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Review
. 2024 Mar 27;60(4):543.
doi: 10.3390/medicina60040543.

Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review

Oana Raluca Voinescu  1 , Adina Ionac  1   2   3 , Raluca Sosdean  1   2   3 , Ioana Ionac  1 , Luca Silvia Ana  1   3 , Nilima Rajpal Kundnani  1   2 , Stelian Morariu  4 , Maria Puiu  5   6 , Adela Chirita-Emandi  5   6
Affiliations
Review

Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review

Oana Raluca Voinescu et al. Medicina (Kaunas). .

Abstract

Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.

Keywords: family screening; genetic counseling; genetic testing; heritable cardiomyopathies.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Two-dimensional echocardiography, apical four-chamber view showing important LV hypertrophy (LVH) and dilation of LA. Versus normal heart to the right side of the image.
Figure 2
Figure 2
Continuous Wave Doppler in LV outflow tract measures a maximum gradient pressure of 63 mmHg.
Figure 3
Figure 3
Two-dimensional echocardiography, apical four-chamber view showing biventricular dilation with spherical geometry and bilateral atrial enlargement, versus normal heart to the right side of the image.
Figure 4
Figure 4
Speckle tracking emphasizes a left ventricle with reduced Global Longitudinal Strain (GLS) of −0%.
Figure 5
Figure 5
Two-dimensional echocardiography, parasternal long axis view showing an LV with concentric hypertrophy (LVH) and LA enlargement.
Figure 6
Figure 6
Pulsed Wave Doppler (PWD) at the mitral valve (MV) level, with E/A ratio of 2.4—suggestive for restrictive diastolic dysfunction.
Figure 7
Figure 7
Two-dimensional echocardiography, apical four-chamber view showing right ventricular (RV) dilation with multiple macro-aneurysms and reduced systolic function versus normal heart to the right side of the image.
Figure 8
Figure 8
Speckle tracking analysis revealed reduced RV free wall longitudinal strain of −20% in a patient diagnosed with ACM predominantly affecting the RV.
See this image and copyright information in PMC

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Grants and funding

We would like to acknowledge “Victor Babes” University of Medicine and Pharmacy Timisoara, Romania for their support in covering the costs of publication for this research paper.
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