Alterações Cardiovasculares em Pacientes Portadores de Lipodistrofia Familiar

Romano, Minna Moreira Dias; Chacon, Paula Ananda Inês; Ramalho, Fernanda Naira Zambelli; Foss, Maria Cristina; Schmidt, André

doi:10.36660/abc.20190016

Cited by 3 publications

(4 citation statements)

References 24 publications

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“…Speculation exists that disrupted glucose metabolism associated with the condition may activate pro-hypertrophy genes, potentially explaining this correlation. Furthermore, it’s crucial to consider the involvement of laminopathies and the neuromuscular presentation in the intricate interplay between familial lipodystrophy and its cardiac manifestations ( 7 , 8 , 20 ).…”

Section: Discussionmentioning

confidence: 99%

“…The absence of sufficient AT leads to the accumulation of lipids in ectopic tissues and organs such as muscle, liver, pancreas, and epicardial tissue, contributing to insulin resistance and associated c o m p l i c a t i o n s , i n c l u d i n g d i a b e t e s m e l l i t u s ( D M ) , hypertriglyceridemia, polycystic ovary syndrome (PCOS), pancreatitis, metabolic fatty liver disease (MAFLD), and cardiovascular disease (CVD) (2,(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

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Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study

Guidorizzi,

Valerio,

Viola

et al. 2024

Front. Endocrinol.

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BackgroundThere is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by partial subcutaneous fat loss.ObjectiveThis study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population.MethodsIn a multicenter cross-sectional investigation we evaluated patients with FPLD across five Brazilian reference centers for lipodystrophies. Diagnosis of FPLD was made by clinical evaluation and genetic confirmation. Data on genetic, clinical, and metabolic characteristics were captured. Statistical analysis involved the utilization of the Kruskal-Wallis test to identify differences.ResultsThe study included 106 patients with genetic confirmation of FPLD. The mean age was 44 ± 15 years, and they were predominantly female (78.3%). LMNA pathogenic variants were identified in 85.8% of patients, PPARG in 10.4%, PLIN1 in 2.8%, and MFN2 in 0.9%. Diabetes mellitus (DM) was highly prevalent (57.5%), affecting 54 females (50.9%). Median triglycerides levels were 199 mg/dL (54–2724 mg/dL), severe hypertriglyceridemia (≥ 500 mg/dL) was found in 34.9% and pancreatitis in 8.5%. Metabolic-associated fatty liver disease (MAFLD) was observed in 56.6%, and cardiovascular disease in 10.4%. The overall mortality rate was 3.8%, due to cardiovascular events.ConclusionThis study presents an extensive cohort of Brazilian patients with FPLD, predominantly DM with several multisystem complications. A comprehensive characterization of lipodystrophy syndromes is crucial for effective patient management and care.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study

Guidorizzi,

Valerio,

Viola

et al. 2024

Front. Endocrinol.

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“…Nosso estudo também reassegurou que esses pacientes apresentam níveis mais altos de pressão arterial, como demonstrado em outras coortes. 13 Isso poderia ser um fator de confusão, como um gatilho para a hipertrofia miocárdica. Para superar essa limitação, realizamos uma análise univariada e multivariada para analisar os níveis de PAS como um potencial fator de confusão na relação entre LP e parâmetros ecocardiográficos.…”

Section: Discussionunclassified

“…Our study also reassured that these patients have higher arterial pressure levels, as demonstrated in other cohorts. 13 This could be a confounder as a trigger to myocardium hypertrophy. To overcome this limitation, we performed univariate and multivariate analysis to account for SBP levels as a potential confounder in the relationship between PL and echocardiographic parameters.…”

Section: Discussionmentioning

confidence: 99%

Alterações Ecocardiográficas da Geometria e da Função Cardíaca em Pacientes com Lipodistrofia Familiar Parcial

Romano,

Sapalo,

Guidorizzi

et al. 2024

Arq. Bras. Cardiol.

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Resumo Fundamento: A cardiomiopatia associada à lipodistrofia parcial (LP) ainda não foi bem descrita. Objetivo: Caracterizar a morfologia e a função cardíaca na LP. Métodos: Pacientes com LP e controles foram avaliados prospectivamente por ecocardiografia transtorácica e ecocardiografia por speckle-tracking (Strain Longitudinal Global, SLG). A relação entre as variáveis ecocardiográficas e o diagnóstico de LP foi testada com modelos de regressão, considerando o efeito da pressão arterial sistólica (PAS). Adotou-se um nível de significância de 5%. Resultados: Vinte e nove pacientes com LP foram comparados com 17 controles. Eles não se diferiram quanto à idade (p=0,94), sexo ou índice de massa corporal (p= 0,05). Os pacientes com LP apresentaram PAS estatisticamente mais alta (p=0,02) em comparação aos controles. Ainda, os pacientes com LP apresentaram maior dimensão do átrio (37,3 ± 4,4 vs. 32,1 ± 4,3 mm, p= 0,001) e maior volume atrial (30,2 ± 7,2 vs. 24,9 ± 9,0 mL/m2, p=0,02), massa do Ventrículo Esquerdo (VE) (79,3 ± 17,4 vs. 67,1 ± 19,4; p=0,02), e parâmetros sistólicos reduzidos do VE (E’ lateral, p= 0,001) (E’ septal, p= 0,001), (razão E/E’, p= 0,02). A fração de ejeção do VE (64,7 ± 4,6 vs. 62,2 ± 4,4 %, p = 0,08) e o SLG não foram estatisticamente diferentes entre os grupos (-17,1±2,7 vs-18.0 ± 2,0%, p= 0,25). Observou-se uma reação positiva do átrio esquerdo (β 5,6; p<0,001), espessura da parede posterior (β 1,3; p=0,011), E’ lateral (β -3,5; p=0,002) e E’ septal (β -3,2; p<0,001) com o diagnóstico de LP, mesmo após o ajuste para a PAS. Conclusão: Os pacientes com LP apresentam hipertrofia do VE, aumento do átrio esquerdo, e disfunção diastólica do VE apesar de fração de ejeção do VE e SLG preservados. Os parâmetros ecocardiográficos estão relacionados com o diagnóstico de LP, independentemente da PAS.

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Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event

Beires

Greenfield

Silva

et al. 2022

European Journal of Case Reports in Internal Medicine

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A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.

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Alterações Cardiovasculares em Pacientes Portadores de Lipodistrofia Familiar

Abstract: Romando et al. Alterações cardíacas na lipodistrofia familiarArq Bras Cardiol. 2020; 114(2):305-312

Cited by 3 publications

References 24 publications

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study

Alterações Ecocardiográficas da Geometria e da Função Cardíaca em Pacientes com Lipodistrofia Familiar Parcial

Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event

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