Keywords:
Cardiac, MR, Imaging sequences, Hyperplasia / Hypertrophy
Authors:
M. Baptista1, P. Donato2; 1Beja/PT, 2Coimbra/PT
Purpose
Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiomyopathy,
with a prevalence of 1:500 (1,4) and typically presents autosomal dominant inheritance.
However recessive,
x-linked and mitochondrial line patterns have been described.
Phenotypic expression is heterogeneous,
penetrance incomplete and age of onset variable,
even though it usually presents in the young.
All mutations affect sarcomere proteins.
HCM is a clinically heterogeneous condition that can present with sudden death.
It is the most common cause of sudden death in the young,
that is why an early diagnosis is crucial and a non-invasive test,
such as Magnetic Resonance imaging (MRI),
important.
HCM is characterised by left ventricle hypertrophy (LVH; Fig 1.) and the diagnosis is largely based on imaging features.
The authors review the morphologic and functional cardiac MRI (CMR) changes found in HCM.
Fig. 1: Cadaver heart with HCM, short axis slices. Notice asymmetric hypertrophy with predominant septal involvement (S). The right ventricle (RV) is not affected.
References: Radiology Department, Coimbra University Hospital