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.
Taweevisit
Mana
M
Department of Pathology, Faculty of Medicine, Chulalongkorn University, 1873 King Rama IV Street, Pathumwan, Bangkok, Thailand. dr.mana4@gmail.com
Treetipsatit
Jitsupa
J
Tantbirojn
Patou
P
Thorner
Paul Scott
PS
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