Genetic Cardiomyopathies by Gianfranco Sinagra Luisa Mestroni & Fulvio Camerini

Author:Gianfranco Sinagra, Luisa Mestroni & Fulvio Camerini
Language: eng
Format: epub
Publisher: Springer Milan, Milano

GAA

Glucosidase, alpha, acid

HCM

Glycogenosis tvpe II or Pompe disease

Onset/natural history:

• Classic infantile form: onset in utero or before the age of 3 months. Death within the first year of life (without enzyme replacement therapy)

• Non-classic variant of infantile form: onset within the first year of life, slow progression. Death (for ventilatory failure) in early childhood

• Late-onset forms: childhood, juvenile and adult-onset

Perinatal history and growth: growth delay

Skeletal myopathy: hypotonia, hyporeflexia, generalized muscle weakness, feeding and swallowing difficulties, calf pseudohypertrophy, macroglossia; CK ↑↑.

Respiratory system: relapsing respiratory infections and respiratory failure

Osteoarticular system: hyperlordosis and/or scoliosis

Liver: hepatomegaly

Auditory system: hearing loss

ECG: WPW syndrome

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