Holt‐Oram syndrome associated with the hypoplastic left heart syndrome

Glauser, Tracy A.; Zackai, Elaine H.; Weinberg, Paul M.; Clancy, Robert R.

doi:10.1111/j.1399-0004.1989.tb03369.x

Cited by 104 publications

(128 citation statements)

References 12 publications

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“…A growing body of evidence shows that there is a major genetic contribution underlying nonsyndromic HLHS (33,36). Although the designation of HLHS as a "syndrome" is thought to be a misnomer from a human genetics perspective, extracardiac anomalies are frequently encountered, including CNS and renal abnormalities (5,35,37). The shared genetic basis of these findings suggests the possibility that HLHS is a true heart-brain syndrome.…”

Section: Microcephaly and Outcomes In Hlhsmentioning

confidence: 99%

“…HLHS is uniformly fatal without a series of palliative reconstructive surgeries in the first years of life. Despite dramatic improvements in treatment, HLHS continues to be associated with significant mortality and morbidities (2-4), including short-and long-term central nervous system (CNS) abnormalities (5)(6)(7). In addition, there is a rapidly growing population of adult survivors with chronic morbidities that are only now beginning to be understood (8).…”

mentioning

confidence: 99%

“…However, recent studies have implicated additional factors in the relationship between CNS abnormalities identified in neonates after birth but before surgery (17,18). Furthermore, early CNS abnormalities, including agenesis of the corpus callosum, as well as holoprosencephaly and microcephaly, have been identified in approximately one-quarter of HLHS neonates (5,15). Recently, we described poor fetal head growth and white matter injury despite normal brain weight in HLHS, identifying a spectrum of fetal CNS pathology (19).…”

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confidence: 99%

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Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome

et al. 2013

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Background: Hypoplastic left heart syndrome (HLHS) is associated with significant mortality and morbidity. Fetal head growth abnormalities have been identified in a subset of HLHS fetuses, but it is unclear whether specific patterns of maladaptive growth affect clinical outcomes. We hypothesized that poor fetal head growth is associated with an increased frequency of adverse clinical outcomes. Methods: We retrospectively examined a cohort of HLHS patients from midgestation to 1 y of age. Fetal and birth anthropometric measurements were analyzed using the Olsen standard, and clinical outcomes were obtained. results: A total of 104 HLHS patients were identified over a 12-y period; fetal data were available in 38 cases. HLHS neonates demonstrated a high incidence of microcephaly (12%), small head size (27%), and poor head growth (32%). Allcause mortality was 31% at 30 d and 43% at 1 y. Neurologic outcomes were observed in 12% of patients and were significantly increased with microcephaly (43 vs. 4%; P = 0.02). The average length of hospital stay following stage I palliation was 33.4 ± 33 d, correcting for early death. conclusion: In term nonsyndromic HLHS, fetal and neonatal microcephaly are associated with early adverse neurologic outcomes but not mortality.

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Section: Microcephaly and Outcomes In Hlhsmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome

et al. 2013

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“…Therefore, it is difficult and overspeculative to draw many conclusions when comparing their findings with ours. Glauser et al 25 recommended screening examinations of intracranial anatomy in all patients with hypoplastic left heart syndrome due to a somewhat elevated incidence of cerebral abnormalities found on autopsy. Of note, their cohort included infants with significant genetic or malformation syndromes that could be associated with neurodevelopmental impairment.…”

Section: Discussionmentioning

confidence: 99%

Usefulness of Routine Head Ultrasound Scans Before Surgery for Congenital Heart Disease

et al. 2013

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WHAT'S KNOWN ON THIS SUBJECT: Routine head ultrasound scans (HUSs) are frequently performed in the preoperative evaluation of the infants with congenital heart disease, and brain MRI is being increasingly used in the research setting. The utility of HUSs in this population has not yet been established. WHAT THIS STUDY ADDS:This is the first study to prospectively evaluate the utility of routine HUSs compared with MRIs in asymptomatic newborns and young infants undergoing cardiac surgery. Our findings suggest that routine HUS is not indicated in asymptomatic term or near-term neonates undergoing surgery for CHD.abstract OBJECTIVE: The purpose of this study was to assess the utility of preoperative head ultrasound scan (HUS) in a cohort of newborns also undergoing preoperative MRI as part of a prospective research study of brain injury in infants having surgery for congenital heart disease (CHD). METHODS: A total of 167 infants diagnosed with CHD were included in this 3-center study. None of the patients had clinical signs or symptoms of preoperative brain injury, and all patients received both HUS and brain MRI before undergoing surgical intervention. HUS and MRI results were reported by experienced neuroradiologists who were blinded to any specific clinical details of the study participants. The findings of the individual imaging modes were compared to evaluate for the presence of brain injury. RESULTS: Preoperative brain injury was present on HUS in 5 infants (3%) and on MRI in 44 infants (26%) (P , .001). Four of the HUS showed intraventricular hemorrhage not seen on MRI, suggesting false-positive results, and the fifth showed periventricular leukomalacia. The predominant MRI abnormality was white matter injury (n = 32). Other findings included infarct (n = 16) and hemorrhage (n = 5). CONCLUSIONS: Preoperative brain injury on MRI was present in 26% of infants with CHD, but only 3% had any evidence of brain injury on HUS. Among positive HUS, 80% were false-positive results. Our findings suggest that routine HUS is not indicated in asymptomatic term or near-term neonates undergoing surgery for CHD, and MRI may be a preferable tool when the assessment of these infants is warranted. Pediatrics 2013;131:e1765-e1770 Neurodevelopmental impairment is the most common long-term, noncardiac morbidityaffecting neonates undergoing surgery for congenital heart disease (CHD). The impact of this impairment is far-reaching and may not be manifest very early in life but instead may become apparent in later childhood, often extending into adolescence. [1][2][3][4][5] Given the potential relationship between brain injury and impaired outcome, and the possibility that aspects of cardiac surgery could further worsen preexisting brain injury, preoperative brain imaging is commonly used in the clinical setting as well as in the context of prospective investigations of brain injury in this highrisk group.The spectrum of brain injury affecting newborns with heart disease includes stroke or infarct, hemorrhage, and white matter injury (...

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“…This syndrome has an autosomal dominant inheritance, but due to genetic heterogeneity, it occurs sporadically in families. It is frequently associated with pulmonary valve stenosis, hypertrophic cardiomypathy, atrial septal defect, tetralogy of Fallot, aortic coarctation, mitral valve anomalies, and atrioventricular canal (Glauser, Rorke, Weinberg, & Clancy, 1990). Clinical course often includes poor feeding and gastrointestinal dysfunction, which can lead to failure to thrive.…”

Section: Noonan Syndromementioning

confidence: 99%

Clinical Syndromes and Associations with Persistent Pulmonary Hypertension of the Newborn

Kim¹,

Katheria²

2011

Pulmonary Hypertension - From Bench Research to Clinical Challenges

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Holt‐Oram syndrome associated with the hypoplastic left heart syndrome

Abstract: We present the first case of Holt‐Oram syndrome associated with the lethal congenital heart defect of hypoplastic left heart syndrome. The possible pathophysiological link is explored and the need for careful genetic and cardiologic evaluation in these patients is reiterated.

Cited by 104 publications

References 12 publications

Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome

Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome

Usefulness of Routine Head Ultrasound Scans Before Surgery for Congenital Heart Disease

Clinical Syndromes and Associations with Persistent Pulmonary Hypertension of the Newborn

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