Infantile Sandhoff disease with ventricular septal defect: a case report.
Jamal Khaled SahyouniLuma Bassam Mahmoud OdehFahad MullaSana JunaidSubhranshu Sekhar KarNaheel Mohammad Jumah Al Boot AlmarriPublished in: Journal of medical case reports (2022)
Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.