Key result
Zellweger syndrome manifests as rare HCM in a newborn dying from respiratory worsening.
Case Report (n=1)
This case report highlights the rare co-occurrence of Zellweger syndrome and hypertrophic cardiomyopathy in a newborn.
Hypertrophic cardiomyopathy may occur in Zellweger syndrome; single case extends phenotype but leaves open prevalence and management.
Peroxisomal biogenesis disorders are a group of genetically and clinically heterogenous disorders which affect very-long chain fatty acid metabolism. Zellweger syndrome (ZS) is a rare, congenital disorder characterized by multisystem involvement including central nervous system, skeletal system, liver, kidney and eyes, due to absence of peroxisomes in the cells. Hypertrophic cardiomyopathy (HCM) is defined as septal or posterior wall thickness that is more than two standard deviations above the mean normal thickness measured by echocardiography. Here we present a newborn with Zellweger syndrome and hypertrophic cardiomyopathy.
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Kale et al. (2016) conducted a case report in Zellweger syndrome and hypertrophic cardiomyopathy (n=1). Zellweger syndrome was evaluated on Clinical presentation and outcome. A newborn female with Zellweger syndrome presented with hypertrophic cardiomyopathy, a rare cardiac manifestation, and died on day 29 of life due to respiratory worsening.
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