Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Jul 18;46(1):98.
doi: 10.1186/s13052-020-00865-w.

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

Silvia Amodeo  1 , Giuseppe Vitrano  1 , Melania Guardino  2 , Giuseppe Paci  1 , Fulvio Corselli  1 , Vincenzo Antona  3 , Giuseppe Barrano  4 , Monia Magliozzi  5 , Antonio Novelli  5 , Renato Venezia  1 , Giovanni Corsello  3
Affiliations
Case Reports

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

Silvia Amodeo et al. Ital J Pediatr. .

Abstract

Background: Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations.

Case presentation: We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations' identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements in Array-CGH test, while gene panel sequencing identified a new hemizygous variant of uncertain significance (c.887G > A; p.Arg296Gln) in the MED12 gene, located on the X chromosome and inherited from the healthy mother.

Conclusion: No other reports about the involvement of MED12 gene in syndromic conotruncal heart defects are actually available from the literature and the international genomic databases. This novel variant is a likely pathogenic variant of uncertain significance and it could broaden the spectrum of genes involved in the development of congenital heart diseases and the phenotypic range of MED12-related disorders.

Keywords: Case report; Congenital heart diseases; Conotruncal heart defects; Echocardiography; Facial dysmorphisms; MED12; Next generation sequencing.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Case 1 mid-trimester ultrasound scan. a single great artery that equal overrode a ventricular septal defect; b microretrognathia; c nuchal edema
Fig. 2
Fig. 2
Case 2 ultrasound finding. a first-trimester ultrasound scan shows microretrognathia; b three vessels and trachea view shows the communication between aorta and pulmonary artery (aorto-pulmonary window)
Fig. 3
Fig. 3
Autopsy findings.: a sandal gap from first case; b microretrognathia, small mouth and low-set ears from second case
See this image and copyright information in PMC

References

    1. Zhang M, Li FX, Liu XY, et al. TBX1 loss-of-function mutation contributes to congenital conotruncal defects. Exp Ther Med. 2018;15(1):447–453. - PMC - PubMed
    1. Volpe P, Paladini D, Marasini M, et al. Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases. Heart. 2003;89:1437–1441. doi: 10.1136/heart.89.12.1437. - DOI - PMC - PubMed
    1. Collett RW, Edwards JE. Persistent truncus arteriosus: a classification according to anatomic types. Surg Clin North Am. 1949;29:1245–1270. doi: 10.1016/S0039-6109(16)32803-1. - DOI - PubMed
    1. Yu S, Han J, Gao S, et al. The prenatal diagnosis of aortopulmonary window by fetal echocardiography. Echocardiography. 2018;35(11):1835–1840. doi: 10.1111/echo.14131. - DOI - PubMed
    1. Richardson JV, Doty DB, Rossi NP, et al. The spectrum of anomalies of aortopulmonary septation. J Thorac Cardiovasc Surg. 1979;78:21–27. doi: 10.1016/S0022-5223(19)38156-5. - DOI - PubMed

Publication types

Supplementary concepts