Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

2020 ◽  
Author(s):  
Hoang H. Nguyen ◽  
Krishna Kishore Umapathi ◽  
John W. Bokowski ◽  
Kelsey Hogan ◽  
Alexa Hart ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
Heart Defects ◽  
Left Lung ◽  
Rare Condition ◽  
Family Counseling ◽  
Pulmonary Artery Stenosis ◽  
Congenital Defects ◽  
Trisomy 16 ◽  
Lung Agenesis ◽  
Mosaic Trisomy

AbstractTrisomy 16 is the most common autosomal trisomy found in spontaneous abortions with mosaic versions seen in survivors. However, surviving children have multiple congenital defects and are at risk of growth and developmental delay. We report an additional case of mosaic trisomy 16 diagnosed by amniocentesis and confirmed after birth. Our patient is the first documented case of living mosaic trisomy 16 with the malformation constellation of lung agenesis, left pulmonary artery agenesis, congenital heart defects, and ipsilateral radial ray and limb abnormalities, expanding the phenotype of this rare condition. Additionally, this individual's unique combination of lung and cardiac defects caused morbidities that were challenging to manage and complicated family counseling as well.

Pulmonary hypertension and arterial changes in calves with a systemic-to-left pulmonary artery connection

1994 ◽  
Vol 77 (2) ◽  
pp. 867-875 ◽  
Author(s):  
J. W. Fasules ◽  
F. Tryka ◽  
C. W. Chipman ◽  
S. H. Van Devanter
Keyword(s):  
Pulmonary Artery ◽  
Structural Changes ◽  
Heart Defects ◽  
Left Lung ◽  
Left Pulmonary Artery ◽  
Pulmonary Vascular Disease ◽  
Vascular Changes ◽  
Small Vessels ◽  
Arteriolar Diameter ◽  
Increased Pressure

The pathogenic mechanisms by which increased pressure and flow lead to pulmonary vascular disease are poorly understood, especially in newborns. To study the pathophysiological correlations and timing of the development of structural changes in response to high flow in nonhypoxic neonates, a model of high pulmonary flow was developed in newborn calves by anastomosis of the isolated left pulmonary artery (LPA) to the aorta. LPA pressure and flow increased acutely. LPA pressure reached near-systemic levels by 10 wk, whereas LPA flow was maximally increased at 1 mo before decreasing in several calves. Right pulmonary arterial pressure remained normal, and ventricular hypertrophy did not develop. Morphometric evaluation of the left lung demonstrated decreased arteriolar diameter, increased medial thickness, muscularization of arterioles at the bronchoalveolar junction, luminal obliteration of small arteries, and dilation lesions. The LPA pressure and vascular changes were greater and developed over a shorter time period than did prior models of nonhypoxic flow-induced pulmonary vascular changes. Lesser degrees of decreased arteriolar diameter and muscularization of small vessels were seen in the right lung, indicating a difference in the vascular response to moderately increased flow vs. increased pressure and flow. Thus, calves with an isolated LPA-to-aortic anastomosis simulate the hemodynamic and pulmonary vascular changes seen in newborns with congenital heart defects. Such calves may serve as models to assess effects of mechanical stresses on a newborn's vasculature.

Chronic effects of pulmonary artery stenosis on hemodynamic and structural development of the lungs

2013 ◽  
Vol 304 (1) ◽  
pp. L17-L28 ◽  
Author(s):  
Hedi Razavi ◽  
Sarah E. Stewart ◽  
Chengpei Xu ◽  
Hirofumi Sawada ◽  
Shahrzad Y. Zarafshar ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
Lung Volume ◽  
Left Lung ◽  
Vascular Pathology ◽  
Pulmonary Artery Stenosis ◽  
Sham Operation ◽  
Structural Development ◽  
Sprague Dawley ◽  
Bronchial Arteries ◽  
Chronic Effects

Pulmonary artery (PA) stenosis is a difficult obstructive defect to manage since clinicians cannot know a priori which obstructions to treat and when. Prognosis of PA stenosis and its chronic effects on lung development are poorly understood. This study aimed to characterize the hemodynamic and structural effects of PA stenosis during development. Fourteen male Sprague-Dawley rats underwent left PA (LPA) banding at age 21 days, and 13 underwent sham operation. Hemodynamic and structural impacts were studied longitudinally at 20, 36, 52, 100, and 160 days. Chronic LPA banding resulted in a significant reduction in LPA flow ( P < 0.0001) and size of both proximal LPA ( P < 0.0001) and distal LPA ( P < 0.01), as well as a significant increase in flow and size of the right PA ( P < 0.05) throughout development. Flows and sizes adapted such that normal levels of wall shear were restored after banding. At 160 days, LPA banding resulted in a significant decrease in left lung volume and an increase in right lung volume but no significant differences in total lung volume. There was an elevation of proximal LPA pressure as well as right ventricular hypertrophy in the banded animals. The banded lung exhibited arterial disorganization, loss of vessels, and enlargement of its bronchial arteries, whereas the contralateral lung showed signs of vascular pathology. There are consequences on development of both lungs in the presence of an LPA stenosis at young age. These results suggest that early intervention may be necessary to optimize left lung growth and minimize right lung vascular pathology.

The clinic pattern of pulmonary artery vasoconstriction in children (morbus coelius)

1927 ◽  
Vol 23 (10) ◽  
pp. 1041-1045
Author(s):  
B. M. Deich
Keyword(s):  
Pulmonary Artery ◽  
Birth Defects ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pulmonary Artery Stenosis ◽  
Septal Defects ◽  
Nosological Entity ◽  
Simultaneous Existence ◽  
Large Vessels

"Blue disease" is not a separate nosological entity, but represents a certain syndrome accompanying congenital heart defects. Despite the fact that this disease has long been known, nevertheless, its pathogenesis has not yet been definitively established. The former authors explained various individual forms of cardiac birth defects by this syndrome, but now it has been established that "blue disease" is a collective concept and occurs, according to Barye, in septal defects and anomalies of large vessels, and according to Fallop, in simultaneous existence of pulmonary artery stenosis and non-cavitary septum as well as in non-cavitary ductus botalus.

scholarly journals Williams-Beuren's Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Hassan Zamani ◽  
Kazem Babazadeh ◽  
Saeid Fattahi ◽  
Farzad Mokhtari-Esbuie
Keyword(s):  
Aortic Stenosis ◽  
Pulmonary Artery ◽  
Williams Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cognitive Disorder ◽  
Artery Stenosis ◽  
Cervical Region ◽  
Pulmonary Artery Stenosis ◽  
Heart Murmur

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome.Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis

2009 ◽  
Vol 37 (2) ◽  
pp. 107-111 ◽  
Author(s):  
Nobuhiro Hidaka ◽  
Nari Yamamoto ◽  
Kiyomi Tsukimori ◽  
Satoshi Hojo ◽  
Satoshi O. Suzuki ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pulmonary Artery ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Trisomy 16

Retrospective analysis of co-occurrence of congenital aortic stenosis and pulmonary artery stenosis in dogs

2015 ◽  
Vol 18 (4) ◽  
pp. 841-845 ◽  
Author(s):  
M. Kander ◽  
U. Pasławska ◽  
M. Staszczyk ◽  
A. Cepiel ◽  
R. Pasławski ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Pulmonary Artery ◽  
Retrospective Analysis ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Congenital Defects ◽  
German Shepherd ◽  
Congenital Aortic Stenosis ◽  
Complex Defect ◽  
Valvular Stenosis

Abstract The study has focused on the retrospective analysis of cases of coexisting congenital aortic stenosis (AS) and pulmonary artery stenosis (PS) in dogs. The research included 5463 dogs which were referred for cardiological examination (including clinical examination, ECG and echocardiography) between 2004 and 2014. Aortic stenosis and PS stenosis were detected in 31 dogs. This complex defect was the most commonly diagnosed in Boxers – 7 dogs, other breeds were represented by: 4 cross-breed dogs, 2 Bichon Maltais, 3 Miniature Pinschers, 2 Bernese Mountain Dogs, 2 French Bulldogs, and individuals of following breeds: Bichon Frise, Bull Terrier, Czech Wolfdog, German Shepherd, Hairless Chinese Crested Dog, Miniature Schnauzer, Pug, Rottweiler, Samoyed, West Highland White Terrier and Yorkshire Terrier. In all the dogs, the murmurs could be heard, graded from 2 to 5 (on a scale of 1-6). Besides, in 9 cases other congenital defects were diagnosed: patent ductus arteriosus, mitral valve dysplasia, pulmonary or aortic valve regurgitation, tricuspid valve dysplasia, ventricular or atrial septal defect. The majority of the dogs suffered from pulmonary valvular stenosis (1 dog had supravalvular pulmonary artery stenosis) and subvalvular aortic stenosis (2 dogs had valvular aortic stenosis). Conclusions and clinical relevance – co-occurrence of AS and PS is the most common complex congenital heart defect. Boxer breed was predisposed to this complex defect. It was found that coexisting AS and PS is more common in male dogs and the degree of PS and AS was mostly similar.

scholarly journals Coronary Artery Fistula Unmasking the Absence of Left Pulmonary Artery in an Adult

2020 ◽  
Vol 09 (01) ◽  
pp. e9-e10 ◽  
Author(s):  
Holger H. Sigusch ◽  
Andreas Hansch ◽  
Torsten Doenst
Keyword(s):  
Coronary Artery ◽  
Coronary Angiography ◽  
Pulmonary Artery ◽  
Incidental Finding ◽  
Correct Diagnosis ◽  
Left Lung ◽  
Rare Condition ◽  
Coronary Artery Fistula ◽  
Left Pulmonary Artery ◽  
Circumflex Artery

AbstractCoronary artery fistulae are an incidental finding in patients undergoing coronary angiography or computed tomography (CT) coronary angiography. A 60-year-old man with known coronary artery disease presented with dyspnea. Coronary angiography revealed a large fistula arising from the circumflex artery (CX) without a clear intrathoracic target vessel or chamber in the heart. CT angiography revealed the agenesis of the left pulmonary artery. The fistula arising from the CX ensured left lung tissue supply. Unilateral absence of a pulmonary artery is an extremely rare condition. In this case, the identification of a fistula from the heart triggered the correct diagnosis.

scholarly journals Rare combination of aortopulmonary septal defect with other heart defects

2001 ◽  
Vol 82 (6) ◽  
pp. 457-458
Author(s):  
V. A. Lukanikhin ◽  
G. I. Kharitonov ◽  
N. G. Shigabutdinova ◽  
B. A. Ostroumov
Keyword(s):  
Pulmonary Artery ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Ascending Aorta ◽  
Pulmonary Artery Stenosis ◽  
Patent Ductus

Defects between the ascending aorta and the pulmonary artery are among the rare congenital heart defects (CHD), occurring at a rate of 0.27%. In 10-15% of cases this CHD is combined with patent ductus arteriosus (PDP), coarctation of the aorta. Single cases of its combination with pulmonary artery stenosis have been described in the literature. We present a case of successful correction of aortopulmonary septal defect (ASD) combined with PDP and stenosis of the bicuspid pulmonary valve.

Unintended Pulmonary Artery Ligation during PDA Ligation

2016 ◽  
Vol 19 (4) ◽  
pp. 187 ◽  
Author(s):  
Dohun Kim ◽  
Si-Wook Kim ◽  
Hong-Ju Shin ◽  
Jong-Myeon Hong ◽  
Ji Hyuk Lee ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
Ductus Arteriosus ◽  
Left Lung ◽  
Left Pulmonary Artery ◽  
Chest Ct ◽  
Mechanical Ventilator ◽  
Artery Ligation ◽  
Ventilator Support ◽  
Surgical Ligation ◽  
Emergent Operation

A 10-day-old boy was transferred to our hospital due to tachypnea. Patent ductus arteriosus (PDA), 4.8 mm in diameter, with small ASD was diagnosed on echocardiography. Surgical ligation of the ductus was performed after failure of three cycles of ibuprofen. However, the ductus remained open on routine postoperative echocardiography on the second postoperative day, and chest CT revealed inadvertent ligation of the left pulmonary artery (LPA) rather than the PDA. Emergent operation successfully reopened the clipped LPA and ligated the ductus on the same (second postoperative) day.<br />Mechanical ventilator support was weaned on postoperative day 21, and the baby was discharged on postoperative day 47 with a normal left lung shadow.

Sign in / Sign up

Export Citation Format

Share Document