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

Mariano Stabile; Anna F Rispoli; Maurizio Capuozzo; Umberto Ferbo; Guglielmo Stabile

doi:10.1002/ccr3.7602

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 Jul 2;11(7):e7602. doi: 10.1002/ccr3.7602. eCollection 2023 Jul.

Authors

Mariano Stabile¹, Anna F Rispoli¹, Maurizio Capuozzo², Umberto Ferbo³, Guglielmo Stabile⁴

Affiliations

¹ Zygote Center: Center for Genetics-Prenatal Diagnosis-Fertility Salerno Italy.
² Centro Direzionale di Napoli Innovalab Scarl Napoli Italy.
³ Istituto Diagnostico Varelli Napoli Italy.
⁴ Departments of Obstetrics and Gynecology IRCCS "Burlo Garofolo" Trieste Italy.

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.

Keywords: 16p12.2 microdeletion; bifid cardiac apex; multiple anomalies; prenatal ultrasound; spongiform cardiomyopathy.

Publication types

Case Reports