Fetal Echocardiography Indications: A Single- Center Experience

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of referred pregnant women, which was conducted in Imam Reza hospital (Mashhad city, Iran) from 2012 to 2017. Relevant factors of referral to pediatric cardiologist were assessed in an unselected population of pregnant women, mostly based on guideline indications. Data were analyzed using SPSS software version 16.0. Results From 250 fetuses 59.8% were male. The most common reasons of referral were abnormal ultrasonography and family history of CHD with 83% and 28.8 %, respectively, which were referred mostly by gynecologist (53.7%). Fetuses were mostly singleton (98. 8%). Five and six percent had associated extra-cardiac anomalies, mostly central nervous system and renal disorders. The mean age of referred pregnant women was 31.5+5.14 years. The mean age of gestation was 24.5+ 6.09 weeks. Seventy-one cases (28.4 %) have similar history in prior children. Conclusion Timely referral to pediatric cardiologist as an extraordinary benefit for pregnant women and also ongoing follow- up for the baby is requires an organized observation. Assessment and comparison with universal guidelines reveals our shortcomings. More than half of referred cases were identified too late in time and the whole indications were not done accurately

Associated Congenital Heart Anomalies in Children with Cleft Lip and Palate: A Cross Sectional Study

Background: Cleft lip and palate has a frequency of 1 per 700 live births, making it among the most prevalent orofacial congenital anomalies of the craniofacial region. Congenital heart disease is the most commonly associated disease with oral cleft. Hence, we have reviewed the association between heart disease and cleft lip and/or palate in the pediatric population.Methods: In this cross-sectional study, the patients with oral clefts referring to the hospitals affiliated with the Mashhad University of Medical Sciences during 2015 to 2016 were evaluated. Demographic, clinical, and echocardiographic data were collected and analyzed statistically.Results: One hundred twenty two patients with cleft lip and/or palate underwent echocardiography (49.2% males, 50.8% females). Based on Z-score outcomes, most of the patients with scores above zero had isolated cleft palate (63.6%). Patients with Z-scores of 0 to -1.3 and lower than -1.3 mostly had both cleft lip and palate (61.3%) or isolated cleft palate (55.5%), and these differences were significant (p=0.010). Furthermore, the frequency of the patients with Z-scores lower than zero was significantly higher in cleft lip and palate cases with congenital heart disease compared to non-congenital heart disease cases (43 vs. 19; p=0.002). The patients with pathologic symptoms in the physical examination were mainly diagnosed as abnormal based on their echocardiography (71.2%), and those without these symptoms were mainly diagnosed as normal based on their echocardiography (59.2%) with significant differences (p=0.001).Conclusions: No significant difference was observed regarding the distribution of different types of congenital heart disease between the different types of cleft lip and/or palate

اختلال کمبود توجه بیش فعالی در بیماران مبتلا به بیماری قلبی مادرزادی

مقدمه: ناتوانی‌های عصبی رشدی، به‌ویژه اختلالات عملکرد اجرایی، در حال حاضر شایع‌ترین عوارض طولانی‌مدت در جمعیت مبتلا به بیماری‌های مادرزادی قلب (CHD) هستند. این مطالعه با هدف بررسی فراوانی اختلال نقص توجه و بیش فعالی (ADHD) در کودکان مبتلا به بیماری مادرزادی قلبی انجام شد.روش‌ کار: این مطالعه یک مطالعه همگروهی گذشته‌نگر بود که طی سال‌های 1381 تا 1397 بر روی بیماران مبتلا به CHD مراجعه‌کننده به کلینیک قلب کودکان بیمارستان امام رضا(ع) مشهد انجام شد. با استفاده از روش سرشماری، کلیه پرونده­های با تشخیص ADHD در مطالعه گنجانده شدند. تشخیص CHD به صورت بالینی و با استفاده از دستگاه اکوکاردیوگرافی توسط متخصص قلب کودکان با تجربه انجام شد. اطلاعات دموگرافیک، بالینی و پاراکلینیکی بیماران و نوع مداخله قلبی، جمع­آوری و مورد تحلیل قرار گرفت. داده­ها با نرم­افزار SPSS نسخه 16.5، آمار توصیفی و آزمون مجذور خی، تحلیل شدند.یافته‌ها: در این مطالعه 136 بیمار وارد مطالعه شدند. میانگین سنی شرکت­کنندگان در زمان تشخیص 84/45±12/59 ماه بود. الکتروانسفالوگرام غیرطبیعی (EEG) در سه مورد (2.2%) گزارش شد. بین نارس بودن و تاخیر رشد همبستگی معنی­داری وجود داشت (01/0P= ). میانگین سنی در بیماران مبتلا به اختلالات قلبی جزئی نسبت به افراد دارای اختلالات قلبی عمده، تفاوت معنی­داری داشت  (05/0> (P . شیوع ADHD در جمعیت CHD بالا بود (31.6%).نتیجه‌گیری: این مطالعه نشان داد که کودکانی که با بیماری‌های مادرزادی قلبی متولد می‌شوند در معرض افزایش خطر ابتلا به اختلال نقص توجه و بیش فعالی هستند

A human importin-\u3b2-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-β protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowledge of the cargoes of importin 8 is limited, but TGF-β signaling components such as SMAD1–4 have been suggested to be among them. Here, we report that bi-allelic loss-of-function variants in IPO8 cause a syndromic form of thoracic aortic aneurysm (TAA) with clinical overlap with Loeys-Dietz and Shprintzen-Goldberg syndromes. Seven individuals from six unrelated families showed a consistent phenotype with early-onset TAA, motor developmental delay, connective tissue findings, and craniofacial dysmorphic features. A C57BL/6N Ipo8 knockout mouse model recapitulates TAA development from 8–12 weeks onward in both sexes but most prominently shows ascending aorta dilatation with a propensity for dissection in males. Compliance assays suggest augmented passive stiffness of the ascending aorta in male Ipo8 mice throughout life. Immunohistological investigation of mutant aortic walls reveals elastic fiber disorganization and fragmentation along with a signature of increased TGF-β signaling, as evidenced by nuclear pSmad2 accumulation. RT-qPCR assays of the aortic wall in male Ipo8 mice demonstrate decreased Smad6/7 and increased Mmp2 and Ccn2 (Ctgf) expression, reinforcing a role for dysregulation of the TGF-β signaling pathway in TAA development. Because importin 8 is the most downstream TGF-β-related effector implicated in TAA pathogenesis so far, it offers opportunities for future mechanistic studies and represents a candidate drug target for TAA. −/− −/