Why the study?
The author sought to highlight the importance of genetic screening in evaluating the etiology of clinical symptoms in late-onset hypertrophic cardiomyopathy.
This case report highlights the potential utility of genetic screening in identifying variants of uncertain significance in patients with late-onset hypertrophic cardiomyopathy.
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Late-onset HCM may present subtly with chest pain; case reports leave open need for genetic screening studies.
Cardiomyopathy, also known as a pathology with a cardiovascular cause, can be further differentiated into multiple categories including genetic. Strong correlations between genetic mutations in sarcomeric proteins and presentation of cardiomyopathies have been made. This case report describes the clinical diagnosis of my late-onset hypertrophic cardiomyopathy, which was brought upon by symptoms of chest pain and palpitations that started approximately two years ago and had mostly gone unnoticed during this period. As a geneticist, I decided to undergo genetic test upon diagnosis. These tests found a heterozygous variant of uncertain significance (VUS) in the ALPK3 gene, c.399dup (p.Gly134ArgfsTer30), and a heterozygous c.7552G>A (p.Val2518Ile) VUS in the desmoplakin (DSP) gene. This autobiographical case report hopes to shed light on the importance of genetic screening in the search for the etiology of clinical symptoms.
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Carlo et al. (2022) studied this question.
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