Key result
A 29-year-old man with co-occurring Duchenne muscular dystrophy and hypertrophic cardiomyopathy manifested a mixed cardiac phenotype with characteristics of both disorders on imaging.
Case Report (n=1)
This case report describes a rare co-occurrence of Duchenne muscular dystrophy and hypertrophic cardiomyopathy, highlighting a mixed cardiac phenotype on imaging.
Answers are grounded in this paper and cite their sources.
Mixed phenotypes may occur with co-occurring DMD and HCM; single case leaves prevalence and management implications open.
We present the case of a 29-year-old man with mutation-positive Duchenne muscular dystrophy and mutation-positive hypertrophic cardiomyopathy. His cardiac phenotype has characteristics of both disorders; he manifests sub-epicardial left ventricular free wall late gadolinium enhancement that is consistent with Duchenne cardiomyopathy, as well as asymmetric ventricular septal hypertrophy, hyperdynamic left ventricular systolic function, and septal mid-myocardial late gadolinium enhancement, which are characteristic of hypertrophic cardiomyopathy.
No takes yet. Share an insight, caveat, or question.
Tandon et al. (2014) conducted a case report in Duchenne muscular dystrophy and hypertrophic cardiomyopathy (n=1). Co-occurring Duchenne muscular dystrophy and hypertrophic cardiomyopathy was evaluated on Cardiac phenotype characteristics. A 29-year-old man with co-occurring Duchenne muscular dystrophy and hypertrophic cardiomyopathy manifested a mixed cardiac phenotype with characteristics of both disorders on imaging.
Synapse has enriched 10 related papers. Consider them for comparative context: