Critical Care: Fellow Case Report Slide: Critical Care II |

Follow Your Heart: A Case of a Rare Neurologic Disorder Exposed With the Help of Critical Care Ultrasound FREE TO VIEW

Luis Quintero, DO; Matthew Sinclair, MD; Eric Gottesman, MD
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Northshore University Hospital, Manhasset, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):267A. doi:10.1016/j.chest.2016.08.280
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SESSION TITLE: Fellow Case Report Slide: Critical Care II

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Tuesday, October 25, 2016 at 07:30 AM - 08:30 AM

INTRODUCTION: Hereditary neurologic disorders are seldom seen as a reason for adult MICU consultation. When a patient is evaluated, it is important to perform a thorough examination, including ultrasound. A case is presented of a young woman who was found to have severe cardiac dysfunction in the setting of weakness and aphasia of unknown etiology.

CASE PRESENTATION: A 19 year old female was given tPA for acute aphasia and right sided hemiparesis. Her past medical history was significant for lower extremity weakness, elevated CK, and a muscle biopsy showing noninflammatory myopathy. In order to obtain an MRI brain, the patient required anesthesia because of excessive movement and agitation. She consequently experienced hypotention, tachycardia, worsening aphasia, and hemiparesis. Labs showed leukocytosis, lactic acidosis, and elevated CK. She was transferred to the MICU and bedside ultrasound demonstrated a severely reduced left ventricular function. She was promptly intubated and underwent ECMO. A myocardial biopsy with mitochondrial DNA analysis revealed an A-to-G transition in the tRNA at the nucleotide position of 3243. This was consistent with MELAS syndrome. The patient was given an LVAD and is currently awaiting a heart transplant.

DISCUSSION: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder first described in 1984. The disorder comes from a point mutation in mitochondrial DNA which causes an abnormal tRNA. MELAS syndrome is diagnosed if all three of the major criteria are met along with at least two minor criteria. (Table 1) This case is unusual because the patient’s decline occurred rapidly in the setting of anesthesia. A handful of case reports suggest that the use of certain anesthetics can cause exacerbation of mitochondrial disease. (Table 2) The use of bedside ultrasound helped aid in the identification of rapid decline in cardiac function, which quickly bridged the patient to ECMO. There is currently no cure for MELAS and patients are treated symptomatically. In extreme cases, heart transplant can resolve cardiac dysfunction related to mitochondrial disorders.

CONCLUSIONS: MELAS is a rare mitochondrial disease that can be exacerbated with certain medications. Critical care ultrasound is an imperative tool in identifying rapid deterioration in cardiac function.

Reference #1: El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1-2):4-12.

DISCLOSURE: The following authors have nothing to disclose: Luis Quintero, Matthew Sinclair, Eric Gottesman

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