U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Alveolar capillary dysplasia with pulmonary venous misalignment

MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Synonyms: Alveolar capillary dysplasia with misalignment of pulmonary veins; ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES; Congenital alveolar capillary dysplasia
SNOMED CT: Alveolar capillary dysplasia with pulmonary venous misalignment (447275002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FOXF1 (16q24.1)
 
Monarch Initiative: MONDO:0009934
OMIM®: 265380
Orphanet: ORPHA210122

Definition

Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004). [from OMIM]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Dilatation of the renal pelvis
MedGen UID:
574571
Concept ID:
C0341676
Disease or Syndrome
The presence of dilatation of the renal pelvis.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Dilatation of the bladder
MedGen UID:
488918
Concept ID:
C0549253
Finding
The presence of a dilated urinary bladder.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Pulmonary valve insufficiency
MedGen UID:
11031
Concept ID:
C0034088
Pathologic Function
The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Aortic arch interruption
MedGen UID:
57773
Concept ID:
C0152419
Congenital Abnormality
Non-continuity of the arch of aorta with an atretic point or absent segment.
Partial anomalous pulmonary venous return
MedGen UID:
450995
Concept ID:
C0158634
Congenital Abnormality
A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
Right ventricular hypertrophy
MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Pulmonary artery stenosis
MedGen UID:
65965
Concept ID:
C0238397
Anatomical Abnormality
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Pulmonary valve atresia
MedGen UID:
116684
Concept ID:
C0242855
Disease or Syndrome
A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.
Hypoplastic aortic arch
MedGen UID:
507001
Concept ID:
C0265881
Congenital Abnormality
Underdevelopment of the arch of aorta.
Persistent left superior vena cava
MedGen UID:
75586
Concept ID:
C0265931
Congenital Abnormality
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
Pulmonary artery dilatation
MedGen UID:
140900
Concept ID:
C0428851
Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Right-to-left shunt
MedGen UID:
98446
Concept ID:
C0428871
Finding
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
Parachute mitral valve
MedGen UID:
488916
Concept ID:
C0546965
Congenital Abnormality
Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Dysplastic tricuspid valve
MedGen UID:
901243
Concept ID:
C4255215
Congenital Abnormality
A congenital malformation of the tricuspid valve characterized by leaflet deformation.
Misalignment of the pulmonary veins
MedGen UID:
1739709
Concept ID:
C5421670
Anatomical Abnormality
The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Esophageal atresia
MedGen UID:
4545
Concept ID:
C0014850
Congenital Abnormality
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Meckel diverticulum
MedGen UID:
9917
Concept ID:
C0025037
Congenital Abnormality
Meckel's diverticulum is a congenital diverticulum located in the distal ileum.
Annular pancreas
MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Duodenal atresia
MedGen UID:
75602
Concept ID:
C0266174
Congenital Abnormality
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Congenital shortened small intestine
MedGen UID:
927596
Concept ID:
C4293687
Congenital Abnormality
Substantially shortened length of the small intestine as a result of a developmental defect.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Syringomyelia
MedGen UID:
21449
Concept ID:
C0039144
Disease or Syndrome
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Choroid plexus cyst
MedGen UID:
87376
Concept ID:
C0338597
Finding
A cyst occurring within the choroid plexus within a cerebral ventricle.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Disease or Syndrome
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Posterior rib fusion
MedGen UID:
330764
Concept ID:
C1842084
Finding
Complete or partial merging of the posterior part of adjacent ribs.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
A developmental defect in the formation of pulmonary lobes.
Alveolar capillary dysplasia
MedGen UID:
394267
Concept ID:
C2677362
Congenital Abnormality
A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
Asplenia
MedGen UID:
108652
Concept ID:
C0600031
Congenital Abnormality
Absence (aplasia) of the spleen.
Pulmonary lymphangiectasia
MedGen UID:
340882
Concept ID:
C1855480
Finding
Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft lip
MedGen UID:
1370297
Concept ID:
C4321245
Anatomical Abnormality
A gap in the lip or lips.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Single umbilical artery
MedGen UID:
278026
Concept ID:
C1384670
Congenital Abnormality
Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
Thickened nuchal skin fold
MedGen UID:
324644
Concept ID:
C1836940
Finding
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Onda T, Akimoto T, Hayasaka I, Ikeda M, Furuse Y, Ando A, Nakamura Y, Honjo R, Manabe A, Furuta I, Cho K
Early Hum Dev 2021 Apr;155:105323. Epub 2021 Jan 26 doi: 10.1016/j.earlhumdev.2021.105323. PMID: 33578219

Recent clinical studies

Etiology

Pradhan A, Che L, Ustiyan V, Reza AA, Pek NM, Zhang Y, Alber AB, Kalin TR, Wambach JA, Gu M, Kotton DN, Siefert ME, Ziady AG, Kalin TV, Kalinichenko VV
Am J Respir Crit Care Med 2023 Apr 15;207(8):1042-1054. doi: 10.1164/rccm.202207-1332OC. PMID: 36480964Free PMC Article
Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Alturkustani M, Li D, Byers JT, Szymanski L, Parham DM, Shi W, Wang LL
Cardiovasc Pathol 2021 Jan-Feb;50:107289. Epub 2020 Sep 16 doi: 10.1016/j.carpath.2020.107289. PMID: 32949727
Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P
Am J Respir Crit Care Med 2019 Nov 1;200(9):1093-1101. doi: 10.1164/rccm.201903-0495TR. PMID: 31189067Free PMC Article
Dishop MK
Paediatr Respir Rev 2011 Dec;12(4):230-7. Epub 2011 Mar 5 doi: 10.1016/j.prrv.2011.01.002. PMID: 22018036

Diagnosis

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Sun F, Wang G, Pradhan A, Xu K, Gomez-Arroyo J, Zhang Y, Kalin GT, Deng Z, Vagnozzi RJ, He H, Dunn AW, Wang Y, York AJ, Hegde RS, Woods JC, Kalin TV, Molkentin JD, Kalinichenko VV
Circulation 2021 Aug 17;144(7):539-555. Epub 2021 Jun 11 doi: 10.1161/CIRCULATIONAHA.121.053980. PMID: 34111939Free PMC Article
Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P
Am J Respir Crit Care Med 2019 Nov 1;200(9):1093-1101. doi: 10.1164/rccm.201903-0495TR. PMID: 31189067Free PMC Article
Bishop NB, Stankiewicz P, Steinhorn RH
Am J Respir Crit Care Med 2011 Jul 15;184(2):172-9. Epub 2011 Mar 11 doi: 10.1164/rccm.201010-1697CI. PMID: 21471096Free PMC Article
deMello DE
Semin Neonatol 2004 Aug;9(4):311-29. doi: 10.1016/j.siny.2003.12.001. PMID: 15251148

Therapy

Sun F, Wang G, Pradhan A, Xu K, Gomez-Arroyo J, Zhang Y, Kalin GT, Deng Z, Vagnozzi RJ, He H, Dunn AW, Wang Y, York AJ, Hegde RS, Woods JC, Kalin TV, Molkentin JD, Kalinichenko VV
Circulation 2021 Aug 17;144(7):539-555. Epub 2021 Jun 11 doi: 10.1161/CIRCULATIONAHA.121.053980. PMID: 34111939Free PMC Article
Nakajima D, Oda H, Mineura K, Goto T, Kato I, Baba S, Ikeda T, Chen-Yoshikawa TF, Date H
Am J Transplant 2020 Jun;20(6):1739-1743. Epub 2020 Jan 27 doi: 10.1111/ajt.15762. PMID: 31883304
Houmes RJ, Ten Kate CA, Wildschut ED, Verdijk RM, Wijnen RM, de Blaauw I, Tibboel D, van Heijst AF
J Pediatr Surg 2017 Mar;52(3):405-409. Epub 2016 Nov 14 doi: 10.1016/j.jpedsurg.2016.11.031. PMID: 27894766
Somaschini M, Bellan C, Chinaglia D, Riva S, Colombo A
J Perinatol 2000 Apr-May;20(3):189-92. doi: 10.1038/sj.jp.7200335. PMID: 10802846
Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E
J Pediatr 1994 Jan;124(1):125-8. doi: 10.1016/s0022-3476(94)70267-5. PMID: 8283361

Prognosis

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Onda T, Akimoto T, Hayasaka I, Ikeda M, Furuse Y, Ando A, Nakamura Y, Honjo R, Manabe A, Furuta I, Cho K
Early Hum Dev 2021 Apr;155:105323. Epub 2021 Jan 26 doi: 10.1016/j.earlhumdev.2021.105323. PMID: 33578219
Alturkustani M, Li D, Byers JT, Szymanski L, Parham DM, Shi W, Wang LL
Cardiovasc Pathol 2021 Jan-Feb;50:107289. Epub 2020 Sep 16 doi: 10.1016/j.carpath.2020.107289. PMID: 32949727
Arreo Del Val V, Avila-Alvarez A, Schteffer LR, Santos F, Deiros L, Del Cerro MJ
J Perinatol 2014 Oct;34(10):795-7. doi: 10.1038/jp.2014.94. PMID: 25263726
Dishop MK
Paediatr Respir Rev 2011 Dec;12(4):230-7. Epub 2011 Mar 5 doi: 10.1016/j.prrv.2011.01.002. PMID: 22018036

Clinical prediction guides

Karolak JA, Gambin T, Szafranski P, Maywald RL, Popek E, Heaney JD, Stankiewicz P
Respir Res 2021 Jul 27;22(1):212. doi: 10.1186/s12931-021-01797-7. PMID: 34315444Free PMC Article
Kitano A, Nakaguro M, Tomotaki S, Hanaoka S, Kawai M, Saito A, Hayakawa M, Takahashi Y, Kawasaki H, Yamada T, Ikeda M, Onda T, Cho K, Haga H, Nakazawa A, Minamiguchi S
Diagn Pathol 2020 May 9;15(1):48. doi: 10.1186/s13000-020-00972-6. PMID: 32386508Free PMC Article
Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P
Clin Epigenetics 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8. PMID: 30961659Free PMC Article
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P
Hum Genet 2016 May;135(5):569-586. Epub 2016 Apr 12 doi: 10.1007/s00439-016-1655-9. PMID: 27071622Free PMC Article
Melly L, Sebire NJ, Malone M, Nicholson AG
Histopathology 2008 Oct;53(4):450-7. doi: 10.1111/j.1365-2559.2008.03134.x. PMID: 18983610

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...