Congenital chest Flashcards
Pumonary hypoplasia
Reduced thoracic circumference
Fetal lung: head ratio <1
Associations include:
- Fryns syndrome
- Meckel Gruber syndrome
- Neu-Laxova syndrome
- Pena-Shokeir syndrome
Adults:
Swyer-James Syndrome
Poland syndrome
Scimitar syndrome
Jeune syndrome
Asphyxiating thoracic dysplasia
Long narrow thoracic cavity, cystic renal dysplasia, and characteristic skeletal features. It is also sometimes classified as one of the short rib polydactyly syndromes
Congenital diaphragmatic hernias
Most common: Left and posterior (Bochdaleck)
Rare: Morgagni (anterior)
Right: GBS Pneumonia
45% malrotation
Mortality: Pulmonary hypoplasia
Bronchogenic cyst
Most common foregut duplication cyst
Most commonly in mediastinal location
Extreme rare malignant conversion (pleuropulmonary blastoma, rhabdomyo, anaplastic, leyomio, adenoc)
Bronchogenic cyst
Most common foregut duplication cyst
Most commonly in mediastinal location
Extreme rare malignant conversion (pleuropulmonary blastoma, rhabdomyo, anaplastic, leyomio, adenoc)
Pulmonary sequestration
Aberrant formation of segmental lung tissue that has no connection with the bronchial tree or pulmonary arteries. It is a bronchopulmonary foregut malformation (BPFM).
Extralobar pulmonary sequestration
Pleural surface (low chance of infection), draining to systemic veins, associated with congenital anomalies, presents during infancy, predominantly in the left lower lobe, however 10% subdiaphragmatic.
Intralobar pulmonary sequestration
Most common pulmonary sequestration (75%)
No pleural surface (young patient with recurrent “pneumonia”), no congenital anomalies, draining to the pulmonary veins.
Draining via the pulmonary veins but can occur through the azygos-hemiazygos system, portal vein, right atrium or inferior vena cava
Cogenital lobar emphysema (overinflation)
Males
Aberrant left pulmonary artery
ASD, VSD, ToF
LUL: Most common
Congenital cystic adenomatoid malformation (CPAM)
Congenital pulmonary airway malformation
Lung malignancy:
~10% of pediatric lung cancers have a history of CPAM
bronchoalveolar carcinoma associated with type 1 CPAM
pleuropulmonary blastoma associated with type 4 CPAM
Normal second trimester ultrasound + new lung mass
Primary lung tumor
Pleuropulmonary blastoma
Most common lung malignancy in children
Classified under sarcomatoid carcinomas of the lungs
Solid: worse
Cystic: better (type 1, similar to CPAM 1/4).
CPAM 4 is associated with PPB
0-2 years of age.
DICER 1
Multilocular cystic nephroma, rarely Wilms.
Inflammatory myofibroblastic tumor (IMT)
Most common benign tumor in chidren
UVC
Left portal vein>ductus venosum>left liver vein
UAC
T8-T10
L3-L5
Omphalocele is contraindications
Askin tumor
Ewing sarcoma of the chest wall
DICER 1 syndrome
Annual chest CT to age 18 years, biannual abdominal/pelvic US to age 40 years, annual brain MR to age 25 years, and annual history and physical exam emphasizing thyroid palpation
pleuropulmonary blastoma cystic nephroma rhabdomyosarcoma multinodular goiter ovarian Sertoli-Leydig cell tumor differentiated thyroid carcinoma pineoblastoma Wilms tumor chondromesenchymal hamartoma pituitary blastoma
https://www.researchgate.net/publication/336596856_Imaging_of_DICER1_syndrome
Pediatric cystic nephroma (multilocular cystic nephroma)
Genetic analysis shows a high prevalence (86%) of DICER1 gene mutations in pediatric cases, as compared to ~10% of adult cystic nephroma.
Differential diagnosis:
- Cystic partially differentiated nephroblastoma: Impossible to differentiate by imaging alone similar age-group no DICER 1 mutation
- Cystic Wilms tumor from pediatric cystic nephroma: solid nodular components in a tumor should arouse suspicion of Wilms tumor. Pediatric cystic nephroma tends to occur in younger children than Wilms tumors
- Multicystic dysplastic kidney (MCDK): Entire kidney is replaced by non-communicating cysts. Usually diagnosed prenatally or at birth, while multiloculated cystic renal tumors do not occur in the perinatal period. Enhanced compressed renal parenchyma is seen to surround cystic nephroma on contrast-enhanced cross-sectional studies, while this tissue is absent in MCDK
Swayer James syndrome
Postinfectious bronchiolitis
Diminutive hyperlucent lung
Poland syndrome
Pec major and minor
Hyperlucent lung
Ipsilateral syndactily
Differential diagnosis:
For hypoplastic breast/absent tissue on one side on mammography, consider:
- amazia: absence of breast parenchyma
- amastia: absence of breast tissue
can occur from an excision of a pre-puberal breast bud or from chest wall irradiation during childhood
Scimitar syndrome (hypogenetic lung syndrome)
PAPVR/Congenital venopulmonar syndrome
Left to right shunt
VV ECMO
Round pneumonia/neonatal peripheral atelectasia
Five years and 90% of patients who present with round pneumonia are younger than twelve.
Round pneumonia is uncommon after the age of eight because collateral airways tend to be well developed by this age
S pneumo> H i.
5% progress to lobar pneumonia
Recurrent respiratory papillomatosis
Langerhan cell histiocytosis-like
HPV-6 and 11 are most commonly implicated (90% total cases), although HPV-16, 18, 31, and 33 also implicated
HPV-11 is associated with more aggressive papillomatosis
HPV-16 and 18 are more associated with malignant transformation, although “low risk” sub-types (e.g. 6, 11) have also resulted in malignant degeneration
Acute chest syndrome
Leading cause of death in SCD
Cystic fibrosis
Absent vas deferens (infertility)
Finger in glove sign
Apical predominance bronchiectasis (cylindrical»>varicoid)
Finger in gloves (Mucus plugging)
Fatty replaced pancreas
Primary ciliary dyskinesis
Spermatic tail dont move (infertility in males).
Ovum is not taking by the fallopian tubes (subferitlity in females)
Apical bronchiectasis
50% of patients demonstrating situs inversus
Situs inversus
Situs inversus (totalis): Chest and abdominal aorta. Associated with IVC absence. Situs solitus: Chest aorta Situs ambiguus (heterotaxy): Indeterminate configuration.
“When situs solitus and situs inversus occur, the atrial situs always corresponds to the visceral situs. In situs ambiguus, the bronchial anatomy always corresponds to the atrial situs”.
- Most with dextrocardia (true mirror image)
Only 3-5% incidence of congenital heart disease (transposition of the great vessels).
- 80% have a right-sided aortic arch. - Situs inversus with levocardia (which is much rarer: 0.00005%) congenital heart disease is found in 95% of patients
When situs solitus and situs inversus occur, the atrial situs always corresponds to the visceral situs.
Right atrial situs
Crista terminalis: it is a smooth thickened muscular structure which represents junction between sinus venosus and developing heart
Right atrial appendages: triangular or pyramidal shaped and broad-based; it contains pectinate muscles extending towards the atrioventricular valve-
Left atrium situs
Crista terminalis: absent in left atrium
Left atrial appendages: long slender finger-like; contains pectinate muscles
Coronary sinus always runs inferoposteriorly to the left atrium
Situs ambigous (heterotaxy)
Right isomerism: Cyanotic congenital cardiac anomalies
Left isomerism: Less complex congenital heart disease
Intestinal malrotation and midgut volvulus
Bronchial anatomy accurately reflects atrial situs. hyparterial bronchus (below artery): supplies the bilobed left lung
eparterial bronchus (alongside the artery): supplies the trilobed right lung
Left isomerism
Known as polysplenia syndrome:
multiple splenules without a parent spleen
azygos or hemiazygos continuation of the inferior vena cava
bilateral hyparterial bronchi
bilateral bilobed lungs
bilateral pulmonary/left atria
midline/transverse liver
intestinal malrotation
Right isomerism
Asplenia syndrome (Ivemark syndrome)
Cyanotic congenital heart disease
Duplicated SVC
Absent coronary sinus
Patients die before 1-year-old because of severe/complex congenital heart disease.
Most patients are immunocompromised due to absent spleen.
