Sudden unexpected death in a toddler with Williams syndrome

Krous, Henry F.; Wahl, Carter E.; Chadwick, Amy E.

doi:10.1007/s12024-008-9035-y

Cited by 10 publications

(8 citation statements)

References 54 publications

(64 reference statements)

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“…Histiocytoid cardiomyopathy was diagnosed in one case (Case 14) at autopsy by microscopic examination. We previously reported the case of coronary artery stenosis and sudden death in the child with Williams syndrome (Case 12) whose diagnosis was confirmed by a fluorescent in situ hybridization (FISH) study prior to death that showed a heterozygous deletion of band 7q11.23 [ 13 ]. Specific testing during the child’s life was sought based upon the clinical findings suggestive of Williams syndrome.…”

Section: Resultsmentioning

confidence: 99%

Sudden unexpected death in early childhood: general observations in a series of 151 cases

Hefti

Kinney

Cryan

et al. 2016

Forensic Sci Med Pathol

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PurposeThe purpose of this study was to determine the major subcategories and clinicopathologic features of sudden unexpected death in young children in a large retrospective cohort, and to confirm the association of sudden unexplained death in children (abbreviated by us for unexplained deaths as SUDC) with hippocampal pathology and/or febrile seizures.MethodsWe undertook analysis of a retrospective cohort of 151 cases, of which 80 % (121/151) were subclassified as SUDC, 11 % (16/151) as explained, 7 % (10/151) as undetermined, and 3 % (4/151) as seizure-related.ResultsThere were no significant differences between SUDC and explained cases in postnatal, gestational, or postconceptional age, frequency of preterm birth, gender, race, or organ weights. In contrast, 96.7 % (117/121) of the SUDC group were discovered during a sleep period compared to 53.3 % (8/15) of the explained group (p < 0.001), and 48.8 % (59/121) of the SUDC cases had a personal and/or family history of febrile seizures compared to 6.7 % (1/15) of the explained group (p < 0.001). Of the explained deaths, 56 % (9/16) were subclassified as infection, 31 % (5/16) cardiac, 6 % (1/16) accidental, and 6 % (1/16) metabolic. Two of the three cases specifically tested for cardiac channelopathies at autopsy based upon clinical indications had genetic variants in cardiac genes, one of uncertain significance. Bacterial cultures at autopsy typically revealed organisms interpreted as contaminants. Two of the four seizure-related deaths were witnessed, with two of the brains from these cases showing generalized malformations. Hippocampal anomalies, including a specific combination we termed hippocampal maldevelopment associated with sudden death, were found in almost 50 % (40/83) of the SUDC and undetermined cases in which hippocampal sections were available.ConclusionsThis study highlights the key role for the hippocampus, febrile seizures, and sleep in SUDC pathophysiology. It also demonstrates the role of known predisposing conditions such as cardiac channelopathies and infections in causing sudden unexpected death in childhood, and the need for improved ancillary testing and protective strategies in these cases, even when the cause of death is established at autopsy.

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Section: Resultsmentioning

confidence: 99%

Sudden unexpected death in early childhood: general observations in a series of 151 cases

Hefti

Kinney

Cryan

et al. 2016

Forensic Sci Med Pathol

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“…In our patient, the risk of catheterization-associated mortality due to intraprocedural fatal arrhythmias and/or cardiac arrest was esteemed too high, also considering poor patient compliance which would have needed deep sedation to accomplish the procedure (Krous et al 2008 ; Bennett et al 2005 ). For such reason, a non-invasive imaging technique was chosen to assess coronary tree anatomy, avoiding sedation or anesthesia.…”

Section: Discussionmentioning

confidence: 88%

Multi-district coronary tree involvement in a 17-year-old girl with Williams–Beuren syndrome

et al. 2015

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We describe a case of 17-year-old Chinese girl referred to our Pediatric Cardiology Unit for asthenia, reduced exercise tolerance, and dyspnea. Past medical history was relevant for multiple chest pain episodes in childhood and several syncopal episodes, for which the patient had been never evaluated. Clinical examination, electrocardiogram, and echocardiography were compatible with Williams–Beuren syndrome; such condition was later confirmed by genetic analysis. Cardiac magnetic resonance imaging showed transmural fibrosis of the apex with impaired left ventricular ejection fraction (29 %), severe stenosis of aortic sinotubular junction with left and right coronary ostia involvement; more importantly, the whole coronary artery tree beyond ostia was affected by multiple stenosis and aneurysmatic tracts. Ascending aorta proved hypoplastic, with post-stenotic dilation and multiple aneurysms. At the end of the diagnostic process, surgical risk was considered too high to proceed with the correction. The presented case is of educational value since it provides good iconographical illustration of diffuse, multiple-site coronary artery tree involvement, a rather rare co-morbidity in Williams–Beuren syndrome.Electronic supplementary materialThe online version of this article (doi:10.1186/s40064-015-1231-0) contains supplementary material, which is available to authorized users.

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“…Thus the occurrence of these two rare conditions in our patient is most likely fortuitous. It is interesting however that patients with Williams carry an increased risk for sudden death which is estimated to be 25 to 100-fold higher than aged matched individuals [ 5 – 7 ]. The causative factors are thought to be related to the associated cardiac abnormalities, namely, the aortic and pulmonary stenosis as well as to myocardial ischemia secondary to coronary insufficiency.…”

Section: Discussionmentioning

confidence: 99%