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CASE REPORT article

Front. Genet.
Sec. Human and Medical Genomics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1415156
This article is part of the Research Topic Precision medicine in cardiovascular disease View all articles

Dilated Cardiomyopathy Caused by Mutation of the PNPLA2 Gene: A Case Report and Literature Review

Provisionally accepted
Shuai Wang Shuai Wang 1Sha Wu Sha Wu 2Daoquan Peng Daoquan Peng 2*
  • 1 Second Xiangya Hospital, Central South University, Changsha, China
  • 2 Department of cardiovascular medicine, Second Xiangya Hospital, Changsha, Anhui Province, China

The final, formatted version of the article will be published soon.

    Deficiency of adipose triglyceride lipase (ATGL) due to mutation in PNPLA2 causes autosomal recessive disease neutral lipid storage disease with myopathy (NLSDM) (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Cardiac involvement was reported in 40-50% of NLSDM patients. Patients with cardiac involvement have adult-onset progressive heart failure, mimicking dilated or hypertrophic cardiomyopathy. The clinical characteristics, genotype-phenotype correlation, and prognosis of cardiomyopathy secondary to PNPLA2 mutation are not understood. We reported two male patients carrying homozygous splicing mutation NM_020376.4 (c.757+1G>T) in PNPLA2, presenting with severe dilated cardiomyopathy and mild skeletal muscle involvement. Through literature review, the ECG and imaging feature as well as prognosis of 49 previously reported cases of cardiomyopathy caused by PNPLA2 mutation were summarized. This study suggests NLSDM should be considered as a cause of cardiomyopathy, especially those with elevated CK levels regardless of whether symptoms such as muscle weakness or atrophy are present.

    Keywords: neutral lipid storage disease, cardiomyopathy, PNPLA2, ATGL, Autosomal recessive disease, case report

    Received: 10 Apr 2024; Accepted: 03 Jul 2024.

    Copyright: © 2024 Wang, Wu and Peng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Daoquan Peng, Department of cardiovascular medicine, Second Xiangya Hospital, Changsha, Anhui Province, China

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