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Heart Fail Clin. 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005.

Genetics of restrictive cardiomyopathy.

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Faculty of Medicine, Imperial College, St Mary's Campus, Norfolk Place, London, UK.


Restrictive physiology, a severe form of diastolic dysfunction, is characteristically observed in the setting of constrictive pericarditis and myocardial restriction. The latter is commonly due to systemic diseases, some of which are inherited as mendelian traits (eg, hereditary amyloidosis), while others are multifactorial (eg, sarcoidosis). When restrictive physiology occurs as an early and dominant feature of a primary myocardial disorder, it may be termed restrictive cardiomyopathy. In the past decade, clinical and genetic studies have demonstrated that restrictive cardiomyopathy as such is part of the spectrum of sarcomeric disease and frequently coexists with hypertrophic cardiomyopathy in affected families.

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