May 14, 2013
A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
Structured PICO
Does the presence of sarcomeric protein mutations associate with specific clinical features in patients with hypertrophic cardiomyopathy?
P
Population
Patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
I
Intervention
Presence of a mutation in any sarcomere gene
O
Outcome
Genotype-phenotype associations (clinical features, disease severity, and prognosis)
Current evidence is too heterogeneous to establish precise genotype-phenotype relationships for sarcomeric mutations in hypertrophic cardiomyopathy, highlighting the need for larger standardized studies.
Abstract
The presence of a mutation in any sarcomere gene is associated with a number of clinical features. The heterogeneous nature of the disease and the inconsistency of study design precludes the establishment of more precise genotype-phenotype relationships. Large scale studies examining the relation between genotype, disease severity, and prognosis are required.
Connected Papers
Building similarity graph...
Analyzing shared references across papers
Discussion
Loading...
Authors
L
Luís R. Lopes
Cardiac Imaging
M
Mohammad Shafiqur Rahman
Chittagong University of Engineering & Technology
Perry Elliott
Heart Failure & Transplant
Journals
Heart
Actions
Institutions
University College London
University of Dhaka
References and Citations
Connected Papers
Building similarity graph...
Analyzing shared references across papers
Discussion
Loading...