Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy

Christiane Bezerra Rocha Liberato; Natália Bitar da Cunha Olegario; Virginia Oliveira Fernandes; Ana Paula Dias Rangel Montenegro; Grayce Ellen da Cruz Paiva Lima; Lívia Aline de Araújo Batista; Lívia Vasconcelos Martins; Jaquellyne Gurgel Penaforte-Saboia; Ivan Lucas Rocha Liberato; Larissa Ferreira Lopes; Catarina Brasil d'Alva; Frederico Luís Braz Furtado; Ricardo Luiz De Medeiros Lima; Lucia Helena Coelho Nóbrega; Josivan Gomes Lima; Renan Magalhães Montenegro Junior; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO)

doi:10.2147/DMSO.S233667

Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy

Diabetes Metab Syndr Obes. 2020 Jan 13:13:107-115. doi: 10.2147/DMSO.S233667. eCollection 2020.

Authors

Christiane Bezerra Rocha Liberato^{1

2}, Natália Bitar da Cunha Olegario^{1

2}, Virginia Oliveira Fernandes^{1

2

3}, Ana Paula Dias Rangel Montenegro², Grayce Ellen da Cruz Paiva Lima^{1

2}, Lívia Aline de Araújo Batista^{1

2}, Lívia Vasconcelos Martins^{1

2}, Jaquellyne Gurgel Penaforte-Saboia^{1

2}, Ivan Lucas Rocha Liberato², Larissa Ferreira Lopes², Catarina Brasil d'Alva^{1

2}, Frederico Luís Braz Furtado^{1

2}, Ricardo Luiz De Medeiros Lima⁴, Lucia Helena Coelho Nóbrega⁴, Josivan Gomes Lima⁴, Renan Magalhães Montenegro Junior^{1

2

3}; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO)

Affiliations

¹ Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
² Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará, Fortaleza, Brazil.
³ Department of Community Health, Federal University of Ceará, Fortaleza, Brazil.
⁴ Department of Clinical Medicine, Onofre Lopes University Hospital, Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil.

Abstract

Purpose: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic lipid storage, metabolic disorders and early cardiovascular disease. Two-dimensional speckle-tracking (2D-STE) allows the detection of early abnormalities in myocardial function. We aimed to evaluate myocardial deformation in a large sample of CGL patients using 2D-STE.

Patients and methods: A cross-sectional study of 22 patients with CGL and 22 healthy subjects, matched for sex and age, was conducted from 2013 to 2018. All participants had undergone standard conventional echocardiography (ECHO) and 2D-STE. Determination of blood glucose, lipids, insulin, and leptin were performed in all CGL patients.

Results: In the CGL group the mean age was 14.6±10.7 years where 68.2% (n=15) were younger than 18 years old. All the patients had hypoleptinemia, 95.4% (21/22) low HDL-c, 86.4% (19/22) hypertriglyceridemia, 68.2% (15/22) diabetes, 50% (11/22) hepatic steatosis, 41% (9/22) insulin resistance, 41% (9/22) hypercholesterolemia, and 18.2% (4/22) hypertension. ECHO showed that 36.6% (8/22) of CGL patients presented diastolic dysfunction, 31.8% (7/22) left ventricular hypertrophy (LVH), 27.3% (6/22) increased left atrial volume index (LAVI), and 18.2% (4/22) increased left ventricular systolic diameter (LVDS) but normal ejection fraction (EF), whether using 2D-STE, 68.2% (15/22) of CGL patients showed abnormal global longitudinal strain (GLS) (p<0.01), and in almost LV segments. Positive association between abnormal GLS and A1c (r=0.57, p=0.005), glucose (r=0.5, p=0.018) and basal insulin (r= 0.69, p= 0.024), and negative association with leptin (r = -0.51, p = 0.005) were found in these patients.

Conclusion: The 2D-STE revealed precocious left ventricular systolic dysfunction in a young CGL population with normal systolic function by ECHO. Early exposure to common metabolic abnormalities as insulin resistance, hyperglycemia, and hypoleptinemia must be involved in myocardial damage in these patients.

Keywords: Berardinelli-Seip congenital lipodystrophy; cardiac function; early detection; global longitudinal strain.