Abstract:
Introduction: Hypertrophic cardiomyopathy (HCM) accounts for 42% of childhood cardiomyopathy and has an incidence of 0.47/100,000 children (Colan SD, 2010). Clinical presentation
is polymorphic, including sudden death may be the first symptom of HCM at any age. The risk of
sudden cardiac death (SCD) is >1% annually in unselected HCM patients but increases to 5% or
more if risk factors are presents. According to a recent report on survival of patients with HCM, a
family history of cardiac sudden death was a risk factor for SCD in adult series, but it was much
higher in patients <18 years of age (Dimitrow P., 2010). Several risk factors associated with an
elevated risk of SCD in HCM adult patients have been identified, but risk factors in the pediatric
population are not yet finalized.
Purpose and Objectives: The detection of unfavorable risk factors in the primary diagnosis
of hypertrophic cardiomyopathy in children.
Materials and Methods: A retrospective study was performed on 7 children diagnosed primary
with HCM, interned in departement of Pediatric cardiology of Child and Mother Institute (2009-2010).
All subjects underwent detailed assessment that included clinical history (symptoms, when they started,
date of diagnosis of the disease, family history data on evolution, past and present therapy, etc.), clinical
examination, 12-lead electrocardiogram (ECG), ECG Holter monitoring and echocardiographic study
(EcoCG, M-mode, two dimensional and Doppler). Each clinical case was analyzed with reference to
detection the presence of unfavorable risk factors at primary diagnosis.
Results: The primary diagnosis of HCM was established at the age of the infant in 42,8% of
cases, of whom 2 patients had a positive family history. Most children (71,4% of cases) were
suspected to specific symptoms: chest pain, dyspnea and intolerance at effort. Standard ECG
determined left ventricular hypertrophy (LVH) in 100% of cases. The EcoCG measurements,
allowed the establishment HCM phenotype: 4 (57%) patients having the symmetric form; 3 patients
- asymmetric form (with the involvement of the interventricular septum (IVS), 3 patients had the
thickness report IVS / LV posterior wall thickness > 1.3. Concomitantly standard EcoCG in rest
allowed confirmation of the LV outlet tract obstruction (LVOT) to 3 patients, and 1 patient was
appreciated the LVOT phenomenon by performing the effort EcoCG. In 5 patients (71,4%) was
determined the significant increase LV mass myocardium, in 3 children were detected the increase
of the left atrial cavity and 1 child - right ventricular involvement.
Conclusion: Primary diagnosis of HCM was suspected by cardiac symptoms; only 30% of
children were found preclinical and positive family history. Early emergence of symptoms,
aggravated family history and listed EcoCG criteria: significant increase in LV mass, the LV outlet
tract obstruction and right heart involvement, may be considered unfavorable risk factors in the
evaluation of children with HCM, including for the SCD syndrome.
