Key result
Newborn with Zellweger syndrome presents with HCM and dies at 29 days from respiratory failure.
Case Report (n=1)
No
This case report highlights the rare co-occurrence of Zellweger syndrome and hypertrophic cardiomyopathy in a newborn.
Neonates with Zellweger syndrome may develop hypertrophic cardiomyopathy; this case leaves open questions on prognosis and screening.
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 and died on day 29 of life due to worsening respiratory status.
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