Dilated Cardiomyopathy in a Woman With SPG4-Associated Hereditary Spastic Paraplegia

Abstract

Background: Hereditary spastic paraplegia (HSP) is primarily an inherited neurodegenerative disorder, although reports suggest possible systemic involvement. Cardiac manifestations in SPG4-HSP remain poorly understood, and dilated cardiomyopathy (DCM) has not previously been documented.

Case summary: A 54-year-old woman with genetically confirmed SPG4-HSP presented with progressive dyspnea and a new left bundle branch block. Echocardiography and cardiac magnetic resonance revealed nonischemic DCM with reduced ejection fraction and dyssynchrony. Alternative causes were excluded, and extended cardiomyopathy gene testing was negative. Guideline-directed medical therapy was initiated with symptomatic improvement at outpatient follow up, and she subsequently received cardiac resynchronization therapy with defibrillator given persistent low ejection fraction and dyssynchrony.

Discussion/novelty: To the best of our knowledge, this is the first reported experience of coexisting SPG4-HSP and idiopathic DCM. While causality remains uncertain, the case highlights a potential cardiac phenotype in SPG4 and underscores the importance of targeted cardiac evaluation in HSP patients presenting with exertional symptoms.

Take-home messages: Cardiac symptoms in SPG4-HSP warrant structured cardiac assessment. Standard heart-failure therapy and device management remain applicable.

Keywords: SPAST gene; SPG4; case report; dilated cardiomyopathy; heart failure; hereditary spastic paraplegia; neurogenetic disease.