Overview
Polyvalvular heart disease syndrome is characterized by congenital malformations affecting multiple heart valves, including both atrioventricular and semilunar valves, often presenting alongside extracardiac features suggestive of genetic syndromes. 1Diagnosis
Genetic Testing: Whole Exome Sequencing (WES) can identify causative mutations, such as a nonsense mutation in TAB2 (TAK1) gene. 1
Clinical Features: Presence of multiple valve defects, hypotonia, myopia, soft pale skin, joint hypermobility, and mild facial dysmorphism may suggest the diagnosis. 1
Exclusionary Tests: Chromosomal analysis and commercially available genetic tests for Noonan syndrome and Williams syndrome should be considered to rule out other conditions. 1Management
Surgical Intervention: Early surgical correction for significant valve defects (e.g., pulmonary valve stenosis, ventricular septal defect). 1
Multidisciplinary Care: Involvement of pediatric cardiologists, geneticists, and surgeons to manage complex presentations. 1
Supportive Care: Address extracardiac manifestations such as hypotonia and joint hypermobility with physical therapy and supportive measures. 1Special Populations
Pediatrics: Early diagnosis and intervention are crucial due to the congenital nature of the disease and associated extracardiac features. 1
Comorbidities: Consider genetic counseling due to potential familial implications and the identification of genetic mutations like TAB2. 1Key Recommendations
Utilize Whole Exome Sequencing for genetic diagnosis in cases with polyvalvular syndrome and suggestive extracardiac features. (Evidence: Moderate) 1
Perform surgical correction for significant valvular and septal defects to prevent long-term complications. (Evidence: Expert opinion) 1
Incorporate multidisciplinary care teams including geneticists and physical therapists to address both cardiac and extracardiac manifestations. (Evidence: Expert opinion) 1References
1 Ackerman JP, Smestad JA, Tester DJ, Qureshi MY, Crabb BA, Mendelsohn NJ et al.. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. Congenital heart disease 2016. link