2026 FSA Podium and Poster Abstracts

Introduction/Background: Danon disease is an X-linked dominant disorder characterized by a classic triad of severe hypertrophic cardiomyopathy, skeletal myopathy, and cognitive impairment. Mutations in the lysosome-associated membrane protein 2 (LAMP-2) lead to a deficiency in the associated protein. The primary pathophysiology involves a disruption of lysosomal autophagy, causing an accumulation of glycogen and cellular debris particularly in cardiac and skeletal muscle. With limited literature regarding this pathology, this presentation aims to describe the perioperative management and anesthetic implications of a patient with Danon Disease undergoing cardiac catheterization complicated by left main coronary spasm and PEA arrest.

Methods: We present the case of a 30-year-old female, ASA class IV, with hypertrophic cardiomyopathy due to Danon Disease s/p orthotopic heart transplantation on 05/20/2018, complicated by grade 3R rejection s/p treatment and improvement to grade 0R, who initially presented for a right and left heart catheterization to evaluate chest pain and syncope. Other relevant history included allergies to iodine, shellfish, and morphine. Preoperative vital signs, CBC, and BMP were all within normal limits. Recent echo showed EF of 57% with mild mitral regurgitation and aortic valve insufficiency. EKG showed normal sinus rhythm, right bundle branch block, and nonspecific T-wave abnormalities.

Results: Given the patient’s history of various uncomplicated catheterizations, the anesthetic plan remained consistent. The patient was initially premedicated with 2mg of midazolam. We proceeded with the combined plan of MAC with local anesthesia of 2% lidocaine in the right groin administered by the interventional cardiologist. The patient was intravenously induced with 50mcg of fentanyl, 20mcg of dexmedetomidine, and placed on a propofol infusion at 1.9mg/min, as well as a dexmedetomidine infusion of 0.5mcg/kg/hr. The total doses for propofol and dexmedetomidine throughout the case were 102mg and 68mcg, respectively. The patient remained hemodynamically stable throughout initial diagnostic angiography and right heart catheterization. Upon proceeding to evaluation of the left coronary system and an attempt at placement of the IVUS, the LAD went into severe spasm. This resulted in profound hypotension followed by PEA arrest, and the patient went into 2:1 AV block. At this time, CPR was initiated. The patient received epinephrine boluses for a total of 150mcg, 0.4mg of phenylephrine, and 1g of calcium chloride. Simultaneously, the case was converted from MAC to general anesthesia through RSI with 14mg of etomidate and 100mg of rocuronium. A transvenous temporary pacemaker was also inserted. Upon achieving ROSC within 5 minutes, the pacemaker was removed and an Impella CP was inserted. Finally, the coronary vasospasm resolved, and the patient regained hemodynamic stability.

Discussion/Conclusion: The case presented highlights the high-risk nature of typically routine procedures in patients with Danon Disease. From the cardiac perspective, both severe cardiomyopathy and significantly increased risk of arrhythmia pose unique challenges perioperatively. Skeletal muscle involvement and mitochondrial dysfunction warrant avoidance of volatile anesthetics due to risk of malignant hyperthermia and rhabdomyolysis. Therefore, extensive preoperative cardiac evaluation, TIVA, and maintaining vigilance for early signs of rapid decline constitute the best approach for patients with Danon Disease undergoing anesthesia.