Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations

被引：2

作者：

Borrelli, Felice ^{[1
]}

Lombardi, Raffaella ^{[1
]}

Canciello, Grazia ^{[1
]}

Frisso, Giulia ^{[2
]}

Todde, Gaetano ^{[1
]}

Esposito, Giovanni ^{[1
]}

Losi, Maria-Angela ^{[1
]}

机构：

[1] Univ Federico II Naples, Dept Adv Biomed Sci, Via S Pansini 5, Naples I-801313, Italy

[2] Univ Federico II Naples, Dept Mol Med & Med Biotechnol, Via S Pansini 5, I-801313 Naples, Italy

来源：

JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH | 2024年 / 17卷 / 02期

关键词：

Hypertrophic cardiomyopathy; Sarcomeric HCM; Non-sarcomeric HCM; Mechano-energetic; GENE-MUTATIONS; HEART; DETERMINANTS; PATHOGENESIS; ASSOCIATION; GUIDELINES; CARDIOLOGY; DIAGNOSIS; VARIANTS; GENOMICS;

D O I：

10.1007/s12265-023-10441-2

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypertrophic cardiomyopathy (HCM) is mainly caused by sarcomeric mutations which may affect myocardial mechano-energetic efficiency (MEE). We investigated the effects of sarcomeric mutations on MEE. A non-invasive pressure/volume (P/V) analysis was performed. We included 49 genetically screened HCM patients. MEEi was calculated as the ratio between stroke volume and heart rate normalized by LV mass. Fifty-seven percent (57%) HCM patients carried a sarcomeric mutation. Patients with and without sarcomeric mutations had similar LV ejection fraction, heart rate, LV mass, and LV outflow gradient. Younger age at diagnosis, family history of HCM, and lower MEEi were associated with presence of sarcomeric mutation (p = 0.017; p = 0.001 and p = 0.0001, respectively). Lower MEEi in HCM with sarcomeric mutation is not related to significant differences on filling pressure as shown on P/V analysis. Sarcomeric mutations determine a reduction of the LV pump performance as estimated by MEEi in HCM. Lower MEEi may predict a positive genetic analysis.

引用

页码：458 / 466

页数：9

共 41 条

[1] Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion [J].

Ashrafian, H ;

Redwood, C ;

Blair, E ;

Watkins, H .

TRENDS IN GENETICS, 2003, 19 (05) :263-268

[2] Invasive left ventricle pressure-volume analysis: overview and practical clinical implications [J].

Bastos, Marcelo B. ;

Burkhoff, Daniel ;

Maly, Jiri ;

Daemen, Joost ;

den Uil, Corstiaan A. ;

Ameloot, Koen ;

Lenzen, Mattie ;

Mahfoud, Felix ;

Zijlstra, Felix ;

Schreuder, Jan J. ;

Van Mieghem, Nicolas M. .

EUROPEAN HEART JOURNAL, 2020, 41 (12) :1286-1297

[3] Effects of diltiazem on left ventricular systolic and diastolic function in hypertrophic cardiomyopathy [J].

Betocchi, S ;

Piscione, F ;

Losi, MA ;

Pace, L ;

Boccalatte, M ;

PerroneFilardi, P ;

CappelliBigazzi, M ;

Briguori, C ;

Manganelli, F ;

Ciampi, Q ;

Salvatore, M ;

Chiariello, M .

AMERICAN JOURNAL OF CARDIOLOGY, 1996, 78 (04) :451-457

[4] Assessment of systolic and diastolic ventricular properties via pressure-volume analysis: a guide for clinical, translational, and basic researchers [J].

Burkhoff, D ;

Mirsky, I ;

Suga, H .

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2005, 289 (02) :H501-H512

[5] Prognostic Stratification of Clinically Stable Patients with Heart Failure by Echocardiographic Pressure/Volume Loop Model [J].

Cioffi, Giovanni ;

Battiston, Roberto ;

Mancusi, Costantino ;

Di Lenarda, Andrea ;

Faganello, Giorgio ;

Aurigemma, Gerard P. ;

Tarantini, Luigi ;

Pulignano, Giovanni ;

Cioffi, Viola ;

de Simone, Giovanni .

JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY, 2023, 36 (07) :746-759

[6] Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy [J].

Crilley, JG ;

Boehm, EA ;

Blair, E ;

Rajagopalan, B ;

Blamire, AM ;

Styles, P ;

McKenna, WJ ;

Östman-Smith, I ;

Clarke, K ;

Watkins, H .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 41 (10) :1776-1782

[7] Depressed myocardial energetic efficiency is associated with increased cardiovascular risk in hypertensive left ventricular hypertrophy [J].

de Simone, Giovanni ;

Izzo, Raffaele ;

Losi, Maria Angela ;

Stabile, Eugenio ;

Rozza, Francesco ;

Canciello, Grazia ;

Mancusi, Costantino ;

Trimarco, Valentina ;

De Luca, Nicola ;

Trimarco, Bruno .

JOURNAL OF HYPERTENSION, 2016, 34 (09) :1846-1853

[8] Myocardial mechano-energetic efficiency in hypertensive adults [J].

de Simone, Giovanni ;

Chinali, Marcello ;

Galderisi, Maurizio ;

Benincasa, Margherita ;

Girfoglio, Danlela ;

Botta, Ilaia ;

D'Addeo, Gianpaolo ;

de Divitiis, Oreste .

JOURNAL OF HYPERTENSION, 2009, 27 (03) :650-655

[9] ECHOCARDIOGRAPHIC ASSESSMENT OF LEFT-VENTRICULAR HYPERTROPHY - COMPARISON TO NECROPSY FINDINGS [J].

DEVEREUX, RB ;

ALONSO, DR ;

LUTAS, EM ;

GOTTLIEB, GJ ;

CAMPO, E ;

SACHS, I ;

REICHEK, N .

AMERICAN JOURNAL OF CARDIOLOGY, 1986, 57 (06) :450-458

[10] 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) [J].

Elliott, Perry M. ;

Anastasakis, Aris ;

Borger, Michael A. ;

Borggrefe, Martin ;

Cecchi, Franco ;

Charron, Philippe ;

Hagege, Albert Alain ;

Lafont, Antoine ;

Limongelli, Giuseppe ;

Mahrholdt, Heiko ;

McKenna, William J. ;

Mogensen, Jens ;

Nihoyannopoulos, Petros ;

Nistri, Stefano ;

Pieper, Petronella G. ;

Pieske, Burkert ;

Rapezzi, Claudio ;

Rutten, Frans H. ;

Tillmanns, Christoph ;

Watkins, Hugh .

EUROPEAN HEART JOURNAL, 2014, 35 (39) :2733-+

← 1 2 3 4 5 →