Heart disease in the Laurence-Moon-Biedl-Bardet syndrome

McLoughlin, Thomas G.; Krovetz, L. Jerome; Schiebler, Gerold L.

doi:10.1016/s0022-3476(64)80403-0

Cited by 41 publications

(9 citation statements)

References 16 publications

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“…However, 11 of them did have cardiovascular involvement and 7 of these were males. McLoughlin et al [1964] have described three young brothers whom they diagnosed as "LMBB syndrome." Two of the sibs had cyanotic congenital heart defects and one had mild systemic hypertension.…”

Section: Discussionmentioning

confidence: 99%

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

et al. 1994

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The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.

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Section: Discussionmentioning

confidence: 99%

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

et al. 1994

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“…Cardiac manifestations of BBS have previously been reported as congenital heart disease, ventricular hypertrophy, and cardiomyopathy . In 1964, McLaughlin , et al .…”

Section: Discussionmentioning

confidence: 99%

Anesthetic considerations for patients with Bardet–Biedl syndrome: a case series and review of the literature

Smith

Barbara

Hyder

et al. 2016

Pediatric Anesthesia

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We identified 12 patients with BBS undergoing 40 anesthetics at our institution. The study identified a high risk for difficult airway with need for advanced airway techniques (67% of patient's ≥ 18 years of age required either awake fiberoptic or video laryngoscopy techniques), cardiac abnormalities, renal impairment, morbid obesity, and intellectual disability as the main syndrome manifestations of interest to the anesthesiologist. No patient had perioperative complications directly related to BBS; however, each underwent thorough perioperative evaluation with emphasis on the systemic comorbidities associated with the syndrome. This report illustrates that patients with BBS can safely undergo anesthesia, but a detailed and often multidisciplinary preoperative evaluation is prudent.

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“…The third feature favoring a concept of bilateral "left-sidedness" is absence of the gallbladder, as occurred in one of our cases and one described in the literature. 9 The fourth is the frequent infrahepatic interruption of the inferior vena cava. This portion of the inferior vena cava normally develops from a rightsided venous structure.…”

Section: Other Abnormalitiesmentioning

confidence: 99%

Congenital Cardiac Disease Associated with Polysplenia

et al. 1967

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SUMMARYThe well-recognized association of congenital cardiac disease with asplenia has been termed "bilateral right-sidedness" or dextro-isomerism, since the spleen is absent, the liver is symmetrical, and each lung has three lobes and an epiarterial bronchus. In a study of pathological material from 12 patients with congenital cardiac disease associated with multiple spleens (as contrasted to accessory spleen), we found a definite tendency for the symmetrical development of organs but with a tendency for bilateral left-sidedness or levo-isomerism.The abnormalities assumed one of three forms as follows: (1) absence of a normal right-sided structure, (2) bilateral organs, each with the structure of a left-sided organ, or (3) excessive tissue of a left-sided organ. Thus, in polysplenia we observed a tendency for (1) absence of the hepatic segment of the inferior vena cava and absence of the gallbladder, (2) two lobes in each lung with hyparterial bronchi, and (3) multiple spleens. Other noncardiac abnormalities were partial or complete abdominal heterotaxia and partial malrotation of the bowel. The cardiac malformations included dextrocardia, bilateral superior venae cavae, anomalous pulmonary venous connection with malposition of the atrial septum, and defects in the atrial septum and in the ventricular septum.Our study suggests that the developmental complex of multiple spleens is closely related to the asplenic syndrome, with the important difference being left-sided symmetry rather than right-sided symmetry.

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Heart disease in the Laurence-Moon-Biedl-Bardet syndrome

Cited by 41 publications

References 16 publications

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

Anesthetic considerations for patients with Bardet–Biedl syndrome: a case series and review of the literature

Congenital Cardiac Disease Associated with Polysplenia

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