Ann Pediatr Res | Volume 1, Issue 1 | Case Report | Open Access

Cardiac Magnetic Resonance Imaging Findings for Dilated Cardiomyopathy Caused by Pathogenic Disruption of Desmoplakin Gene Influences Decision for Heart Transplantation

Abhineet M Sharma¹, Steve Zangwill², James F Southern³, Kristen Holland⁴, Gabrielle Geddes⁵ and Margaret M Samyn^5*

¹Medical College of Wisconsin, USA
²Phoenix Children’s Hospital Heart Center, USA
³Department of Pathology, Medical College of Wisconsin, USA
⁴Department of Dermatology, Medical College of Wisconsin, USA
⁵Department of Pediatrics, Medical College of Wisconsin, USA

^*Correspondance to: Margaret M Samyn 

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Abstract

Background: Over the past decade, Cardiac Magnetic Resonance imaging (CMR) has come to the fore in evaluation of adults with dilated cardiomyopathy and is increasingly used for pediatric patients. This case illustrates how CMR findings contributed to the decision for heart transplantation in a child with a unique type of dilated cardiomyopathy. Case
Presentation: A 6-year-old girl with a long-standing history of diffuse erythroderma presented with vomiting and lethargy. Cardiomegaly on chest x-ray led to Echocardiogram, which showed severe dilated cardiomyopathy. Diffuse transmural fibrosis was noted on CMR. The patient was nonresponsive to Intravenous Gamma Globulin (IVIG) (for presumed fulminant myocarditis). This patient underwent heart transplant with good result. Explant histology confirmed diffuse myocardial fibrosis. Whole exome sequencing revealed a pathogenic variant in the Desmoplakin (DSP) gene which codes for Desmoplakin, a protein involved in intercellular junctions; pathogenic disruption of this gene has been implicated as a cause of diffusely red, scaly skin (erythrokeratodermia) and severe dilated cardiomyopathy.
Conclusion: This case illustrates the importance of CMR for optimal management of dilated cardiomyopathy, especially when there is no clear etiology. The extent of myocardial Late Gadolinium Enhancement (LGE), due to cellular necrosis and subsequent fibrosis, may contribute to clinical decision making.

Keywords:

Pediatric Cardiac Magnetic Resonance (CMR); Dilated cardiomyopathy; Late Gadolinium Enhancement (LGE); Cardiac transplantation

Citation:

Sharma AM, Zangwill S, Southern JF, Holland K, Geddes G, Samyn MM. Cardiac Magnetic Resonance Imaging Findings for Dilated Cardiomyopathy Caused by Pathogenic Disruption of Desmoplakin Gene Influences Decision for Heart Transplantation. Ann Pediatr Res. 2017; 1(1): 1002.