Publication Date:
2020
abstract:
Congenital diseases are a large and heterogeneous group of developmental alterations that
occur during pregnancy. Congenital diseases have very different causes that can be classified as
follows: genetic defects; exposure to infectious agents, chemicals, and drugs with teratogenic
action; and a combination of genetic and environmental factors. Congenital disease causes
structural, functional, or metabolic abnormalities. Congenital disorders are associated with a
higher risk of sleep-related respiratory disorders (SDB) that occur from the first months of life.
The various pathophysiological factors involve a variable presence of breathing disturbed in
sleep with obstructive and central manifestations. The children with congenital disease, at high
risk for SDB, may not present with SDB symptoms and deserve special attention as well as a
low threshold for a sleep study referral. Untreated SDB can lead to a worsening of
neurocognitive or behavioral manifestations, as well as metabolic, cardiovascular
manifestations, which make the treatment of patients with congenital disorders very
demanding. Identifying, diagnosing, and treating SDB can significantly improve the patient's
quality of life, prevent the development of sequelae or comorbidities, and prolong survival.
Iris type:
02.01 Contributo in volume (Capitolo o Saggio)
Keywords:
congenital disease; sleep disordered breathing; neurogenic disorder; dysmorphisms
List of contributors:
Insalaco, Giuseppe; LO BUE, Anna; Salvaggio, Adriana
Book title:
Noninvasive Ventilation in Sleep Medicine and Pulmonary Critical Care