A novel Troponin I mutation associated with severe restrictive cardiomyopathy-a case report of a 27-year-old woman with fatigue.

Diagnosis of restrictive cardiomyopathy is complicated by often oligosymptomatic early presentation and a diverse clinical picture. Thorough medical and family history and early invasive haemodynamic tracing are indispensable in diagnosis. Therapy-refractory AF should raise suspicion. Reporting of longitudinal follow-up cases is essential to better understand the early symptoms, development, and prognosis of this rare disease. Broad genetic testing in unclear cases has become more available and affordable and should be considered early in the diagnostic workflow.