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Electrocardiography on admission showing baseline rhythm was sinus rhythm, T wave inversion in leads V1–V3, with frequent and polymorphic premature ventricular complexes
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Background
Arrhythmogenic right ventricular cardiomyopathy (ARVC), or more recently known as arrhythmogenic cardiomyopathy (ACM), is an heritable disorder of the myocardium characterized by progressive fibrofatty replacement the heart muscle and risk of ventricular arrhythmias and sudden cardiac death (SCD). We report a case study to demonstrate th...
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We present the case of a previously healthy 14-year-old boy who experienced two episodes of lightheadedness while sitting under the sun. The patient did not experience syncope and denied experiencing any other symptoms. Moreover, he exhibited great functional capacity. An electrocardiogram showed T-wave inversions in leads V1 to V4. Subsequent echo...
Citations
... Genotype-phenotype studies have shown that specific mutations are associated with varying degrees of ventricular dysfunction and arrhythmic risk [23]. PKP2 mutations are often associated with more severe arrhythmic events and a higher risk of sudden cardiac death, necessitating aggressive arrhythmia management and consideration for ICD implantation [24]. DSP 4 mutations may present with both right and left ventricular involvement, complicating the clinical picture and requiring comprehensive management strategies [25,26]. ...
... RCM is the least common form of inherited cardiomyopathy, characterized by diastolic dysfunction and restrictive filling of the ventricles (24). It can be caused by mutations in sarcomeric and nonsarcomeric genes, including TNNI3, MYH7, FLNC, and DES [15,29]. ...
Inherited cardiomyopathies are a diverse group of heart muscle diseases caused by genetic mutations that result in structural and functional abnormalities of the myocardium. Understanding genotype-phenotype correlations in these conditions is vital for personalized cardiac medicine, enabling targeted therapeutic strategies and predictive diagnostics. This review explores the major types of inherited cardiomyopathies—hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM)—and provides detailed insights into how different genetic mutations manifest as clinical features. The integration of multi-omics approaches and advanced disease modeling techniques has enhanced our ability to dissect these correlations. The review also discusses the implications of these findings for personalized medicine, including tailored therapeutic strategies, predictive diagnostics, and future research directions.
Inherited cardiomyopathies are a diverse group of heart muscle diseases caused by genetic mutations that result in structural and functional abnormalities of the myocardium. Understanding genotype–phenotype correlations in these conditions is vital for personalized cardiac medicine, enabling targeted therapeutic strategies and predictive diagnostics. This review explores the major types of inherited cardiomyopathies–hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, and restrictive cardiomyopathy–and provides detailed insights into how different genetic mutations manifest as clinical features. The integration of multi-omics approaches and advanced disease modeling techniques has enhanced our ability to dissect these correlations. The review also discusses the implications of these findings for personalized medicine, including tailored therapeutic strategies, predictive diagnostics, and future research directions.
JOURNAL/sjfhs/04.03/01772839-202501000-00004/figure1/v/2025-04-19T121403Z/r/image-tiff
