Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.

Abstract

Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature.

• Authors: Mana Taweevisit, Jitsupa Treetipsatit, Patou Tantbirojn, Paul Scott Thorner
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) Vol. 12 Issue 5 Pg. 404-9 ( 2009) ISSN: 1093-5266 [Print] United States
• PMID: 19358626 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Cor Triatriatum (complications, pathology)
• Dandy-Walker Syndrome (complications, pathology)
• Humans
• Hypoplastic Left Heart Syndrome (complications, pathology)
• Kidney Diseases, Cystic (complications, congenital, pathology)
• Male
• Polydactyly (complications)
• Syndrome