Fetus – ABC CARDIOL

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Editorial

My approach to the diagnosis and treatment of fetal tachycardias

Marcia Ferreira Alves Barberato

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Original Article

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound

Shiyu Luo et al. Dahua Meng Qifei Li Xuehua Hu … Yuhua Chen Chun He Bobo Xie Shangyang She Yingfeng Li Chunyun Fu

Abstract

Background:

Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established.

Objective:

To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors.

Methods:

A total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries.

Results:

Of the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain.

Conclusions:

Karyotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.

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Original Article

Effect of Fetal Hypothyroidism on Cardiac Myosin Heavy Chain Expression in Male Rats

Nasibeh Yousefzadeh et al. Sajad Jeddi Mohammad Reza Alipour

Abstract

Background:

Thyroid hormone deficiency during fetal life could affect the cardiac function in later life. The mechanism underlying this action in fetal hypothyroidism (FH) in rats has not been elucidated thus far.

Objective:

The aim of this study is to evaluation the effect of FH on cardiac function in male rats and to determine the contribution of α-myosin heavy chain (MHC) and β-MHC isoforms.

Methods:

Six pregnant female rats were randomly divided into two groups: The hypothyroid group received water containing 6-propyl-2-thiouracil during gestation and the controls consumed tap water. The offspring of the rats were tested in adulthood. Hearts from the FH and control rats were isolated and perfused with langendroff setup for measuring hemodynamic parameters; also, the heart mRNA expressions of α- MHC and β-MHC were measured by qPCR.

Results:

Baseline LVDP (74.0 ± 3.1 vs. 92.5 ± 3.2 mmHg, p < 0.05) and heart rate (217 ± 11 vs. 273 ± 6 beat/min, p < 0.05) were lower in the FH rats than controls. Also, these results showed the same significance in ±dp/dt. In the FH rats, β-MHC expression was higher (201%) and α- MHC expression was lower (47%) than control.

Conclusion:

Thyroid hormone deficiency during fetal life could attenuate normal cardiac functions in adult rats, an effect at least in part due to the increased expression of β-MHC to α- MHC ratio in the heart.

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Clinical Update

Noncompaction cardiomyopathy: a current view

Leonardo Vieira da Rosa et al. Vera Maria Cury Salemi Leonardo Machado Alexandre Charles Mady

Isolated non-compaction cardiomyopathy is a rare disease that is likely to develop in the embryonic period. It is caused by the intrauterine arrest of the myocardial compaction process in the beginning of the fetal development. It is characterized by prominent myocardial trabeculations and deep intertrabecular recesses, as well as the thickening of the myocardium into two distinct layers (compacted and not compacted). Even though this disease is said to be prevalent in the pediatric population or together with congenital heart disease, one can understand that this disease occurs in isolation, because the diagnosis is becoming more common in adult patients that have no other heart disease. The clinical manifestations vary greatly, because they range from absence of symptoms to congestive heart failure, arrhythmias and systemic thromboembolism. Echocardiography is the most widely used diagnostic procedure, but the little knowledge about this disease, its similarity to other myocardial diseases and the limitation of the echocardiographic technique used delay the diagnosis. The purpose of this review is to show that that other imaging techniques, such as MRI, CT and left ventriculography have emerged as diagnostic alternatives.

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Artigo Original

Study of the natural history of myocardial hypertrophy and its association with hyperinsulinism in infants of diabetic mothers

Paulo Zielinsky et al. Martha H. Leal da Costa Leandro Turra Oliveira Fernanda Paiva Bonow … Nilza Iracema Telles da Silva Lauro Luís Hagemann

PURPOSE: To test the hypothesis that myocardial hypertrophy is associated with increased serum insulin levels in children of diabetic mothers and to determine the frequency and timing of this spontaneous regression. METHODS: Seventy-two patients were studied (54 children of diabetic mothers and 18 controls). Diagnosis of myocardial hypertrophy was made by fetal echocardiography. Amniotic fluid insulin levels were obtained from a previous prenatal study on hypertrophic cardiomyopathy, since the participation of the mothers was common to both projects. RESULTS: There were 10 cases of myocardial hypertrophy among children of diabetic mothers (18.52%). Septal thickness was significantly different between the 2 groups (children of diabetic mothers and controls) in the evaluation performed at the age of 1 month (p=0.04). Insulin levels were still increased in children of diabetic mothers until the age of 3 months. During this period insulin levels were significantly higher than those of controls (p=0.003 and p=0.001, at 1 and 3 months, respectively). The association between regression of ventricular septum thickness and the decrease of insulin levels occurred up to the age of 1 month. CONCLUSION: There was spontaneous regression of ventricular septum thickness in children of diabetic mothers during the first 6 months of life. The association between hyperinsulinism and hypertrophic cardiomyopathy was present up to the first month of life.

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Original Article

Comparison between right and left ventricular myocardia during the human fetal period. Stereological evaluation

Ricardo Xavier-Vidal et al. Kalil Madi

PURPOSE: To develop a stereological comparison between right (RV) and left ventricle (LV) myocardium during the third human gestational trimester. METHODS: Five human fetal hearts of the third trimester provided representative samples of 5 RV myocardium and 4 LV myocardium. The material was fixed in 10% buffered formaldehyde, and processed through routine methods. Fifteen microscopic fields were randomly chosen and counted in each ventricular myocardium using an “M-42” test system. The following stereological parameters were assessed: Vv (%), Lv (µm²), Sv (µm²/µm³), Vp (µm³), Nv (1/mm³) and total N. RESULTS: No significant difference between the stereological parameters of the myocardial structures assessed was evidenced, when comparing RV and LV. CONCLUSION: Right and left human ventricular myocardium are very similar during the fetal period at least in regard to their structural aspects.

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