Cardiac arrhythmia and death of teenager linked to rare genetic disorder diagnosed at autopsy.
A 17-year-old male adolescent sustained cardiac arrest after participating in a wrestling match, where he was thrown down. He had no pulse, and cardiopulmonary resuscitation was immediately initiated along with application of an automatic external defibrillator. Upon arrival of emergency medical services, an electrocardiogram showed the patient to be in ventricular tachycardia, torsades, and ventricular fibrillation. The patient was ultimately transported to the hospital and, with ACLS protocol being performed, was resuscitated to a junctional rhythm with bradycardia and borderline prolonged QT. His hospital stay was characterized by refractory cardiac failure, and 2 days after the incident, a decision was made to remove him from life support. At autopsy, there were no external or internal injuries that could be considered a contributing cause of death. On external examination, observations were made about the decedent's facial features including his nose, eyes, ears, fingers, and toes. A careful review of the decedent's medical history was initiated to reveal birth defects including syndactyly of the third and fourth digit of the upper extremity as well as complete lack of dental enamel. A tentative diagnosis of oculodentodigital dysplasia was made and confirmed by genetic testing of heart muscle taken from the decedent. This case report examines the rare association of oculodentodigital dysplasia with cardiac arrhythmia as well as places emphasis on the features of the disorder that can aid in its diagnosis.
From the *Clinical Emergency Medicine, Indiana University, Indianapolis, IN; and †Coroner's Office, Arapahoe County Government, Centennial, CO.The authors report no conflicts of interest.
Jennifer Sue
JS
Quick
Michael
M
Dobersen
D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000209:etiology*; D002312:Cardiomyopathy, Hypertrophic / Q000473:pathology; D018031:Connexin 43 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004562:Electrocardiography; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D053803:Forensic Genetics; D006323:Heart Arrest / Q000209:etiology*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology; D013576:Syndactyly / Q000175:diagnosis* / Q000235:genetics; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000235:genetics
D018031:Connexin 43; C500216:GJA1 protein, human