Bifid Cardiac Apex and Spongiform Cardiomyopathy in Fetus with Small Microdeletion 16p12.2 of Paternal Origin. Critical Points in Family Communication on 16p12.2 Microdeletion

Overview

Journal Clin Case Rep

Date 2023 Jul 5

PMID 37405046

Authors

Mariano Stabile

Anna F Rispoli

Maurizio Capuozzo

Umberto Ferbo

Guglielmo Stabile

Affiliations

Soon will be listed here.

Abstract

Key Clinical Message: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor.

Abstract: Prenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed.

Citing Articles

Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion.

Stabile M, Rispoli A, Capuozzo M, Ferbo U, Stabile G Clin Case Rep. 2023; 11(7):e7602.

PMID: 37405046 PMC: 10315447. DOI: 10.1002/ccr3.7602.

References

Firth H, Richards S, Bevan A, Clayton S, Corpas M, Rajan D . DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2009; 84(4):524-33. PMC: 2667985. DOI: 10.1016/j.ajhg.2009.03.010. View

Leung C, Engineer A, Kim M, Lu X, Feng Q . Myocardium-Specific Deletion of Rac1 Causes Ventricular Noncompaction and Outflow Tract Defects. J Cardiovasc Dev Dis. 2021; 8(3). PMC: 8001666. DOI: 10.3390/jcdd8030029. View

Carlucci S, Stabile G, Sorrentino F, Nappi L, Botta G, Menato G . The singular case of multiple chorangioma syndrome in an IVF pregnancy. Analysis of the case and review of literature. Placenta. 2020; 103:120-123. DOI: 10.1016/j.placenta.2020.10.025. View

Stabile M, Rispoli A, Capuozzo M, Ferbo U, Stabile G . Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion. Clin Case Rep. 2023; 11(7):e7602. PMC: 10315447. DOI: 10.1002/ccr3.7602. View

DAlessandro L, Werner P, Xie H, Hakonarson H, White P, Goldmuntz E . The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis. 2013; 9(1):83-6. PMC: 4575124. DOI: 10.1111/chd.12097. View