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Heart Failure - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 19 June 2022

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Pompe disease

" Researchers have described three types of Pompe disease, which differ in intensity and the age at which they show up. Affected babies may also fall short to gain weight and grow at the expected rate and have breathing problems. This form of Pompe disease leads to death from heart failure in the first year of life if untreated. The non-classic type of infantile-onset Pompe disease usually appears by age 1. The heart might be extraordinarily large, but affected people usually do not experience heart failure. The muscle weakness in this disorder results in severe breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early youth. The late-onset type of Pompe disease might not come to be noticeable up until later on in the adult years, teenage years, or childhood years. Most individuals with late-onset Pompe disease experience progressive muscle weak point, specifically in the legs and the trunk, including the muscles that manage breathing. ".

Source link: https://medlineplus.gov/genetics/condition/pompe-disease


Barth syndrome

" Barth syndrome happens virtually solely in men. In males with Barth syndrome, dilated cardiomyopathy is commonly present at birth or develops within the first months of life. Individuals with Barth syndrome may have flexible fibers instead of muscle fibers in some areas of the heart muscle, which adds to the cardiomyopathy. In people with Barth disorder, the heart problems can lead to heart failure. In unusual cases, the cardiomyopathy improves over time and affected individuals ultimately have no symptoms of heart problem. Most males with Barth syndrome have neutropenia. The levels of leukocyte can be regularly low, can differ from normal to low, or can cycle between routine episodes of low and normal. Some boys with this condition experience a growth eruption in the age of puberty and are of typical elevation as adults, yet many men with Barth syndrome continue to have short stature in the adult years. Men with Barth syndrome frequently have distinct facial features consisting of prominent cheeks. Males with Barth syndrome have increased degrees of a substance called 3-methylglutaconic acid in their blood and urine. Even though most features of Barth disorder are present at birth or in early stage, affected people might not experience health issue up until later in life. The age at which individuals with Barth syndrome display screen symptoms or are detected differs greatly. Males with Barth syndrome have a reduced life span. ".

Source link: https://medlineplus.gov/genetics/condition/barth-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions