About Restrictive Cardiomyopathy
Restrictive Cardiomyopathy is the rarest primary cardiomyopathy, characterised by impaired ventricular filling due to abnormal myocardial stiffness in the absence of pathological hypertrophy or dilatation, resulting in severely elevated filling pressures, biatrial enlargement, and refractory heart failure. Genetic forms are caused by mutations in sarcomeric protein genes, particularly TNNI3 and TNNT2, while secondary forms arise from infiltrative diseases such as amyloidosis, sarcoidosis, and haemochromatosis. Prognosis is poor, especially in children, with many patients requiring cardiac transplantation within years of diagnosis.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Restrictive Cardiomyopathy trials.
Excluding secondary causes of restriction (amyloidosis, sarcoidosis, haemochromatosis, radiation) is mandatory before enrolment in idiopathic RCM trials; an infiltrative disease workup including cardiac MRI and metabolic studies should be completed.
Haemodynamic data from right heart catheterisation (elevated filling pressures, preserved cardiac output at rest) are often required to confirm the restrictive physiology classification used for eligibility.
Genetic testing to identify sarcomere mutations links some patients to broader inherited cardiomyopathy trials; obtain panel results as they may open additional eligibility pathways.
Patient Resources
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