Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 May 16;12(10):3481.
doi: 10.3390/jcm12103481.

Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management

Roberto Licordari  1 , Giancarlo Trimarchi  2 , Lucio Teresi  2 , Davide Restelli  2 , Francesca Lofrumento  2 , Alessia Perna  2 , Mariapaola Campisi  1 , Cesare de Gregorio  2 , Patrizia Grimaldi  2 , Danila Calabrò  2 , Francesco Costa  1 , Antonio Giovanni Versace  2 , Antonio Micari  1 , Giovanni Donato Aquaro  3 , Gianluca Di Bella  2
Affiliations
Review

Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management

Roberto Licordari et al. J Clin Med. .

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by the thickening of the heart muscle, which can lead to symptoms such as chest pain, shortness of breath, and an increased risk of sudden cardiac death. However, not all patients with HCM have the same underlying genetic mutations, and some have conditions that resemble HCM but have different genetic or pathophysiological mechanisms, referred to as phenocopies. Cardiac magnetic resonance (CMR) imaging has emerged as a powerful tool for the non-invasive assessment of HCM and its phenocopies. CMR can accurately quantify the extent and distribution of hypertrophy, assess the presence and severity of myocardial fibrosis, and detect associated abnormalities. In the context of phenocopies, CMR can aid in the differentiation between HCM and other diseases that present with HCM-like features, such as cardiac amyloidosis (CA), Anderson-Fabry disease (AFD), and mitochondrial cardiomyopathies. CMR can provide important diagnostic and prognostic information that can guide clinical decision-making and management strategies. This review aims to describe the available evidence of the role of CMR in the assessment of hypertrophic phenotype and its diagnostic and prognostic implications.

Keywords: cardiac magnetic resonance; hypertrophic cardiomyopathy; phenocopies.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(A) A cine-bSSFP 4-chamber image in a telediastole, showing a case of asymmetrical HCM with a thickened interventricular septum. (B) A cine-bSSFP 3-chamber image in a telediastole, showing an apical form of HCM. (C) An LGE 3-chamber image showing transmural LGE in left ventricular apex with aneurysmal dilatation, with a thrombus inside (red arrow). (D) A mid-ventricular short axis LGE image showing mid-wall LGE in the interventricular septum, in particular in the RV/LV insertion points.
Figure 2
Figure 2
(A) Mid-ventricular short axis cine-bSSFP image in a telediastole, and (B) cine-bSSFP 4-chamber image in a telediastole, both showing a case of cardiac amyloidosis with asymmetric septal LV hypertrophy. (C) Mid-ventricular short axis T1 map showing a diffuse intramyocardial T1 values increase. (D) Mid-ventricular short axis ECV map showing a diffuse increase of extracellular volume. (E) 4-chamber LGE image and (F) mid-ventricular short axis LGE image, both showing diffuse LV and RV LGE with inappropriate myocardial nulling.
Figure 3
Figure 3
(A) Mid-ventricular short axis cine-bSSFP image in telediastole and (B) cine-bSSFP 4-chamber image in telediastole, both showing a case of Anderson–Fabry disease with asymmetric septal LV hypertrophy. (C) Mid-ventricular short axis LGE image showing mid-wall LGE in inferoseptum and inferior wall. (D) Mid-ventricular short axis T1 map showing a diffuse reduction of intra-myocardial T1 values, with T1 pseudo-normalization in segments with LGE.
See this image and copyright information in PMC

References

    1. Elliott P., Andersson B., Arbustini E., Bilinska Z., Cecchi F., Charron P., Dubourg O., Kühl U., Maisch B., McKenna W.J., et al. Classification of the cardiomyopathies: A position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur. Heart J. 2007;29:270–276. doi: 10.1093/eurheartj/ehm342. - DOI - PubMed
    1. Arbustini E., Narula N., Tavazzi L., Serio A., Grasso M., Favalli V., Bellazzi R., Tajik J.A., Bonow R.O., Fuster V., et al. The MOGE(S) Classification of Cardiomyopathy for Clinicians. J. Am. Coll. Cardiol. 2014;64:304–318. doi: 10.1016/j.jacc.2014.05.027. - DOI - PubMed
    1. Cipriani A., De Michieli L., Porcari A., Licchelli L., Sinigiani G., Tini G., Zampieri M., Sessarego E., Argirò A., Fumagalli C., et al. Low QRS Voltages in Cardiac Amyloidosis. JACC CardioOncol. 2022;4:458–470. doi: 10.1016/j.jaccao.2022.08.007. - DOI - PMC - PubMed
    1. Licordari R., Minutoli F., Cappelli F., Micari A., Colarusso L., Di Paola F.A.F., Campisi M., Recupero A., Mazzeo A., Di Bella G. Mid-basal left ventricular longitudinal dysfunction as a prognostic marker in mutated transthyretin-related cardiac amyloidosis. Vessel. Plus. 2022;6:12. doi: 10.20517/2574-1209.2021.86. - DOI
    1. Ciarambino T., Menna G., Sansone G., Giordano M. Cardiomyopathies: An Overview. Int. J. Mol. Sci. 2021;22:7722. doi: 10.3390/ijms22147722. - DOI - PMC - PubMed

LinkOut - more resources