Carlo Simon, Rodríguez-Fernández Laura F, Benítez Ríos Fabiola A, Arciniegas-Medina Norma J, Martínez-González Hector
Biochemistry/Pediatrics/Psychiatry, Ponce Health Sciences University, Ponce, PRI.
Biochemistry, Ponce Health Sciences University, Ponce, PRI.
Cureus. 2022 Mar 21;14(3):e23349. doi: 10.7759/cureus.23349. eCollection 2022 Mar.
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 gene, c.399dup (p.Gly134ArgfsTer30), and a heterozygous c.7552G>A (p.Val2518Ile) VUS in the desmoplakin () gene. This autobiographical case report hopes to shed light on the importance of genetic screening in the search for the etiology of clinical symptoms.
心肌病，也被称为具有心血管病因的病症，可进一步细分为多个类别，包括遗传性的。肌节蛋白基因突变与心肌病表现之间已建立了紧密关联。本病例报告描述了一例迟发性肥厚型心肌病的临床诊断，该病例由大约两年前开始出现的胸痛和心悸症状引发，在此期间这些症状大多未被注意到。作为一名遗传学家，我在确诊后决定进行基因检测。这些检测在基因中发现了一个意义不明的杂合变异（VUS），即c.399dup（p.Gly134ArgfsTer30），以及在桥粒斑蛋白（）基因中发现了一个杂合的c.7552G>A（p.Val2518Ile）VUS。这份自述性病例报告希望能阐明基因筛查在寻找临床症状病因方面的重要性。
