The Value of Multimodal Imaging in Early Phenotyping of Cardiomyopathies: A Family Case Report

Abstract

Cardiomyopathies are structural and functional myocardial disorders that are not caused by other specific conditions such as coronary artery disease, arterial hypertension, valvular disease or congenital heart diseases. They are grouped into specific morphological and functional phenotypes, and sub-classified into familial and non-familial forms, with the dilated phenotype being the most frequent. However, there are many overlapping features between these phenotypes, complicating the diagnosis and management of patients. We report here the case of three related patients with different types of cardiomyopathies, emphasizing the importance of a multimodal approach to diagnosis.

Keywords

• hypokinetic non-dilated cardiomyopathy
• left ventricular non-compaction
• titin mutation
• imaging