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Barth Syndrome
What are the symptoms?
The features of Barth syndrome vary between different families and even within the same family, but the majority of patients develop cardiomyopathy within the first year. Typical early features are laboured breathing and poor feeding due to breathlessness ('heart failure'). Often the heart failure can be controlled by drug treatment but, in a few patients, heart transplantation may need to be considered. A few patients die suddenly, before they are diagnosed, perhaps due to a disturbance of the heart's rhythm. Other patients may die because of overwhelming infections.
Background
| What are the causes? 
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