The first reported case of SPG4 with dilated cardiomyopathy

A plain-language summary of a published scientific study. It is educational and does not replace medical advice.

The study: Gude S et al., JACC: Case Reports, published online 3 June 2026[1]. A case report. Free full text.

What happened

A 54-year-old woman with genetically confirmed SPG4 saw her doctor because of worsening breathlessness and a new left bundle branch block, a delay in the heart's electrical signal[1]. Ultrasound and cardiac MRI showed non-ischaemic dilated cardiomyopathy: the heart was enlarged and pumping weakly, and the cause was not narrowed arteries. The heart's contraction was also out of sync[1].

What the doctors found

• Other causes were ruled out, and an extended genetic test for cardiomyopathies was negative[1].
• With standard heart-failure treatment her symptoms improved. Because her heart function stayed low, she received a device that resynchronises the heartbeat and can stop a dangerous arrhythmia[1].
• Her mother also had HSP and heart failure (see the figure)[1].
• To the authors' knowledge, this is the first reported case of SPG4 together with this heart condition[1].

Figure 1 from the study: the family tree. The patient (arrow) carries the SPG4 variant and developed heart failure, as did her mother. Source: Figure 1 from Gude S et al. “Dilated Cardiomyopathy in a Woman With SPG4-Associated Hereditary Spastic Paraplegia.” JACC Case Rep 2026. doi:10.1016/j.jaccas.2026.108746. Licensed CC BY-NC-ND 4.0.

What it means for families

The authors recommend a structured heart assessment for people with SPG4 who have heart symptoms, such as breathlessness on exertion. Standard heart treatments still apply[1]. A commentary by two cardiologists in the same journal also suggests an electrocardiogram as a simple test[2].

What the study does not tell us yet

This is a single case. The authors state clearly that it cannot be said whether SPG4 caused the heart condition[1]. There is no evidence that SPG4 commonly affects the heart.