Tomás-Soldevilla B, González-Marín MA, Martínez-del RJ, Beraghi M

Language: Spanish
References: 15
Page: 111-114
PDF size: 864.42 Kb.

ABSTRACT

Introduction: cardiomyopathies are disorders that cause structural or functional alterations in the heart muscle, but they have different etiologies. We present a newborn with cardiomyopathy in whom a genetic cause was identified. Case description: an 18-day-old male was referred for evaluation of an incidentally identified systolic heart murmur. He was asymptomatic. Imaging studies established a diagnosis of non-obstructive, septal-predominant asymmetric hypertrophic cardiomyopathy. After ruling out secondary causes, a genetic study was requested, which identified a homozygous pathogenic variant in the MYBPC3 gene (NM_000256.3:c.1513_1515delAAG + NC_000011.9:g.47364241_47364243delCTT; NP_000247.2:p.Lys505del). This same variant was found in both parents, but without phenotypic affectation. Conclusions: in patients with cardiomyopathy, the differential diagnosis should include genetic causes, since their identification allows guiding the patient's treatment and providing genetic counseling.

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