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Case Report
Noncompaction cardiomyopathy in mother and newborn: Value of genetic testing in conjunction with history and imaging
1 Attending Cardiologist, Department of Medicine, Lincoln Medical Center, Bronx, NY, USA
2 Chief of Cardiology, Department of Medicine, Lincoln Medical Center, Bronx, NY, USA
Address correspondence to:
Kenneth Ong
Lincoln Medical Center, 234 East 149th Street, Bronx, NY 10451,
USA
Message to Corresponding Author
Article ID: 100066Z08MM2020
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Munira MS, Ong K, Dharmarajan L. Noncompaction cardiomyopathy in mother and newborn: Value of genetic testing in conjunction with history and imaging. J Case Rep Images Obstet Gynecol 2020;6: 100066Z08MM2020.ABSTRACT
Introduction: Noncompaction cardiomyopathy (NCCM) is a rare disorder in which affected individuals have variable clinical presentations ranging from being asymptomatic to sudden cardiac arrest. While its typical phenotypic expression often triggers the initial evaluation, the etiology is heterogeneous with genetic, familial, or sporadic traits. Treatment and prognosis depends on factors such as the presence or absence of heart failure, cardiac arrhythmia, thromboembolic events, and type of genetic mutation identified.
Case Report: We present a case of familial NCCM in a young woman, presenting as pre-eclampsia and heart failure during pregnancy. Following an echocardiogram in the mother and baby that suggested NCCM, genetic testing revealed an MYH7 mutation in both mother and newborn. The mother improved after management with guideline directed treatment for heart failure, with subsequent improvement of left ventricular function after one year.
Conclusion: This case illustrates the value of genetic testing in conjunction with focused history and imaging during the peripartum management of the obstetrical patient and her child.
Keywords: Cardiomyopathies, Genetic testing, Non-compaction cardiomyopathy, Peripartum cardiomyopathy
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Author Contributions
Most Sirajum Munira - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Kenneth Ong - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Lekshmi Dharmarajan - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest
Copyright© 2020 Most Sirajum Munira et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
