Congenital Heart Disease in de Langeʼs Syndrome

Rd, Greenwood; Sommer, A; Craenen, Josepha; Jd, Waldman; Rosenthal, Amnon

doi:10.1097/00007611-197701000-00035

Cited by 9 publications

(5 citation statements)

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“…Congenital heart malformations (CHD) were present in 45.2% of patients. Rates of CHD associated with CdLS reported in the literature range from 13% to 70% [Greenwood et al, 1977; Jackson et al, 1993; Mehta and Ambalavanan, 1997; Martinez‐Frias et al, 1998; Tsukahara et al, 1998]. We detected genitourinary defects in 15.1% of patients.…”

Section: Discussionmentioning

confidence: 50%

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Barišić

Tokić

Loane

et al. 2007

American J of Med Genetics Pt A

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Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed

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Section: Discussionmentioning

confidence: 50%

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Barišić

Tokić

Loane

et al. 2007

American J of Med Genetics Pt A

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“…To date, there has been no progression of hypertrophy, no significant left ventricular (LV) outflow tract obstruction, and no evidence of left ventricular dilation or systolic dysfunction. Of note, no additional structural cardiac anomalies were identified in our patient, despite a reported incidence of congenital heart disease in about 30% of CdLS [Greenwood et al, , Selicorni et al, ]. Previously reported cardiac defects in patients with SMC1A ‐associated CdLS can be found in Table .…”

Section: Discussionmentioning

confidence: 52%

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Wenger

Chow

Randle

et al. 2016

American J of Med Genetics Pt A

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Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

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“…The two BDLS patients with ECD (who were the only cases with this syndrome in the study) appear to be somewhat unusual, since ECD is not a commonly reported CHD in this syndrome. About 30% of cases with BDLS have a congenital heart defect, with tetralogy of Fallot and right-heart obstructive lesions being frequently reported [Greenwood et al, 1977;Beck and Fenger, 19851. However, since VSD is also common in BDLS [Schinzel, 19831, the question of the prevalence of the AV canal type of VSD should be raised.…”

Section: Discussionmentioning

confidence: 99%

Endocardial cushion defect: Further studies of “isolated” versus “syndromic” occurrence

1992

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The isolated occurrence of endocardial cushion defect (ECD) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated cardiovascular malformations. Analysis of data derived from the Baltimore-Washington Infant Study of congenital cardiovascular malformations supports the observation that "syndromic" ECD tends to be of the complete atrioventricular canal type and is less frequently associated with left cardiac anomalies than the isolated form. However, each syndrome has a unique impact on the overall cardiovascular "phenotype", including the ECD. This is especially true for Down and Ivemark syndromes, which are most frequently associated with ECD, but also for other syndromes as well. It is also suggested that isolated ECD is specifically associated with gastrointestinal and urinary tract anomalies. However, in Down syndrome ECD appears to be a specific cardiovascular expression of the trisomic state that is unrelated to other noncardiac malformations. Additional information on the association of ECD with other less common genetic syndromes is needed in order to further investigate the possible genetic basis of this cardiac defect.

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Congenital Heart Disease in de Langeʼs Syndrome

Cited by 9 publications

References 0 publications

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Endocardial cushion defect: Further studies of “isolated” versus “syndromic” occurrence

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