Birth of a healthy boy after PGD for X-linked heterotaxy syndrome

Bautista-Llácer, Rosa; Pardo-Belenguer, Merche; García-Mengual, Elena; Sánchez-Matamoros, C.; Raga, Empar; Calafell, Josep M.; Civico, Marco; Fábregues, Francisco; Vendrell, Xavier

doi:10.1007/s10815-014-0262-8

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Description Of Specific Congenital Heart Defects1

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2016

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“…These include autosomal dominant heterotaxy 64-67 , X-linked heterotaxy 68-70 and autosomal recessive heterotaxy in form of Kartagener syndrome (primary ciliary dyskinesia). 71-73 Genes associated with heterotaxy include ZIC3, CRYPTIC, NODAL , CFC1 , ACVR2B , LEFTY2 , CITED2 , and GDF1 .…”

Section: Description Of Specific Congenital Heart Defectsmentioning

confidence: 99%

Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists

Kloesel

DiNardo

Body

2016

Anesthesia &Amp; Analgesia

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Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this paper we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions.

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