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Current Pediatric Research| Volume: 22
November 28-29, 2018 | Dubai, UAE
15
th
World Congress on
Pediatrics, Clinical Pediatrics and Nutrition
28
th
International Conference on
Nursing Practice
Joint Event
&
Atypical infantile presentation of HCM detected incidentally by POCUS in Pediatric practitioner office-
based setting
Adib Salim
ATS Bergamo, Italy
Background:
Point of care ultrasound (POCUS) modality offers
a means of improving access to diagnosis and appropriate early
treatment to achieve better quality of life.
POCUS is increasingly being performed by pediatric primary
care in office-based practice and has applications throughout
the spectrum of different pathologies, including cardiac
applications (acute illness, pericardiac effusion, ventricular
function and post-operative follow-up).
The skill is relatively easy acquired. However, the lack of
exposure of this focused approach in most pediatric training
programs in Italy remains a major obstacle.
Material andmethods:
Observational case of three months old
infant presented with unexplained LV wall thickness detected
incidentally by cardiac POCUS, which subsequently revealed to
have Pompe disease.
POCUS cardiac examination performed by primary care
pediatric practitioner in ambulatory-based setting practice.
Ventricular dimensions were obtained in the cardiac 4 chamber
view (m-mode & 2 D recording).
Conclusions:
Hypertrophic cardiomyopathy (HCM) is a
genetically heterogeneous disorder with a large number of
genes involved indisease causation (200mutations in10 genes).
Storage disorders and metabolic defects predominate in
childhood HCM, and usually are recessive genetic defects,
therefore, it is very important recognizeparticular echo-features
of each HCM phenotype in order to plan the correct treatment
and to improve patients’ quality of life and survival.
POCUS in HCMsettingmay be used to enhance patient decision
making regarding pursuit of targeted genetic panel testing.
e:
adibsalim1@gmail.comPediatrics and Clinical Pediatrics 2018
& Nursing Practice 2018, Volume 22
DOI: 10.4066/0971-9032-C2-006