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Erschienen in: The International Journal of Cardiovascular Imaging 9/2016

20.06.2016 | Original Paper

Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography

verfasst von: Jérôme Peyrou, Patricia Réant, Amélie Reynaud, Claire Cornolle, Marina Dijos, Caroline Rooryck-Thambo, Mathieu Landelle, Michel Montaudon, François Laurent, Raymond Roudaut, Stéphane Lafitte

Erschienen in: The International Journal of Cardiovascular Imaging | Ausgabe 9/2016

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Abstract

To evaluate if morphological or functional abnormalities could be detected with echocardiography in hypertrophic myocardiopathy (HCM) mutation carriers without left ventricle (LV) hypertrophy has developed. HCM is caused by extensive genes mutations found in two-third of patients. Because screening for carriership of a large population is unreasonable, identification of asymptomatic subjects is confined to the use of imaging such as echocardiography, by which subtle abnormalities can be detected. Comprehensive echocardiographic studies including morphological and functional assessment were performed. Asymptomatic HCM mutation carriers without hypertrophy (Phe−/Gen+, n = 14), and HCM patients (Phe+/Gen+, n = 17) were compared with healthy control subjects (n = 32) in a prospective design. Compared to controls, septum thickness was significantly higher with an elongated mitral valve in both groups. Thickened LV muscular band (LVMB) are more likely found in Phe−/Gen+ and Phe+/Gen+. The thickness of LVMB was higher in the Phe−/Gen+ versus controls. A LVMB thickness ≥3.6 mm was associated with HCM mutation carriership (sensitivity: 76.9 %, specificity: 94.1 %). The regional strain was significantly impaired in the basal segments of the septum in the Phe−/Gen+. The GLS was significantly impaired in the Phe+/Gen+ (−16.4 % ± 2.9 vs. −21.4 % ± 2.3 in control subjects, p = 0.01). Mitral A wave velocity, septal E/e′, averaged E/e′ were increased in both groups. E/A ratio was significantly lower in Phe+/Gen+. Morphological and functional abnormalities in hypertrophy-free HCM mutation carriers could be detected with echocardiography. Anomalous thickened LVMB could be representing a morphological marker for the HCM disease without overt hypertrophy has developed or in patients with an ambiguous diagnosis.
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Metadaten
Titel
Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography
verfasst von
Jérôme Peyrou
Patricia Réant
Amélie Reynaud
Claire Cornolle
Marina Dijos
Caroline Rooryck-Thambo
Mathieu Landelle
Michel Montaudon
François Laurent
Raymond Roudaut
Stéphane Lafitte
Publikationsdatum
20.06.2016
Verlag
Springer Netherlands
Erschienen in
The International Journal of Cardiovascular Imaging / Ausgabe 9/2016
Print ISSN: 1569-5794
Elektronische ISSN: 1875-8312
DOI
https://doi.org/10.1007/s10554-016-0929-6

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