion: Through this case, we reviewed the literature on clinical and treatment outcomes and found that the condition is often easily overlooked or misdiagnosed during routine examinations and treatment. In open-heart surgery, alongside repairing structural cardiac defects, the prevention of perioperative complications such as bleeding and neurological injury is crucial.
Conclusions: This case highlights the importance of thorough preoperative screening for rare ocular fndings such as congenital mydriasis, particularly in patients undergoing open-heart procedures. When neurological complications occur, determining the cause and treatment strategy becomes challenging without thorough preoperative screening and monitoring.
##plugins.themes.vojs.article.details##
Keywords
Congenital mydriasis, Open-heart surgery, multisystemic smooth muscle dysfunction syndrome
References
2. Milewicz DM, Østergaard JR, Ala-Kokko LM et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010;152A(10):2437–2443.https://doi.org/10.1002/ajmg.a.33657
3. Roulez FMJ, Faes F, Delbeke P et al. Congenital fxed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome. J Neuroophthalmol 2014;34(2):137-143. https://doi.org/10.1097/wno.0000000000000090
4. Martin KA, Merenick Bl, Ding M et al. Rapamycin Promotes Vascular Smooth Muscle Cell Diferentiation through Insulin Receptor Substrate-1/Phosphatidylinositol 3-Kinase/Akt2 Feedback Signaling. J Biol Chem 2007;282(49):36112-36120. https://doi.org/10.1074/jbc.m703914200
5. Adès LC, Davies R, Haan EA et al. Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. Clin Dysmorphol 1999;8(4):269-76.
6. Richardson P, Schulenburg WE. Bilateral congenital mydriasis. Br J Ophthalmol 1992;76(10):632–3. https://doi.org/10.1136/bjo.76.10.632
7. Scheeren T W L, Schober P, Schwarte LA. Monitoring tissue oxygenation by near infrared spectroscopy (NIRS): background and current applications. J Clin Monit Comput 2012;26(4):279–287. https://doi.org/10.1007/s10877-012-9348-y