Disclosures: Tejas Shah, MD : No financial relationships or conflicts of interest

Case Diagnosis: We present an Emery-Dreifuss Muscular Dystrophy (EDMD) patient who developed new onset bilateral lower extremity (BLE) weakness after a recent orthoptic heart transplant (OHT).

Case Description or Program Description: A 26-year-old female with a past medical history of epilepsy, stroke and EDMD (type two) associated with end stage cardiomyopathy (ESC) presented with acute on chronic heart failure. Hospital course was further complicated by new right lower extremity ischemia following a ventricular tachycardia arrest requiring a superficial femoral artery cannula placement. Given her ESC, she underwent an OHT. Her post-operative course was complicated with delirium, managed with Quetiapine and Haloperidol. She then developed new onset BLE weakness with neuropathy after a right heart catheterization. Neurological workup revealed a small left splenium infarct. She next underwent an electromyography (EMG) of the bilateral lower extremities which showed early motor recruitment of the proximal muscles and evidence of polyneuropathy.

Setting: Inpatient Teaching Hospital

Assessment/Results: The patient had extensive rehabilitation for thirty days and made functional gains in her ambulation and activities of daily living.

Discussion (relevance): EDMD occurs secondary to an inherited X-lined or autosomal mutation involving various nuclear envelope proteins. These patients present with contractures commonly in the para-spinal or cervical musculature, cardiac conduction defects and myopathy. Rarely, patients require an OHT. Unlike other dystrophies, cardiac involvement in EDMD predominates locomotor symptoms but typically presents in the second decade of life. Although OHT are becoming more common in this population, this case highlights the uniqueness of BLE weakness that may be tied to the transplant and requires further evaluation. Multiple etiologies exist including iatrogenic peripheral nerve injury or anoxic brain injury from the cardiac arrest. Her EMG points to a peripheral neuropathy rather than a stroke or spinal cord injury.

Conclusions: As OHT are increasing in the EDMD population, BLE weakness can present a related complication.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/unique-case-of-an-emery-dreifuss-muscular-dystrophy-patient-with-new-onset-bilateral-lower-extremity-weakness-following-a-heart-transplant/