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A letter to the editor is presented in response to the article "Germ-line and Somatic Mutations of the APC Gene and/or β Catenin Gene in the Occurrence of FAP Associated Thyroid Carcinoma," by Uchino in the previous issue.

Purpose: Patients with Ebstein anomaly (EA) have a variety of clinical manifestation. The assessment of structural and geometric characteristics of the heart is important for optimal management., Methods: We retrospectively analyzed echocardiography database from 2009 to 2020. We evaluate patients in two groups: patients with EA were in Group 1 and children without cardiovascular pathology were in Group 2. All children in both groups underwent echocardiography according to American Society of Echocardiography recommendations. The shape of the heart chambers and their function were studied in both groups., Results: There were 153 in Group 1 and 2000 children without cardiovascular disease in Group 2. It was shown that in children with EA, the shape of the ventricle became less spherical, which was accompanied by a decrease in myocardial mass, and the ejection fraction was reduced 34% of patients. The functional volume (non-atrialized part) of the right ventricle in patients with EA was reduced, and its contractility was preserved in 62% of cases. Preservation of the contractile properties of the right ventricle in most cases was associated with higher systolic pressure in its cavity., Conclusion: TAPSE, TESV, and the velocity of the annulus fibrous ring movement according to tissue dopplerography in patients with EA do not allow us to assess the contractility of the right ventricle. The myocardial performance index (MPI) characterizes a decrease in the functional volume of the right ventricle., (© 2022 Wiley Periodicals LLC.)

Background: Persistence or recurrence of stenosis is a complication of initial coarctation repair. This study aims to report short-term outcomes of surgical management of recurrent coarctation and initial repair analysis., Methods: We retrospectively reviewed our experience with 51 patients undergoing recoarctation surgical repair between 2008 and 2019 using antegrade cerebral perfusion (ACP) technique., Results: Surgical correction included prosthetic patch aortoplasty in 23 (45%), resection with wide end-to-end anastomosis in 15 (29%), and a tube interposition graft in 13 (25%) patients. The median age at initial correction and reintervention was 12 months and 9 years. The median interval from primary repair to reintervention was 60 months. Initial repair analysis revealed 33% of patients had initial correction in the neonatal period, 72.5% of patients were done via a left thoracotomy approach and 63% of patients had end-to-end anastomosis at initial surgery., Conclusion: Our study demonstrates that surgical repair of recurrent coarctation of the aorta using ACP technique can be performed safely and with excellent results., (© 2022 Wiley Periodicals LLC.)

The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death. Microspherophakia has not been reported previously in geleophysic dysplasia. Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. We studied a 35-year-old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease, restrictive pulmonary disease, and microspherophakia. Sequencing of ADAMTSL2 demonstrated two changes: IVS8-2A>G consistent with a disease-causing mutation, and IVS14-7G>A with potential to generate a new splice acceptor site and result in aberrant mRNA processing. The unaffected mother carries only the IVS8-2A>G transition providing evidence that the two changes are in trans-configuration in our patient., (© 2013 Wiley Periodicals, Inc.)

Objective: Assessment of ventricular function in the fetus has been limited for many reasons, including relative cardiac size and atypical orientation of fetal cardiac structures. A myocardial performance index (MPI) has been described in adult and pediatric populations as an echocardiographic measure of global (systolic and diastolic) ventricular performance. Because the MPI is a Doppler index, it is independent of ventricular geometry and can be applied to both left and right ventricular function. This study attempts to define the MPI in a group of normal fetuses and compare these data to other published studies of this index., Study Design: The right ventricular (RV) and left ventricular (LV) MPI were measured in 125 normal fetuses (20--40 weeks gestation, mean age 28 weeks). These fetuses were divided into five gestational age groups for comparison. These data were compared to 152 normal children (age 3--18 years, mean age 9.3 years)., Results: In normal fetuses, the LV MPI was 0.36 +/- 0.06 and the RV MPI was 0.35 +/- 0.05. This was not statistically different from the group of normal children in whom the LV MPI was 0.35 +/- 0.03 and the RV MPI was 0.32 +/- 0.03. In addition, no significant change in the fetal MPI was seen with advancing gestational age., Conclusion: This study demonstrates that fetal ventricular function can be quantitatively measured with the MPI. The MPI provides an easily obtainable and reproducible measure of fetal ventricular performance that can be readily incorporated into all fetal echocardiographic examinations.