Absence Of Other Congenital Anomalies Research Articles

Long-Term Outcomes of Unrepaired Isolated Partial Anomalous Pulmonary Venous Connection With an Intact Atrial Septum

The natural history of an unrepaired isolated partial anomalous pulmonary venous connection(s) (PAPVC) and the absence of other congenital anomalies remains unclear. This study aimed to expand the understanding of the clinical outcomes in this population. Isolated PAPVC with an intact atrial septum is a relatively uncommon condition. There is the perception that patients with isolated PAPVC are usually asymptomatic, that the lesion generally has a limited hemodynamic impact, and that surgical repair is rarely justified. For this retrospective study, we reviewed our institutional database to identify patients with either 1 or 2 anomalous pulmonary veins that drain a portion of but not the complete ipsilateral lung. Patients with previous surgical cardiac repair, coexistence of other congenital cardiac anomalies that would result in either pretricuspid or post-tricuspid loading of the right ventricle (RV), or scimitar syndrome were excluded. We reviewed their clinical course over the follow-up period. We identified 53 patients; 41 with a single and 12 with 2 anomalous PAPVC. A total of 30 patients (57%) were men, with a mean age at the latest clinic visit of 47 ± 19years (18 to 84 years). Turner syndrome (6 of 53, 11.3%), bicuspid aortic valve (6 of 53, 11.3%), and coarctation of the aorta (5 of 53, 9.4%) were commonly associated anomalies. A single anomalous left upper lobe vein was the most commonly identified variation. More than half of the patients were asymptomatic. Cardiopulmonary exercise test demonstrated a maximal oxygen consumption of 73 ± 20% expected (36 to 120). Transthoracic echocardiography demonstrated a mean RV basal diameter of 4.4 ± 0.8cm, RV systolic pressure of 38 ± 13 (16 to 84) mm Hg. A total of 8 patients (14.8%) had ≥moderate tricuspid regurgitation. Cardiac magnetic resonance in 42 patients demonstrated a mean RV end-diastolic volume index of 122 ±3 0ml/m2 (66 to 188ml/m2), of which in 8 (14.8%), it was >150ml/m2. Magnetic resonance imaging-based Qp:Qs was 1.6 ± 0.3. A total of 5 patients (9.3%) had established pulmonary hypertension (mean pulmonary artery pressure ≥25mm Hg). In conclusion, isolated single or dual anomalous pulmonary venous connection is not necessarily a benign congenital anomaly because a proportion of patients develop pulmonary hypertension and/or RV dilation. Regular follow-up and on-going patient surveillance with cardiac imaging is advised.

Unilateral Ovarian Hypoplasia with Ipsilateral Fallopian Tube Hypoplasia

Herein, we present the case of a 36-year-old nulliparous woman with mild dysmenorrhea, diagnosed with a left endometrioma who underwent laparoscopic cystectomy. Laparoscopic findings confirmed an endometrioma with a normal fallopian tube in the left adnexa (Fig. 1a), and a hypoplastic ovary in the right adnexa (Fig. 1b). A balloon catheter was inserted into the uterus, and tube passage was verified using indigo carmine solution. The left fallopian tube was patent (Fig. 1c); however, the right fallopian tube was obstructed at the end of the fimbria (Fig. 1d). This was thus a rare case of unilateral ovarian hypoplasia with ipsilateral tubal hypoplasia, and we considered several theories to explain our findings. First, one theory to explain the etiology of congenital ovarian hypoplasia involves the loss of an ovary as a result of ischemia secondary to torsion of an ovarian pedicle with profound ovarian hypoxia, leading to cell death during fetal or early postnatal life [1, 2]; another theory is adnexal hypoplasia resulting from embryologic developmental agenesis or aplasia [3-5]. Second, embryologic theories of the etiology of unilateral adnexal agenesis and hypoplasia point to embryologic defects in the development of the genital ridge and the caudal end of the Müllerian (paramesonephric) duct [6, 7]. Failure of the Müllerian ducts to canalize is believed to result in failure of oviductal development, and Müllerian anomalies generally include combined ipsilateral uterine and renal-ureteric anomalies. The present case had only hypoplasia of the fallopian tubes, with the absence of other congenital anomalies of the reproductive organs or kidneys, making the hypothesis of an embryologic anomaly unlikely. Therefore, we postulated that the patient experienced torsion of the ovarian pedicle in the neonatal period or very early childhood.

Computed tomography assessment of hypodontia and crown size in hemifacial microsomia

ObjectiveOur aims were to assess the prevalence of hypodontia in unilateral hemifacial microsomia (HFM), and to compare tooth (crown) size between affected and unaffected sides. DesignIn a retrospective cross-sectional study of South Australians, computed tomography (CT) scans were used to assess hypodontia and crown size (mesiodistal length, buccolingual width and crown height). The inclusion criteria were the absence of other congenital anomalies and the availability of CT scans. The exclusion criteria were the lack of extraction history or reproducible landmarks for morphometric assessment. The final sample comprised 41 participants in both dentitions, including 32 children and 9 adults (median age 13.9 years, range 0.4 – 47.6 years; 19 males and 22 females). Hypodontia was assessed in all participants, and the permanent crown size in 30 (73.2%) participants. Linear mixed-effects models were performed to determine if crown size was significantly different between the two sides, controlling for sex, HFM severity, and tooth and jaw type. ResultsHypodontia occurred in none of the participants in the primary dentition, but in 6/30 (20%) participants in the permanent dentition (3/30 each on the affected and unaffected sides). There was no significant difference in the mean crown dimensions between the two sides, but the crown size was larger in males (p < 0.05), except for mesiodistal length, and became progressively smaller with increased HFM severity (p < 0.05). ConclusionsHypodontia spared the primary dentition but featured prominently in the permanent dentition. The permanent crown dimensions were unaltered between the two sides.

Large fetal congenital cystic adenomatoid malformations: growth trends and patient survival

Purpose The prognosis for fetuses with large congenital cystic adenomatoid malformations (CCAMs) remains uncertain. This study examined the natural history of large fetal CCAMs managed expectantly at a major referral center. Methods A 5-year retrospective review was conducted on fetuses diagnosed with a thoracic lesion (n = 59). Large CCAMs were identified on prenatal imaging and followed longitudinally. Perinatal outcomes were assessed. Results Twelve (20.3%) fetuses had large CCAMs in the absence of other congenital anomalies. Peak CCAM size occurred at 25.3 ± 3.6 weeks' gestation. Serial magnetic resonance volumetry demonstrated a trend toward decreasing CCAM mass volume relative to thoracic cavity volume over time. Overall, 6 patients, including 3 with signs of early hydrops, showed a marked regression of their lesions relative to estimated fetal weight. Five fetuses required an emergent intervention postnatally, including extracorporeal membrane oxygenation support (n = 1), cyst aspiration (n = 1), and lung resection (n = 5). Overall survival was 75%, with severe hydrops before 30 weeks seen in all 3 deaths. Conclusion Large fetal CCAMs tend to peak in size at 25 weeks' gestation and are characterized by in utero diminution relative to overall fetal growth. The prognosis for most fetuses with large CCAMs remains quite favorable under careful perinatal management.

Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions

This report describes a new variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differ from those found in patients with May-Hegglin anomaly, the Chediak-Higashi syndrome or individuals with septicaemia and toxic Döhle bodies in polymorphonuclear leukocytes (PMN). The PMN inclusions in the family described in this report are similar to those found in patients with the Fechtner syndrome, a variant of Alport's syndrome. However, other features of Alport's syndrome, including high frequency deafness, congenital cataracts, and chronic interstitial nephritis are absent in the members of the family described here. We have named this anomaly the Sebastian platelet syndrome. The macrothrombocytopenia and neutrophil inclusions observed in this family can occur in the absence of other congenital anomalies and therefore represent a unique syndrome.

CONGENITAL DILATATION OF THE PULMONARY ARTERIAL TREE

AS A single lesion, unaccompanied by other developmental anomalies, congenital dilatation of the pulmonary artery appears to be an extremely rare condition. For convenience, the occurrence of this solitary congenital malformation of the pulmonary artery will be referred to throughout the remainder of this paper as congenital dilatation of the pulmonary arterial tree. Several cases have been described, but many of these were reported on the basis of clinical diagnosis without pathologic reports, and others do not meet the criteria which I consider correct for isolated congenital dilatation. These criteria are (a) dilatation of the entire pulmonary arterial tree with or without sclerosis; (b) hypoplasia of the aorta; (c) the absence of other congenital anomalies, such as patent ductus arteriosus or patent interauricular septum, and (d) the absence of other primary disease of the heart or lungs and of primary arterial disease such as rheumatism or syphilis. When these criteria