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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.

ABSTRACT: We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the right ventricular outflow tract. At the age of 5 months, echocardiography showed myocardial hypertrophy; this finding combined with the physical characteristics and other examination results led to the consideration of congenital lipodystrophy. Genetic testing at the age of 9 months confirmed type 2 congenital lipodystrophy caused by BSCL2 gene mutation, and dietary modification was initiated. Conventional echocardiography performed at the ages of 5, 8, and 14 months showed no significant changes and a normal ejection fraction. However, two-dimensional speckle-tracking performed between the ages of 5 and 8 months showed cardiac systolic abnormalities that tended to improve after treatment. This case highlights the value of echocardiography in detecting structural and early functional cardiac changes in infants with congenital lipodystrophy.

SUBMITTER: Zhou J

PROVIDER: S-EPMC10076737 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.

Zhou Jie J Liu Hanmin H Chen Jiao J He Xiaolan X

Frontiers in pediatrics 20230323

We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the righ ...[more]

PMID: 37033184

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Project description:Abstract Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by widespread loss of subcutaneous fat and severe metabolic abnormalities. Metreleptin, a synthetic analog of leptin, is a treatment modality that has been shown to decrease fasting triglycerides, fasting glucose, and HbA1c. Metformin use in infants has only been described in a few case reports of CGL and Donohue syndrome (insulin receptor mutation), and there is no established dosing for this age group. We report metreleptin, insulin, and metformin use in an infant with type 1 CGL who presented with marked hypertriglyceridemia, hypoleptinemia, hyperglycemia, and transaminitis. Clinical Case: A 2-month-old African American female born SGA at term presented to her primary care physician for a well child check where she was noted to have poor weight gain, hyperphagia, and abdominal distension. She was subsequently admitted for failure to thrive with weight z-score of -2.17 and length z-score of -0.15. Initial labs were notable for triglycerides of 5,167 mg/dL, HDL 10 mg/dL, blood glucose 324 mg/dL, ALT 212 units/L, AST 215 units/L, and bicarbonate of 17 mmol/L. A random insulin level was elevated at 257 mcIU/mL. Adiponectin was undetectable and leptin was low at 0.3 ng/mL. Hemoglobin A1c was in diabetes mellitus range at 8.9%. She was started on detemir 1.0 units/kg/day on day 1 (titrated to a maximum dose of 4.4 units/kg/day) and metformin 50 mg/kg/day on day 3 of hospitalization. By day 4, triglycerides decreased to 758 mg/dL, AST to 119 units/L and ALT to 124 units/L. Pre-prandial glucoses improved ranging from 113 to 138 mg/dL. As her insurance denied coverage for detemir, she was discharged home on glargine 0.7 units/kg/day and metformin suspension. One month later, she was started on subcutaneous metreleptin, and glargine was discontinued. At 5 months of age, she had triglycerides 229 mg/dl, normal liver enzymes, and normal blood glucoses while on 0.056 mg/kg/day of subcutaneous metreleptin and metformin. Medications were well tolerated without side effects. She had improved growth and met all developmental milestones. Genetic evaluation revealed that she was homozygous for a pathogenic variant, c.589-2A>G; p.Gln196fs*228 (rs116807569), in the AGPAT2 gene. Conclusion: Leptin is important in regulation of lipid and glucose metabolism, and patients with CGL are deficient due to lack of adipose tissue. Metabolic abnormalities, including stabilization of glucoses and improved hypertriglyceridemia, in our patient markedly improved with initiation of metreleptin, metformin, and insulin. We present successful dosing of these treatment modalities without adverse reactions in an infant with CGL.

Project description:ContextLipodystrophy syndromes are rare disorders of deficient adipose tissue, low leptin, and severe metabolic disease, affecting all adipose depots (generalized lipodystrophy, GLD) or only some (partial lipodystrophy, PLD). Left ventricular (LV) hypertrophy is common (especially in GLD); mechanisms may include hyperglycemia, dyslipidemia, or hyperinsulinemia.ObjectiveDetermine effects of recombinant leptin (metreleptin) on cardiac structure and function in lipodystrophy.MethodsOpen-label treatment study of 38 subjects (18 GLD, 20 PLD) at the National Institutes of Health before and after 1 (N = 27), and 3 to 5 years (N = 23) of metreleptin. Outcomes were echocardiograms, blood pressure (BP), triglycerides, A1c, and homeostasis model assessment of insulin resistance.ResultsIn GLD, metreleptin lowered triglycerides (median [interquartile range] 740 [403-1239], 138 [88-196], 211 [136-558] mg/dL at baseline, 1 year, 3-5 years, P < .0001), A1c (9.5 ± 3.0, 6.5 ± 1.6, 6.5 ± 1.9%, P < .001), and HOMA-IR (34.1 [15.2-43.5], 8.7 [2.4-16.0], 8.9 [2.1-16.4], P < .001). Only HOMA-IR improved in PLD (P < .01). Systolic BP decreased in GLD but not PLD. Metreleptin improved cardiac parameters in patients with GLD, including reduced posterior wall thickness (9.8 ± 1.7, 9.1 ± 1.3, 8.3 ± 1.7 mm, P < .01), and LV mass (140.7 ± 45.9, 128.7 ± 37.9, 110.9 ± 29.1 g, P < .01), and increased septal e' velocity (8.6 ± 1.7, 10.0 ± 2.1, 10.7 ± 2.4 cm/s, P < .01). Changes remained significant after adjustment for BP. In GLD, multivariate models suggested that reduced posterior wall thickness and LV mass index correlated with reduced triglycerides and increased septal e' velocity correlated with reduced A1c. No changes in echocardiographic parameters were seen in PLD.ConclusionMetreleptin attenuated cardiac hypertrophy and improved septal e' velocity in GLD, which may be mediated by reduced lipotoxicity and glucose toxicity. The applicability of these findings to leptin-sufficient populations remains to be determined.

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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.

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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.

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