Ectopia cordis: A rare congenital anomaly

Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis. Clin. Anat. 27:1193–1199, 2014. © 2014 Wiley Periodicals, Inc.     

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care

22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Under-diagnosis in adults is common and recognition of facial dysmorphic features can be affected by age and ethnicity. This study aims to determine the prevalence of undiagnosed 22q11.2DS in adult Chinese patients with conotruncal anomalies and to delineate their facial dysmorphisms and extra-cardiac manifestations. We recruited consecutively 156 patients with conotruncal anomalies in an adult congenital heart disease (CHD) clinic in Hong Kong and screened for 22q11.2DS using fluorescence-PCR and fluorescence in-situ hybridization. Assessment for dysmorphic features was performed by a cardiologist at initial screening and then by a clinical geneticist upon result disclosure. Clinical photographs were taken and childhood photographs collected. Eighteen patients (11.5%) were diagnosed with 22q11.2DS, translating into 1 previously unrecognized diagnosis of 22q11.2DS in every 10 adult patients with conotruncal anomalies. While dysmorphic features were detected by our clinical geneticist in all patients, only two-thirds were considered dysmorphic by our cardiologist upon first assessment. Evolution of facial dysmorphic features was noted with age. Extra-cardiac manifestations included velopharyngeal incompetence or cleft palate (44%), hypocalcemia (39%), neurodevelopmental anomalies (33%), thrombocytopenia (28%), psychiatric disorders (17%), epilepsy (17%) and hearing loss (17%). We conclude that under-diagnosis of 22q11.2DS in Chinese adults with conotruncal defects is common and facial dysmorphic features may not be reliably recognized in the setting of adult CHD clinic, referral for genetic evaluation and molecular testing for 22q11.2DS should be offered to patients with conotruncal defects.     

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one‐day‐old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post‐zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow‐up studies for presumed de novo and low‐level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations.     

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.     

Retroesophageal right subclavian artery with persistent ductus arteriosus

We report an adult male cadaver with persistence of the ductus arteriosus and a right retroesophageal artery. The retroesophageal artery was first appreciated as a retropharyngeal mass during the dissection of this area. Both the left and right vertebral arteries originated in normal fashion. The thoracic duct of our specimen drained into the junction of the left internal jugular and left subclavian veins. We believe this to be the first report of simultaneous right retroesophageal subclavian artery and patent ductus arteriosus. The anatomy and embryology of these two anomalies in the same specimen are discussed.     

Zika and pregnancy: A comprehensive review

Zika virus (ZIKV) infection is a well‐nurtured topic for healthcare personnel nowadays. Central nervous system involvement including microcephaly and ocular involvements has already been reported in neonates of affected pregnant ladies. In this article, we have discussed these effects on the newborns of ZIKV‐infected mothers. The proposed pathogenesis, modes of transmission of this infection from mothers to the fetuses, diagnosis of the cases and precaution for the pregnant ladies have also been discussed. We have gathered the recently available data on the risk of ZIKV for expectant mothers from PubMed, https://www.gov.uk/guidance/zika-virus as well as from centers for disease control and prevention websites.     

The infra-optic course of the anterior cerebral arteries: an anatomic case report

Although variations of the anterior part of the cerebral arterial circle of Willis are quite well known, though some anomalies are exceedingly rare. In a 61-year-old female individual, on both sides the precommunicating parts of the anterior cerebral artery were found to course inferiorly to the ipsilateral optic nerves. This anomaly was associated with an agenesis of a left posterior communicating artery. The anatomic features, the possible high prevalence of associated aneurysms of the anterior communicating artery complex as well as implications for surgical planning or endovascular treatment are outlined and embryologic considerations and discussed.     

Bilateral asymmetric deficiency of the pectoralis major muscle

We observed a rare, bilateral congenital deficiency of the pectoralis major muscle in a 72-year-old female cadaver in our gross anatomy dissection laboratory. The outward appearance of the anterior thoracic wall, which included well-developed breasts, revealed no obvious abnormalities. Upon dissection, the following features were observed: 1) on the left side, the sternal portion of the sternocostal head of the pectoralis major muscle was absent, the costal portion of the sternocostal head and the clavicular head were both well developed, a normal pectoralis minor was present, and the deltoid and subclavius muscles were not hypertrophied as is often the case when the pectoralis major muscle is deficient; 2) on the right side, the entire pectoralis major muscle was absent and the pectoralis minor, deltoid, and coracobrachialis muscles were infiltrated with connective tissue and fat; and 3) on both sides, the lateral pectoral nerves were absent and the medial pectoral nerves were present. The absence of the lateral pectoral nerves suggests that the deficiencies in the pectoralis major muscles are congenital malformations resulting from a developmental failure of the embryonic muscles rather than a sequel to polio or Poland's syndrome.     

洛阳地区2065例遗传咨询者细胞遗传学研究

目的 探讨染色体核型分析在优生遗传咨询中的意义。方法 对洛阳地区2065例遗传咨询者，取外周血淋巴细胞培养，常规割片G显带，进行染色体核型分析。结果 染色体核型正常1851例，发现异常核型214例，异常检出率为10.36％。异常核型涉及到三体型、单体型、罗伯逊易位、相互易位、不平衡重排等。异常核型中，不良孕产史为89例，智力低下91例，原发闭经14例，性征发育异常及其他为30例。结论 染色体核型分析对不良孕产史、智力低下、原发闭经、性征发育不良等疾病的诊断具有重要意义。对于明确染色体结构及数目异常者，应行产前诊断，避免患儿出生。