Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy

Ponte, Carlos Roger Sales da; Fernandes, Virgínia Oliveira; Gurgel, Maria Helane Costa; Vasconcelos, Izabella Tamira Galdino Farias; Karbage, Lia Beatriz de Azevedo Souza; Liberato, Christiane Bezerra Rocha; Negrato, Carlos Antônio; Gomes, Marı́lia B.; Montenegro, Ana Paula Dias Rangel; Júnior, Renan Magalhães Montenegro

doi:10.1186/s12872-017-0738-4

Cited by 15 publications

(24 citation statements)

References 48 publications

(53 reference statements)

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“…Concerning BSCL, Faria et al [ 5 ] previously showed abnormal autonomic modulation in BSCL patients of our cohort by heart rate variability (HRV) analysis, and this was independent of the presence of metabolic and hemodynamic disturbances. Atypical autonomic modulation was also recently confirmed in BSCL patients from Ceará, a Northeast state located near our patients’ state [ 16 ].…”

Section: Discussionsupporting

confidence: 75%

“…Several studies showed a decrease in static respiratory pressures in patients with metabolic, renal, and cardiovascular complications [ 30 – 33 ], findings that were also described in BSCL patients [ 3 – 5 , 16 , 34 ]. All BSCL subjects from our research had diabetes, as shown in Table 1 , which is in accordance with the previously published data from our population [ 3 , 14 ].…”

Section: Discussionmentioning

confidence: 86%

“…Additionally, RMW was also found in type 2 diabetic patients [ 13 ]. Considering the metabolic, cardiovascular, and cognitive complications related to BSCL subjects worldwide [ 5 , 14 – 16 ], the abnormal cardiovascular autonomic modulation shown by BSCL subjects from RN [ 4 , 5 ], as well as the lack of studies investigating respiratory maximal pressures in these subjects, the aim of this research was to evaluate the respiratory and peripheric muscle strength in BSCL subjects compared to healthy subjects.…”

Section: Introductionmentioning

confidence: 99%

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Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

et al. 2018

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BackgroundBerardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Although cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. This study aimed to evaluate RMS in BSCL subjects compared with healthy subjects.MethodsEleven individuals with BSCL and 11 healthy subjects matched for age and gender were included in this study. The Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP), and Peripheral Muscle Strength (PMS) were measured for three consecutive years. BSCL subjects were compared to healthy individuals for MIP, MEP, and PMS. Correlations between PMS and MIP were also analyzed. The genetic diagnosis was performed, and sociodemographic and anthropometric data were also collected.ResultsBSCL subjects showed significantly lower values for MIP and MEP (p < 0.0001 and p = 0.0002, respectively) in comparison to healthy subjects, but no changes in handgrip strength (p = 0.15). Additionally, we did not observe changes in MIP, MEP, and PMS two years after the first analysis, showing maintenance of respiratory dysfunction in BSCL subjects (p = 0.05; p = 0.45; p = 0.99). PMS and MIP were not correlated in these subjects (r = 0.56; p = 0.18).ConclusionBSCL subjects showed lower respiratory muscle strength when compared with healthy subjects; however, PMS was not altered. These findings were maintained at similar levels during the two years of evaluation. Our data reveal the first association of BSCL with the development of respiratory muscle weakness.Electronic supplementary materialThe online version of this article (10.1186/s12931-018-0879-8) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

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Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

et al. 2018

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“…A previous article on cardiovascular autonomic neuropathy in our sample of CGL patients mentioned this mutation in a supplementary table. However, it did not describe the clinical characteristics of these two patients [14].…”

Section: Discussionmentioning

confidence: 96%

“…Patient 1 had severe and early micro-and macrovascular complications detected approximately 5 years after the diabetes diagnosis, as well as end-stage renal disease, autonomic cardiovascular neuropathy and acute myocardial infarction at age 29. Ponte et al [14] observed early commitment of cardiovascular autonomic modulation in 10/20 young CGL patients, detected through abnormalities in cardiovascular autonomic neuropathy tests.…”

Section: Discussionmentioning

confidence: 99%

Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Júnior

Lima

Fernandes

et al. 2020

Diabetol Metab Syndr

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Background: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26). Methods: Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function. Results: Patient 1: a 30-year-old woman with lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to endstage renal disease. Patient 2: a 12-year-old girl with lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2. Conclusion: We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.

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Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy

Medeiros

Bezerra

Cruz

et al. 2022

BMC Cardiovasc Disord

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Background Congenital Generalized Lipodystrophy (CGL) is an ultra-rare disease characterized by metabolic disorders. However, the evaluation of functional exercise capacity, cardiovascular (CV) response to exercise, and peripheral arterial disease (PAD) in CGL is scarce. Here we evaluated the performance and CV response to exercise and their association with PAD in CGL compared to healthy individuals. Methods Twelve CGL and 12 healthy subjects matched for age and gender were included. Functional exercise capacity, CV response, and PAD were measured using the six-minute walk test (6MWT) and ankle-brachial index (ABI), respectively. Results At baseline, CGL subjects showed reduced predicted walked distance (6MWD) (p = 0.009) and increased heart rate (HR), systolic (SBP), and diastolic (DBP) pressures compared to healthy subjects (p < 0.05). Most CGL subjects presented normal ABI values (1.0 ≤ ABI ≤ 1.4). Only 25% (n = 3) had ABI ≤ 0.9. CGL subjects did not present changes in ABI and blood pressure 12 months after metreleptin (MLP) replacement, but they walked a greater 6MWD than baseline (p = 0.04). Further, 6MWD and right ABI measurements were positively correlated in CGL subjects (p = 0.03). Right ABI negatively correlated with glucose, triglycerides, and VLDL-c (p < 0.05). Conclusions We observed that CGL subjects had lower functional exercise capacity and higher cardiovascular effort for similar performance of 6MWT, suggesting that strategies for decreasing exercise effort in this population should be essential. Furthermore, better physical performance was associated with high ABI in CGL. Additional studies are needed to clarify leptin's role in preserving functional exercise capacity in CGL.

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Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy

Cited by 15 publications

References 48 publications

Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy

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