Bardet–Biedl syndrome presenting as dilated cardiomyopathy

Chakravarthy, D.J.K.; Sarma, Yerraguntla S.; Sriharibabu, M; Subhramanyam, K.; Sivakumar, T.; Chandrakanth, Karuvakandy Chandrasekharan

doi:10.1016/j.jicc.2013.05.002

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…Bardet-Biedl syndrome is a genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, central obesity, and secondary amenorrhea [15]. This syndrome is also associated with diabetes mellitus, hepatic fibrosis, and heart diseases such as DCM [15]. Cartinoiu et al reported a case of a 20-year-old Caucasian male with hearing and vision loss, insulin-resistant diabetes, short stature, and DCM [16].…”

Section: Bardet-biedl Syndromementioning

confidence: 99%

Diabetic Cardiomyopathy as a Clinical Entity: Is It a Myth?

Zaveri¹,

Perry²,

Schuetz³

et al. 2020

Cureus

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Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that affects the cardiac muscle. It is a life-threatening condition that causes heart failure as it decreases the myocardial ability to pump sufficient blood throughout the body. Numerous causes trigger DCM without pathophysiology; however, the key concept is a decrease in the systolic function of either the left ventricle or of both the left and right ventricles. Long-term diabetes plays an important role in the pathogenesis of DCM in the form of diabetic cardiomyopathy. Diabetic cardiomyopathy is a non-ischemic form of DCM, which is associated with diabetes. It is unrelated to atherosclerosis and hypertension. The PubMed and Google Scholar databases were used to identify the relevant studies related to diabetes and DCM. We found that diabetes was associated with cardiac muscle injury by activating the renin-angiotensin-aldosterone system, myocardial inflammation, and fibrosis. Based on the available data, we concluded that there is strong evidence to support the interrelation of DCM and diabetes.

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Section: Bardet-biedl Syndromementioning

confidence: 99%

Diabetic Cardiomyopathy as a Clinical Entity: Is It a Myth?

Zaveri¹,

Perry²,

Schuetz³

et al. 2020

Cureus

View full text Add to dashboard Cite

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“…Su prevalencia en la población general es de 1 por cada 125,000 nacimientos, en Europa de 1:140.000 y en América del Norte de 1: 160.000 (2). Es una enfermedad rara, genéticamente heterogénea y con amplia variabilidad en sus manifestaciones clínicas (3). El diagnóstico es básicamente clínico y se requiere la presencia de cuatro criterios mayores o tres mayores asociados a dos menores para hacer el diagnóstico, ver Tabla No.…”

Section: Introductionunclassified

Síndrome de Bardet Biedl: Reporte de Caso

Andino

Pacheco

Escobar

et al. 2021

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Antecedente: el Síndrome de Bardet Biedl (SBB) es una ciliopatía con afectación multisistémica, de herencia autosómica recesiva, siendo una patología poco conocida por su presentación clínica variable con 325 casos descritos a nivel mundial; en Honduras se ha reportado un caso únicamente en 2010. Este síndrome es caracterizado por obesidad central, déficit de aprendizaje, distrofia de retina, hipogonadismo, anomalías renales, genitales y en extremidades. Descripción de caso clínico: escolar femenina, de 11 años de edad, con antecedente de disminución de agudeza visual y déficit cognitivo severo, acudió al servicio de emergencia por presentar signos asociados a infección del tracto urinario. Al examen físico obesidad central, fenotipo peculiar con hipertelorismo, epicanto, puente nasal plano, alteración del lóbulo de oreja izquierda, polidactilia en los cuatro miembros y genu valgo por lo que se sospechó de SSB. Conclusión: Los reportes de caso del síndrome de Bardet Biedl son escasos, siendo este el segundo descrito en el país, sus características clínicas permitieron orientar su diagnóstico y así brindarle un manejo integral.

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Bardet–Biedl syndrome presenting as dilated cardiomyopathy

Cited by 2 publications

References 7 publications

Diabetic Cardiomyopathy as a Clinical Entity: Is It a Myth?

Diabetic Cardiomyopathy as a Clinical Entity: Is It a Myth?

Síndrome de Bardet Biedl: Reporte de Caso

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