Is hypertrophic cardiomyopathy a progressive disease?

The disorder, which is characterized by left ventricular hypertrophy, is usually not progressive, but a small subset of patients develop serious complications, such as progressive heart failure, atrial fibrillation, and sudden cardiac death.

What is Pompe’s disease?

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).

How does Pompe disease cause hypertrophic cardiomyopathy?

Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Patients with classic infantile-onset Pompe disease usually present with hypertrophic cardiomyopathy and die before 1 year of age, if not treated with enzyme replacement therapy (ERT).

Is it true that the life span of individuals with Pompe’s disease is 9 years?

They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.

Is Pompe always fatal?

What Is the Life Expectancy for Pompe Disease? The infantile form of Pompe disease (type II glycogen storage disease) is usually fatal, and most patients die within 1 year of birth. Enlarged heart with progressive obstruction to left ventricular outflow is a major cause of death.

Is McArdle’s disease progressive?

The condition usually begins before age 15 and is generally not progressive, although weakness between episodes of exercise sometimes develops.

What is the prognosis of restrictive cardiomyopathy?

Prognosis: If the underlying disease is not treated, the new donor heart may also eventually develop restrictive cardiomyopathy. Success of transplants varies among children and adults.

What is the life expectancy of an infant with Pompe disease?

The most severely affected infants usually present within the first 3 months after birth. They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).

What causes muscle weakness and wasting in Pompe disease?

Acid alpha-glucosidase (GAA) is one of these enzymes and solely responsible for the shortage or dysfunction of the GAA enzyme causes glycogen to accumulate within the lysosomes leading sequentially to cellular malfunction, cellular damage, tissue damage, and ultimately organ dysfunction. In Pompe, that is manifested as muscle weakness and wasting.

How is constrictive pericarditis related to restrictive cardiomyopathy?

In some cases, restrictive cardiomyopathy may be confused with constrictive pericarditis, a condition in which the layers of the pericardium (the sac that surrounds the heart) become thickened, calcified and stiff. Constrictive pericarditis prevents the heart muscle from expanding during filling…