Is genomic screening necessary for fetuses who suffer moderate to severe tricuspid regurgitation?: A case report.

Abstract

RATIONALE:

Tricuspid regurgitation (TR) is a frequent finding during echocardiography screening in fetal or neonatal life, which reveals a weak association between TR and cardiac malformation. Except for structural abnormalities, dilated cardiomyopathy (DCM) ranks as the top reason for early child morbidity and mortality among all kinds of cardiomyopathy. In the early fetal stage, cardiac abnormalities detected by early fetal genetic testing followed by abnormalities on ultrasound would provide more valuable information for parents and physicians to make a better therapeutic schedule.

PATIENT CONCERNS:

A case of severe TR was found via the fetal ultrasound screening. After birth, this child suffered severe heart dysfunction, and echocardiography confirmed a DCM phenotype within a very short time.

DIAGNOSIS AND INTERVENTION:

A 40-year-old female received routine fetal echocardiographic screening, which demonstrated that the fetus presented severe TR. Six months after birth, the baby experienced severe heart failure, as the EF dropped to 22% with an extremely large LV chamber. The genomic sequence had been determined, and 3 pathogenic gene mutations located in 2 genes, cardiac troponin T (TNNT2) c.548G>A, desmoplakin (DSP) c.3146C>T, and DSP c.5213G>A, were identified. Finally, the patient was diagnosed with DCM. This child received digoxin, hydrochlorothiazide, spironolactone diuresis, captopril, and L-carnitine, and the symptoms of heart failure had been controlled as the patient waited for heart transplantation.

OUTCOMES:

During the follow-up, the patient still suffered from poor heart function and an enlarged left ventricle. Concomitantly, the parents placed her on a waiting list for heart transplantation.

LESSONS:

Fetal TR is a common phenomenon, and many studies have indicated that isolated TR is not an appropriate predictor of chromosomal abnormalities or congenital heart defects. However, according to this case, it is urgent to recommend that the mother should take advantage of free fetal DNA analysis in a maternal blood sample to obtain further molecular evidence once fetal echocardiography reveals moderate to severe TR with any maternal high-risk factors for birth defects.

• Authors: Lei Liu, Xiaoqing Shi, Peng Yue, Xiaolan Zheng, Yimin Hua, Kaiyu Zhou, Yifei Li
• Journal: Medicine (Medicine (Baltimore)) Vol. 98 Issue 48 Pg. e17771 (Nov 2019) ISSN: 1536-5964 [Electronic] United States
• PMID: 31770195 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Female
• Heart Defects, Congenital (diagnosis, embryology, genetics)
• Heart Failure (diagnosis, embryology, genetics)
• Humans
• Infant, Newborn
• Maternal Serum Screening Tests (methods)
• Pregnancy
• Sequence Analysis, DNA (methods)
• Tricuspid Valve Insufficiency (diagnosis, embryology, genetics)
• Ultrasonography, Prenatal