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Updated: May 30, 2026
Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia
Brian T Palmisano1, Jeffrey N Rottman, Quinn S Wells
1Division of Cardiovascular Medicine, Center for Inherited Heart Disease, Vanderbilt Heart and Vascular Institute, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Insights
Inherited cardiac diseases like arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) can cause sudden cardiac death in young athletes. Genetic evaluation is crucial for accurate diagnosis and family screening.
Area of Science:
- Cardiology
- Genetics
- Sports Medicine
Background:
- Sudden cardiac death (SCD) in young athletes is often linked to undiagnosed inherited cardiac conditions.
- Hypertrophic cardiomyopathy (HCM) is a common presumptive diagnosis in such cases.
Observation:
- A young male athlete experienced near-SCD, with initial imaging suggesting HCM.
- Further clinical and genetic assessment of the athlete and his father revealed arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD).
Findings:
- Both individuals were heterozygous for pathogenic variants in PKP2 and DSC2 genes, encoding desmosomal proteins.
- Specific variants identified include a PKP2 splicing variant (c2489 + 1A > G) and a novel DSC2 variant (p.I109M).
- Imaging and electrophysiologic studies confirmed ARVD in the father.
Implications:
- This case underscores the necessity of comprehensive clinical evaluation and genetic testing for families affected by unexplained cardiomyopathies or SCD.
- Accurate diagnosis of ARVD is critical for risk stratification and management in young athletes.
- Genetic screening can identify at-risk relatives, enabling preventative strategies.
Abstract:
Most sudden cardiac deaths in young athletes are caused by previously undetected inherited cardiac diseases. Here, we report a case of a young male athlete in whom a presumptive diagnosis of hypertrophic cardiomyopathy (HCM) was made following a near sudden cardiac death. Although his imaging studies initially suggested HCM, a detailed clinical and genetic evaluation of the patient and his asymptomatic father led to the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in both. DNA sequencing revealed that each individual was heterozygous for two rare variants in the PKP2 and DSC2 genes, both of which were previously shown to be associated with ARVD and to encode desmosomal proteins, i.e. the previously reported splicing variant c2489 + 1A > G in the PKP2 gene and the novel p.I109M variant in the DSC2 gene. Imaging and electrophysiologic studies further supported a diagnosis of ARVD in the father. This case highlights the importance of detailed clinical evaluation and genetic testing of family members when dealing with sudden cardiac death or unexplained cardiomyopathies in the young.
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