Cardiac Involvement in Gaucher`s Disease

Malka Yahalom 1 Ali Sakhnini 2 Ehud Rozner 1 Yoav Turgeman 1,3
1Heart Institute, HaEmek Medical Center, Afula
2Internal Medicine D, HaEmek Medical Center, Afula
3Faculty of Medicine, Technion, Haifa

Introduction

Gaucher`s Disease (GD) is characterized by an accumulation of glucocerebrosidase in various organs (the Central Nervous System (CNS); the liver, spleen, bone-marrow and skeleton). It is caused by an autosomal recessive mutation (3 types) and is more prevalent in Ashkenazi Jews. Cardiac complications are extremely rare, and mostly restricted to constrictive pericarditis, as well as heart valves and the great vessels.

We are reporting about a 64-year-old woman with Gaucher`s Disease, admitted to our department with the clinical picture of an acute Myocardial Infraction.

 

Objectives

To raise awareness to the heart and great vessels involvement in Gaucher`s Disease.

 

Methods and Materials

A 64-year-old woman known as having Gaucher`s Disease (followed in another hospital) ,hyperlipidemia, and a smoker, was admitted to our department this year with chest pain and with the clinical evidence of non -ST elevation inferior wall myocardial infraction. The patient passed a percutaneous transluminal coronary angioplasty with stenting to PDA (Posterior Descending Artery). On a chest x-ray there was an evidence of calcification of the Ascending Aorta;  and an Echocardiogram revealed heavy calcification of the Aortic and Mitral Valve, and of the Mitral Annulus.

 

Conclusions

We recommend to follow patients known to suffer from Gaucher`s Disease and thus treat cardiac complications, in time.









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