Tag Archives: cardiomyopathy

Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

DOI: 10.2478/amma-2013-0065

Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited.
Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy.
Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%). Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy.
Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background.

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Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

DOI: 10.1515/amma-2015-0027

Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.
Methods: Thirty-nine patients diagnosed with hypertrophic cardiomyopathy in the IIIrd Pediatric Cardiology Department from Tîrgu Mureș were included in this study. Patients were divided into two groups: group 1 – patients diagnosed during infancy, group 2 – patients diagnosed after 1 year of age. Data regarding familial and personal history, and echocardiographic findings were compared between these two groups.
Results: Group 1 included 17 patients and group 2 – 22 patients. Positive familial history was found in both groups (group 1 – 6 cases, group 2 – 3 cases), all of them in obstructive forms. Syncope was found in four cases, all of them in group 1 (p=0.02; odds ratio 15; 95% CI, 0.7473 to 301.1). While in group 1, asymmetric septal hypertrophy was predominant (64.7%), in group 2 – concentric left ventricular hypertrophy predominated (54.5%). Obstructive hypertrophic cardiomyopathy was found in 14 patients in group 1 (82.4%)compared to 13 patients in group 2 (59.1%). Diastolic function was impaired more predominantly in group 1 (p=0.0274; odds ratio 11.67; 95% CI, 1.526 to 89.17).
Conclusions: hypertrophic cardiomyopathy has an extensive clinical variability with regard to age of onset, severity and progression of disease.

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