Hypertrophic cardiomyopathy in a newborn with a rare genetic syndrome – diagnostic and therapeutic difficulties

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Hypertrophic cardiomyopathy in a newborn with a rare genetic syndrome – diagnostic and therapeutic difficulties

Journal Title: Postępy Nauk Medycznych - Year 2014, Vol 27, Issue 9

Abstract

Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy with the absence of other cardiac anomaly as arterial hypertension or congenital heart disease. Clinical symptoms usually depend on the age of a child when the disease is recognized. The newborns and infants most often develop heart failure and weak weight gain. Diagnosis and clinical manifestation of the disease in infancy is associated with poor prognosis. Progressive hypertrophy and occurrence of the ventricular and supraventricular arrhythmias are major therapeutic problems. Leopard syndrome is a rare autosomal dominant genetic disorder. The majority of cases is caused by mutation in non-receptor gene PTPN11. It is characterized by a broad spectrum of clinical symptoms and organ malformations. In approximately 85% patients with Leopard syndrome the cardiac pathology occurs, including in about 20% of cases hypertrophic cardiomyopathy. So far in the literature about 200 patients with Leopard syndrome have been reported. We present a case of an 8-month old infant in whom were early clinical manifestation (the first time in the neonatal period) a rare syndrome resulting from mutations of the gene PTPN11, with predominant symptoms deepening cardiovascular dysfunction due to hypertrophic cardiomyopathy.

Authors and Affiliations

Anna Bochyńska, Lidia Ziółkowska

Keywords

EP ID EP54957
DOI -
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