Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Dod, Harvinder S.; Bhardwaj, Ravindra; Hummel, Marybeth; Morise, Anthony P.; Batish, Satdev; Warden, Bradford; Beto, Robert J.; Jain, Abnash C.

doi:10.1002/ajmg.a.33155

Cited by 6 publications

(6 citation statements)

References 28 publications

(38 reference statements)

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“…While no population-based study of Ebstein anomaly has reported this association (possibly due to small numbers), other cardiac defects [Bauk et al, 2003;Cyrus et al, 2007]. Interestingly, our finding of a case of Ebstein anomaly with 1p36 deletion has been reported in several clinical reports [Gajecka et al, 2007;Battaglia et al, 2008;Dod et al, 2009]. Additionally, trisomy 9 and Holt-Oram syndrome (found in our case population) have been associated with Ebstein anomaly in previous assessments [reviewed in Miller et al, 2005].…”

Section: Discussionsupporting

confidence: 48%

Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Lupo

Langlois

Mitchell

2011

American J of Med Genetics Pt A

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Ebstein anomaly is a rare but serious cardiac defect, however, little is known about the etiology of this condition. The goal of this study was to expand our limited understanding of the epidemiology of Ebstein anomaly. Data for cases with Ebstein anomaly, as well as all live births, were obtained from the Texas Birth Defects Registry (TBDR) and Center for Health Statistics for the period 1999-2005. Descriptive analyses and estimates of birth prevalence and crude prevalence ratios were used to characterize this defect in Texas during the study period. There were 188 definite cases of Ebstein anomaly identified in the TBDR. The overall prevalence was 0.72 per 10,000 live births. Variables associated with an increased prevalence of non-syndromic Ebstein anomaly included: maternal age >39 years (compared to those 20-24 years), maternal residence along the Texas-Mexico border (compared to non-border residence), and conception in fall or winter (compared to summer). In addition, infants with Ebstein anomaly were at a greater risk of preterm birth and being small for gestational age. These findings help to define subgroups of women at increased risk of having offspring affected by Ebstein anomaly. Furthermore, our findings add to the limited body of literature on this rare but serious malformation.

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Section: Discussionsupporting

confidence: 48%

Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Lupo

Langlois

Mitchell

2011

American J of Med Genetics Pt A

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“…Also, case reports have identified cases of trisomy 21 with Ebstein anomaly [Bauk et al, 2003; Cyrus et al, 2007]. Interestingly, our finding of a case of Ebstein anomaly with 1p36 deletion has been reported in several clinical reports [Gajecka et al, 2007; Battaglia et al, 2008; Dod et al, 2009]. Additionally, trisomy 9 and Holt–Oram syndrome (found in our case population) have been associated with Ebstein anomaly in previous assessments [reviewed in Miller et al, 2005].…”

Section: Discussionsupporting

confidence: 72%

Optimized flurbiprofen cationic liposomes in situ gelling system of thermosensitive polymers for ocular delivery

He¹,

Xu²,

Nie³

et al. 2011

J of Applied Polymer Sci

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A Flurbiprofen (FP) cationic liposomes in situ gelling system (CLIGS) of thermosensitive polymers was proposed; we investigated its in vitro and in vivo properties, and its potential use in ocular drug delivery was evaluated. This system, optimized via center composite design, was conceived from a combination of polymerand lipid-based delivery systems. Therefore, the system could integrate the advantages of both cationic liposomes and in situ gels and further improve the poor stability of cationic liposomes. Cationic liposomes were characterized for their particle size, shape, entrapment efficiency, f potential, and photograph of transmission electron microscopy. The in vitro penetration capability and precorneal retention time of the FP CLIGS were evaluated by a vertical Franz-type cell method and c scintigaraphy, respectively. The FP CLIGS showed an improved stability during a 30-day storage period over than of FP cationic liposomes.In conclusion, CLIGS serves as a means to overcome a major limitation of cationic liposomes with a prolonged precorneal retention time, enhanced stability, and convenient administration due to the modified gelatinization temperature; this justifies their use as a carrier adjuvant for ocular delivery behaviors.

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“…Our results also further refine the minimal critical region for a number of the phenotypic features of monosomy 1p36, particularly for hearing loss and LVNC. LVNC has been described in several patients with 1p36 terminal deletions >5 Mb [Thienpont et al, 2007; Cremer et al, 2008; Dod et al, 2010]. Therefore, our patients' deletion represents the smallest deletion associated with LVNC and can help narrow the search for a causative gene(s).…”

Section: Discussionmentioning

confidence: 72%

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

Gajęcka

Saitta

Gentles

et al. 2010

American J of Med Genetics Pt A

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Deletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, implying that genomic instability plays a role in the prevalence of the syndrome. Here we report two siblings with mild phenotypic features of the deletion syndrome, including developmental delay, hearing loss and left ventricular noncompaction (LVNC). Microarray analysis using bacterial artificial chromosome and oligonucleotide microarrays indicated the deletions were identical, suggesting germline mosaicism. Parental phenotypes were normal, and analysis by fluorescence in situ hybridization (FISH) did not show mosaicism. These small interstitial deletions were not detectable by conventional subtelomeric FISH analysis. To investigate the mechanism of deletion further, the breakpoints were cloned and sequenced, demonstrating the presence of a complex rearrangement. Sequence analysis of genes in the deletion interval did not reveal any mutations on the intact homologue that may have contributed to the LVNC seen in both children. This is the first report of apparent germline mosaicism for this disorder. Thus, our findings have important implications for diagnostic approaches and for recurrence risk counseling in families with a child with monosomy 1p36. In addition, our results further refine the minimal critical region for LVNC and hearing loss.

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Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Cited by 6 publications

References 28 publications

Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Optimized flurbiprofen cationic liposomes in situ gelling system of thermosensitive polymers for ocular delivery

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

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