Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation

J Cardiovasc Med (Hagerstown). 2017 Oct;18(10):835-836. doi: 10.2459/JCM.0000000000000538.

Authors

Pierluigi Lesizza¹, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra

Affiliation

¹ Cardiovascular Department, Azienda Sanitaria Universitaria Integrata of Trieste 'ASUITS', Trieste, Italy.

PMID: 28650931
DOI: 10.2459/JCM.0000000000000538

No abstract available

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Hypertrophic / diagnostic imaging
Cardiomyopathy, Hypertrophic / genetics*
Cardiomyopathy, Hypertrophic / pathology
Cardiomyopathy, Restrictive / diagnostic imaging
Cardiomyopathy, Restrictive / genetics*
Cardiomyopathy, Restrictive / pathology
Connectin / genetics
Female
Genotype
Heart / diagnostic imaging
Humans
MAP Kinase Kinase Kinases / genetics
Myocardium / pathology
Phenotype
Protein Serine-Threonine Kinases
Proto-Oncogene Proteins p21(ras) / genetics
Young Adult

Substances

Connectin
KRAS protein, human
TTN protein, human
Protein Serine-Threonine Kinases
TNNI3K protein, human
MAP Kinase Kinase Kinases
Proto-Oncogene Proteins p21(ras)