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OI&Heart Study: cardiovascular profile of Portuguese patients with Osteogenesis imperfecta
Session:
CO 26 - Populações especiais
Speaker:
Andreia Sofia Pereira Magalhães
Congress:
CPC 2021
Topic:
K. Cardiovascular Disease In Special Populations
Theme:
30. Cardiovascular Disease in Special Populations
Subtheme:
30.14 Cardiovascular Disease in Special Populations - Other
Session Type:
Comunicações Orais
FP Number:
---
Authors:
Andreia Magalhães; Ceu Barreiros; Monica Rebelo; Patrícia Dias; André Travessa; Afonso Nunes Ferreira; Ana g. Almeida; Susana Gonçalves; Laura Santos; Isabel m. Pinho; Irina Neves; Ana Paixão; Fernando Ribeiro; Fátima Godinho; Fausto j. Pinto
Abstract
<p>Background: Osteogenesis imperfecta (OI) is a rare inherited disorder which involves the connective tissue. Mutations in type 1 procollagen genes (COL1A1, COL1A2) are the most common pathogenesis of OI. Although it´s main clinical features are related to bone tissue and fragility, other extra-skeletal manifestation can be present. Collagen type 1 is an important constituent of different parts of the cardiovascular system, however the prevalence of cardiac disorders in this population is still unknown. <br /> <br /> Purpose: We aimed to identify and evaluate the presence of potential subclinical cardiac disorders in OI, to better understand the risk of heart disorders in this population.<br /> <br /> Methods: Prospective study of 64 patients (pts) with clinical confirmed OI diagnosis that were divided in two groups: G1 - Children (0-18 years) and G2 - Adults (>18 years). Pts were evaluated according to a specific protocol, designed to identify clinical, anatomical and electrical abnormalities: clinical assessment, ECG, transthoracic echocardiogram with speckle-tracking analysis, 24h Holter monitoring and 24h ambulatory blood pressure monitoring. The adult pts repeated this assessment a year later. <br /> <br /> Results: Sixteen children were included (50% male, age range 4 to 17 years). In this group clinically OI was classified as: mild 88%, moderate 6% and severe 6%. Gene mutation in COL1A1 56%, COL1A2 6%, SERPINF1 6% were present. 6% had type I obesity identified as cardiovascular (CV) risk factor and no concomitant cardiac pathologies were identified. <br /> <br /> In the adult group 48 pts were evaluated, 74% female, mean age 42 years. Clinically OI was classified as: mild 58%, moderate 29% and severe 13%. The majority of pts had gene mutation in COL1A1 69%. The most frequent symptom reported was palpitations (26%). CV risk factors were present in 47% of pts, specially obesity (39%) and hypertension (30%). In 43% of ABPM was detected hypertension, and 6% of Holter monitoring showed moderated findings (supraventricular tachycardia and idioventricular rhythm). The echocardiogram identified left atrial enlargement in 28% of pts and aortic dilatation in 22% of pts. Mitral regurgitation was detected in 15 pts, with 2 of them showing moderate regurgitation. A reduced global longitudinal strain was found in 5 pts and 2 had reduced left ventricle ejection fraction. No significant differences were found in the evaluation carried out in the following year. In 5 pts extra visits were performed mainly to introduce antihypertensive therapy and to investigate pts with reduced left ventricle ejection fraction.<br /> <br /> Conclusion: OI pts seem to have CV system involvement, specially aortic and mitral valve abnormalities and these are evident only in the adult population. This study is the first prospective study addressing the global impact of this disease in CV system and intends to assess the evolution of these changes in a longer follow-up.</p>
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