A special case of hypertrophic cardiomyopathy with a differential diagnosis of isolated cardiac amyloidosis or junctophilin type 2 associated cardiomyopathy.

Differential diagnosis between hypertrophic cardiomyopathy (HCM) and cardiac amyloidosis (CA) is mandatory since the prognosis is very different, but not always possible as both diseases present with increased myocardial thickness and mass. Despite better knowledge of the pathophysiology of both HCM and CA, and new developments in diagnosis, many patients with cardiac involvement in systemic amyloidosis are still only diagnosed in an advanced stage. Improvements in non-invasive diagnostic methods such as ultrasound techniques and cardiac magnetic resonance imaging will eventually obviate the need for invasive studies in order to prove amyloid cardiomyopathy. Nevertheless, today, an endomyocardial biopsy still remains the golden standard. We present an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause. Interestingly, a new variant of the junctophilin 2 (JPH2) gene, related to hypertrophic cardiomyopathies, was found in our patient.