Hypoplastic Left heart syndrome in a fetus who died with Marden-walker syndrome; a case report

Abstract Hypoplastic left heart syndrome accounts for 1.5% to 3.8% of all congenital heart diseases. By contrast Marden-Walker syndrome is a rare genetic disease typically characterized by atrial septal defect and ventricular septal defect. During a recent diagnostic autopsy, however, I found hypoplastic left heart syndrome associated with this syndrome in a patient representing a rare exception to this.Case presentation: The cadaver of a single male fetus who had been miscarried at 27 weeks of gestation was presented to my laboratory to undergo a diagnostic perinatal autopsy. The mother was a 26 years old woman and the father was a 33 years old man who were not consanguineous. The fetus’ head and neck were edematous. Pertinent positive signs were telecanthus, small nose, depressed nasal root, anteverted nostril, small jaw (asymmetric micrognathia), short upper eyelids, upper lip eversion, abnormal ear shape, low set ears, and excess neck skin folds. In the dissected thorax, there was a water bottle shaped heart with left sided hypoplasia. Conclusion: Deletions in 21q22 can be seen in both hypoplastic left heart syndrome and Marden-Walker syndrome. Although mutations in PIEZO2 have also been mentioned as a cause of the latter, this case report confirms the etiologic role of 21q22 deletion as a cause of left-sided cardiac hypoplasia.

کلیدواژه ها:

Hypoplastic left heart syndrome ، Marden-Walker syndrome