Thirty-Year Survival After Cardiac Surgery in Children with Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study).

Thirty-Year Survival After Cardiac Surgery in Children with Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study).

Zinyandu T, Montero AJ, Thomas AS, Sassis L, Kefala-Karli P, Knight J, Kochilas LK.Am J Cardiol. 2023 Jan 15;187:48-53. doi: 10.1016/j.amjcard.2022.10.037. Epub 2022 Nov 29.PMID: 36459747

Take home points:

  • The overall 30-year survival rate for Williams-Beuren syndrome (WBS) and requiring intervention is 90%
  • Survival rate is higher (96%) for those with isolated left or right heart lesions and lower (83.4%) for those with combined disease

Commentary from Dr. Jared Hershenson (Greater Washington DC), section editor of Pediatric Cardiology Journal Watch:

WBS is an autosomal dominant condition due to a mutation in the 7q11.23 region that includes the elastin gene. Congenital heart disease is seen in up to 90% of patients with the most common lesions including supravalvar aortic stenosis/SVAS (left heart obstructive lesion/LHOL) and pulmonary artery stenosis/PAS (right heart obstructive lesion/RHOL). The majority of patients require surgery and/or transcatheter interventions. The risk of CV events and death is higher during hospitalizations and need for anesthesia and there is also risk of sudden cardiac death thought to be due to congenital coronary abnormalities. 

This was a retrospective cohort study of 200 patients with WBS who underwent cardiac interventions between 1982-2009 and enrolled in the Pediatric Cardiac Care Consortium registry. Most patients were male (61.6%) and had combined LHOL/RHOL (49%). Isolated LHOL was seen in 37% and isolated RHOL in 11%, with females more likely to have RHOL. See Table 1. A supplementary table lists all of the various LHOL and RHOL, but the most common were SVAS and PAS. Nearly all patients with isolated LHOL required surgery as the first intervention. About 39% of all patients required a subsequent procedure. Over a median of 23.7 years, and up to 30 years later, 16 deaths were recorded. Figure 2 shows the survival plot after the first CHD intervention. Attrition was highest during the first year of follow up, but the overall 30-year survival rate was 90.1%. Highest mortality was seen in combined LHOL/RHOL which was 83.4%. Adjusted analysis identified the combined LHOL/RHOL group to have a 6.85 times hazard for death.  There was also an era effect with higher mortality in the earlier periods (1982-1992 and 1992-1997) then the latest period (1998-2009). CHD was listed as the most common cause of death (65%), with 31% attributed to ischemic heart disease and 25% due to heart failure or arrhythmias. 

This study is the longest follow up for WBS patients and shows overall quite good survival. Limitations include lack of information on possible significant contributing factors to survival that were not included in the PCCC registry, including socioeconomic status, medications, or other procedures. Additionally, there is limited discussion regarding coronary issues, hypertension and renal artery abnormalities, or QTc prolongation, all of which may be associated with cardiac morbidity and mortality in WBS. The article also does not include those patients who did not require interventions. Presumably, this group would have a better survival rate, but whether they would also be at similar risk for sudden cardiac death is not clear. 

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