Restrictive cardiomyopathy


Normal Case/Contol

GWAS of 0001723

Sibling Case/Control

No sibling GWAS available 0001723


Case Control
886 459308

Phenotype Definition

Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. [HPO:probinson, PMID:17916581]

Phenotype Comment

Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM.

Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: I319 Disease of pericardium, unspecified 10/20