A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification

Here, we present a unique case of the combination of two rare hereditary diseases-a familial form of dilated cardiomyopathy (DCM) and arterial calcification (AC)-in a 10-month-old boy. DCM was caused by a novel pathogenic nucleotide variant (NV) <i>c.542G>T</i> in the <i>MYH7</i> gene, and AC was caused by biallelic nucleotide variants <i>c.3421C>T</i> and <i>c.4015C>T</i> in the <i>ABCC6</i> gene. NVs were identified by the next-generation sequencing (NGS) of a broad panel of 404 genes potentially involved in cardiovascular disorders and subsequently validated by Sanger sequencing in the proband and his parents. Cardiologic examinations confirmed the familial nature of cardiomyopathy and the pathogenicity of variant <i>c.542G>T</i> in <i>MYH7</i> gene. This case highlights the clinical utility of NGS in identifying complex co-existing hereditary conditions and emphasizes the need for the comprehensive genetic testing of patients with atypical clinical presentations.

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Publication Details

Journal
International Journal of Molecular Sciences
Published
2025-06-19
DOI
https://doi.org/10.3390/ijms26125900
Citations
1
Primary Topic
Dermatological and Skeletal Disorders
Type
article
Field-Weighted Citation Impact
1.82

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article

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification

Ilya S. Zhanin, Л. А. Гандаева, Valentina G. Kaverina, Daria A. Chudakova et al.
1 citations
International Journal of Molecular Sciences
Dermatological and Skeletal Disorders
1.82
article

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification

Ilya S. Zhanin, Л. А. Гандаева, Valentina G. Kaverina, Daria A. Chudakova, Kirill V. Savostyanov, Olga P. Zharova, Аndrey P. Fisenko, Nataliya A. Sdvigova, Е. Н. Басаргина, Irina V. Silnova, Yulia S. Burykina, Alexander Pushkov, Yulia Davydova
article en
1 citations

Abstract

Here, we present a unique case of the combination of two rare hereditary diseases-a familial form of dilated cardiomyopathy (DCM) and arterial calcification (AC)-in a 10-month-old boy. DCM was caused by a novel pathogenic nucleotide variant (NV) <i>c.542G>T</i> in the <i>MYH7</i> gene, and AC was caused by biallelic nucleotide variants <i>c.3421C>T</i> and <i>c.4015C>T</i> in the <i>ABCC6</i> gene. NVs were identified by the next-generation sequencing (NGS) of a broad panel of 404 genes potentially involved in cardiovascular disorders and subsequently validated by Sanger sequencing in the proband and his parents. Cardiologic examinations confirmed the familial nature of cardiomyopathy and the pathogenicity of variant <i>c.542G>T</i> in <i>MYH7</i> gene. This case highlights the clinical utility of NGS in identifying complex co-existing hereditary conditions and emphasizes the need for the comprehensive genetic testing of patients with atypical clinical presentations.

International Journal of Molecular SciencesVol. 26(12)
Sechenov University (RU), Ministry of Health (MN), Scientific Center of Children's Health (RU)
Ministry of Health of the Russian Federation
Good health and well-being
Openalex Percentile: Top 15%
Dermatological and Skeletal Disorders
1.82
DOIOpen Access PDFOpenAlex
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