Internships with Impact: Kenna Saiidi

student and mentor pictured at AAFS presenting poster, picture horizontal

Kenna Saiidi (Class of 2028) interned at the Cook County Medical Examiner’s Office (CCMEO) in summer 2025.  During her internship, an unusual case of sudden cardiac death came through the office.  With the assistance of her mentors, Dr. Tracy Wadsworth and Dr. Lorenzo Gitto, Kenna presented this case study at the 2026 American Academy of Forensic Sciences meeting. 

Congratulations, Kenna!

Title: Sudden Cardiac Death in Undiagnosed Late Stage Pompe Disease

Abstract: Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by biallelic mutations in the GAA gene, leading to deficiency of lysosomal acid maltase (acid alpha-glucosidase). This results in pathological glycogen accumulation, disrupting cellular metabolism and affecting muscle, connective tissue, and organ systems. While Infantile-Onset Pompe disease (IOPD) typically presents with severe cardiac and skeletal muscle involvement, LOPD may remain undiagnosed until adolescence or adulthood, with progressive skeletal muscle weakness, diaphragmatic insufficiency, and less frequent—but possible—cardiac involvement.

This case presents a 21-year-old White male with a childhood history of heart murmur, transient speech delay, and hearing loss, who experienced sudden cardiac death during meditation. Witnesses reported abnormal breathing, snoring, and shaking. Despite prompt resuscitation, he was pronounced deceased. Postmortem examination revealed cerebral edema, pulmonary congestion and edema, and cardiomegaly with a bulbous heart. Histologic evaluation showed an early circumferential acute myocardial infarction in an arrhythmogenic distribution, left ventricular hypertrophy, myxomatous aortic valve, coronary fibromuscular dysplasia, and cardiomyocyte hypertrophy with mild disarray. Toxicology was non-contributory. Molecular testing identified a homozygous pathogenic variant in the GAA gene, confirming the diagnosis of LOPD.

LOPD is the most prevalent form of Pompe disease, typically presenting in childhood or adulthood, affecting an estimated 1 in 8,000 to 1 in 30,000 individuals in the United States. Diagnosis involves genetic testing, enzyme activity assays, and Cross-reactive Immunologic Material (CRIM) status to predict prognosis and response to Enzyme Replacement Therapy (ERT),the primary treatment. Morbidity stems from progressive muscle weakness leading to diaphragmatic insufficiency, gait abnormalities, respiratory failure, and death. Cardiac involvement is less frequent than in IOPD, but hypertrophic cardiomyopathy and life-threatening arrhythmias can still occur. Although respiratory failure remains the leading cause of death for Pompe disease, sudden cardiac death may occur particularly if undiagnosed and untreated. Untreated LOPD reduces life expectancy by 10 to 30 years. Enzyme replacement therapy improves quality of life and allows many patients to survive into late adulthood. Nationwide newborn screening, initiated in 2015, enhances early diagnosis and survival. In this case, screening was unavailable at birth, delaying diagnosis. Therefore, it highlights the importance of newborn screening in preventing similar avoidable deaths and underscores the need for genetic testing in suspicious cases.