End‐stage ischemic heart failure and Williams–Beuren syndrome: A unique scenario for pediatric heart transplantation

Abstract

WBS is a rare disorder caused by mutations in the chromosomal sub-band 7q11.23 involving the elastin gene. The clinical features (craniofacial, developmental, and cardiovascular abnormalities) are variable. The association with cardiac anomalies is a well-recognized feature, and SVAS is the most common cardiac defect found. End-stage ischemic heart disease is unusual in this setting but when it occurs, OHT remains the final therapeutic option. This decision can be difficult to determine, and it must be tailored to the individual patient based on the clinical status and concomitant cardiovascular and multisystem lesions. To date, no cases of OHT in patients with WBS have been described. We present a 14-month-old patient with WBS who developed severe LV dysfunction secondary to ischemia following a complex staged surgery for SVAS repair. He underwent successful OHT with no post-operative complications, and at three-month follow-up, he remains asymptomatic on standard immunosuppressive therapy. This case constitutes the first demonstration that OHT may be indicated for extended survival in selected children with WBS and we discuss the basic principles for extending the indication for OHT to this scenario as well as the particularities for post-transplant care.

Heart transplantation in an infant with Williams‐Beuren syndrome and rapidly progressive ischemic cardiomyopathy

“…The only case in the literature of heart transplantation in WBS is a 14‐month‐old child with HF following repair of SVAS . In contrast, our patient developed HF as a direct consequence of the de novo cardiovascular abnormalities of WBS.…”

Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

“…Pediatric HT for syndromic patients is already a complicated scenario, and it becomes even more when taking into account that WBS is a multisystem disorder that can potentially cause issues following the transplant due to the systemic arterial stenoses. Furthermore, even though it has been inferred that there is no increased risk for postoperative complications like rejection, infection, or neoplasms (González‐López et al, 2016), WBS patients have a significantly higher mortality risk associated with surgical interventions, as previously discussed. Nonetheless, there is no formal contraindication of HT in WBS patients, and each case must be considered individually, considering the overall clinical condition and prognosis of the patient (Colan, 2015).…”

“…Recently, two cases of successful HT in WBS were reported, both in male infants. The first report is of a 14-month-old male with heart failure following repair of SVAS (González-L opez et al, 2016). The second report is of a 2-month-old male with mild aortic stenosis during the neonatal period that developed heart failure as a direct consequence of a rapidly progressive supravalvar and coronary artery stenosis (Baez Hernandez et al, 2020).…”

Fatal severe coronary artery stenosis in Williams syndrome: decision making using late gadolinium enhancement cardiovascular MRI

“…3 Significant coronary arterial stenosis leading to end-stage ischaemic heart disease or myocardial infarction, however, is rarely seen. [4][5][6] Although the cardiovascular diagnosis in this child was initially assessed using echocardiography and cardiac catheterisation, cardiovascular magnetic resonance allowed for confirmation of end-stage ischaemic heart disease showing severe regional left ventricular dysfunction and dilation on cine images as well as widespread endomyocardial and transmural apical fibrosis by late gadolinium enhancement imaging.…”