Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.
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.
Department of Pathology, Faculty of Medicine, Chulalongkorn University, 1873 King Rama IV Street, Pathumwan, Bangkok, Thailand. dr.mana4@gmail.com
Mana
M
Taweevisit
Jitsupa
J
Treetipsatit
Patou
P
Tantbirojn
Paul Scott
PS
Thorner
D000015:Abnormalities, Multiple / Q000473:pathology*; D003310:Cor Triatriatum / Q000150:complications* / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000473:pathology; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000150:complications* / Q000473:pathology*; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000151:congenital / Q000473:pathology; D008297:Male; D017689:Polydactyly / Q000150:complications; D013577:Syndrome