Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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+ Atlas of fetal pathology
+ Congenital malformations
+ Physiological developement of an embryo and fetus, growth and changes of the external shape
+ Congenital malformations and congenital anomalies
+ Basic terminology
+ Etiology of congenital anomalies (CA)
+ Environmental causes of congenital anomalies, congenital infections
+ Rubella
+ Cytomegalovirus
+ Syphilis
+ Toxoplasmosis
+ Diabetes mellitus (DM) and pregnancy
+ Diabetic embryopathy
+ Diabetic fetopathy
+ Genetic causes of congenital malformations
+ Chromosomal abnormalities
+ Down syndrome
+ Klinefelter syndrome
+ Turner syndrome
+ Patau syndrome
+ Edwards syndrome
+ Triploidy
+ Single gene disorders
+ Tuberous sclerosis
+ Miscellaneous malformation syndromes, sequences and associations, unclassified
+ Sirenomelia (Mermaid syndrome)
+ Hydrops fetalis
+ Immune hydrops (erythroblastosis fetalis, hemolytic disease of the newborn)
+ Nonimmune hydrops
+ Hygroma colli cysticum
+ Pierre-Robin sequence
+ Caudal regression syndrome (sacral agenesis)
+ VACTERL association
+ Pathology of twinning
+ Complications of monochorionic diamnionic placentation
+ Chronic twin transfusion syndrome
+ Acute twin-twin transfusion
+ Complications of monochorionic monoamnionic placentation
+ Congenital malformations in twins
+ Chorangiopagus parasiticus (acardius)
+ Pathology of higher multiple gestations: triplets
+ Monsters
+ Monstra duplicia
+ Gemini monochoriati inequales
+ Duplicitas symmetros
+ Asymmetric dual monsters
+ Monstra simplicia
+ Congenital malformations of individual organ systems
+ Congenital malformations of the central nervous system
+ Congenital malformations of the spinal cord
+ Spina bifida
+ Myeloschisis (rachischisis posterior)
+ Congenital malformations of the brain
+ Anencephaly
+ Iniencephaly
+ Encephalocele
+ Arnold-Chiari malformation
+ Disorders of formation of the structures derived from the mediobasal prosencephalon
+ Migration disorders
+ Destructive lesions of fetal brain (disruptions)
+ Porencephaly
+ Hydranencephaly
+ Hydrocephalus
+ Dandy-Walker malformation
+ Intracranial non-neoplastic cysts
+ Arachnoid cyst
+ Neuroepithelial cyst
+ Congenital malformations of the respiratory system
+ Congenital cystic adenomatoid malformation (CCAM)
+ Lobar sequestration
+ Congenital lobar emphysema
+ Pulmonary hyperplasia
+ Pulmonary hypoplasia
+ Congenital pulmonary lymphangiectasia
+ Diaphragm and congenital malformations
+ Congenital malformations of kidneys and efferent urinary tracts
+ Renal agenesis
+ Variations of shape and position of the kidneys
+ Renal cystic disease
+ Infantile polycystic kidneys (ARKPD)
+ Renal dysplasia
+ Adult polycystic kidneys (ADPKD)
+ Autosomal dominant polycystic kidney disease in infant and fetus
+ Lower urinary tract obstruction
+ Posterior urethral valves
+ Congenital tubular renal dysgenesis
+ Urinary bladder
+ Hypospadia
+ Congenital malformations of genital system and somatosexual congenital disorders
+ Somatosexual disorders
+ Somatosexual disorders with normal karyotype
+ Pseudohermaphroditism masculinus
+ Androgen insensitivity syndrome, testicular feminization syndrome, female XY
+ Pseudohermaphroditism femininus
+ Congenital adrenal hyperplasia
+ Somatosexual disorders with pathologic karyotype
+ Congenital malformations of female genitalia
+ Congenital malformations of the internal genitalia
+ Congenital malformations associated with congenital malformations of urinary system
+ Congenital malformations of the vulva
+ Congenital malformations of the male genital organs
+ Cryptorchidism
+ Congenital malformations of penis and scrotum
+ Smith-Lemli-Opitz syndrome (SLOS)
+ Congenital tumors
+ Sacrococcygeal teratoma
+ Congenital cardiac rhabdomyoma
+ Congenital heart defects
+ Defects of heart septum
+ Atrial septal defects
+ Ventricular septal defects
+ AV septal defects
+ Anomalies of the great arteries
+ Transposition of the great arteries
+ Truncus arteriosus
+ Double-outlet right ventricle
+ Malformations of the valves
+ Tricuspid atresia
+ Stenosis and atresia of the mitral valve, the hypoplastic left heart syndrome
+ Stenosis of the pulmonary artery
+ Pulmonary atresia with intact ventricular septum
+ Tetralogy of Fallot
+ Aortic stenosis
+ Malformations of the aortic arch system
+ Persistence of ductus arteriosus
+ Coarctation of the aorta
+ Interruption of the aortic arch
+ Right-sided aortic arch
+ Malformations of the venous system
+ Anomalies of situs and heart position
+ Di George syndrome
+ Congenital malformations of the gastrointestinal tract
+ Oral cavity and the palate
+ Cleft lip and palate
+ Congenital defects of the esophagus
+ Atresia
+ Congenital esophagus stenoses
+ Congenital malformations of the stomach
+ Congenital malformations of the intestines
+ Atresia
+ Malrotation of the intestine
+ Remnants of the omphalomesentric duct
+ Anorectal malformations
+ Duplicatures
+ Defects of the abdominal wall
+ Omphalocele
+ Gastroschisis
+ Limb-body wall complex
+ Pentalogy of Cantrell
+ Developemental anomalies of the skeleton
+ Defects of growth of tubular bone and/or spine
+ Thanatophoric dysplasia
+ Diastrophic dysplasia
+ Abnormalities of density of cortical diaphyseal structure or metaphyseal modeling
+ Osteogenesis imperfecta
+ Limb malformations
+ Terminal transverse limb defects
+ Radial ray defects
+ Finger anomalies
+ Club foot
+ Constriction (amniotic) band syndrome
+ Placental inflammation
+ Ascending infections
+ Placental inflammation, acute
+ Hematogenous infections
+ Fetomaternal listeriosis
+ Pathology of the fetal membranes
+ Amniotic band syndrome
+ Meconium staining
+ Candida infection of the placenta
+ Pathology of the placenta
+ Normal placenta
+ Extrauterine gravidity
+ Gestational trophoblastic disease (GTD)
+ Hydatidiform mole
+ Complete mole
+ Partial mole
+ Invasive mola (mole proliferans, mole destruens)
+ Gestational choriocarcinoma
+ Placental site trophoblastic tumor
+ Placenta and major chromosomal abnormalities
+ Hydropic placenta
+ Pathology of the umbilical cord
+ Abnormal length
+ Short cord
+ Long cord
+ Insertion abnormalities
+ Abnormal coiling
+ Umbilical vessels pathology
+ Umbilical cord accidents which compromise the blood flow
+ Thrombosis of umbilical blood vessels
+ Umbilical cord inflammation
+ Acute funisitis
+ Subacute necrotizing funisitis
+ Miscellaneous rare cord lesions
Congenital heart defects
Marta Ježová
Introduction

Congenital heart defects are congenital anomalies of the heart and big vessels. Prevalence is 6 – 8 for 1000 live-born children, but total occurence is higher.

Nowadays, these defects are mostly seen by fetal pathologist who autoptically examines spontaneous and induced abortions. Many of the heart defects are recognised and exactly diagnosed by the ultrasound screening during the 2nd trimester and are the reason for pregnancy termination between 20th – and 24th week. Suspicion for a congenital malformation can be already get at the ultrasound examination at the turn of the 1st and 2nd trimester (11th – 13th week).

Classification

Most frequent congenital heart defects:

  • isolated ventricular septal defect
  • isolated atrial septal defect
  • aortic and pulmonary stenosis
  • coarctation of the aorta
  • transposition of the great vessels
  • patent ductus arteriosus

Critical heart defects:

  • life threatening early after birth
  • demand urgent surgery
  • these are:
    • hypoplastic left heart
    • pulmonary atresia
    • transposition of the great vessels
    • tight coarctation of the aorta
    • interruption of the aortic arch
Etiology
  • Genetic: trisomy 21, 18, 13, Turner syndrome, Di George syndrome (microdeletion of the 22nd chromosome)
  • Enviromental: alcohol (fetal alcoholic syndrome), infection (German measles), mother's diseases (phenylketonuria at breaking the diet by the mother, poorly compensated diabetes mellitus).
  • In most cases the etiology isunknown, probably multifactorial.
Clinical signs
  • Cyanotic defects: cyanosis is caused by right-to-left shunt, e.g.transposition of the great vessels  — deoxygenated blood flows into the aorta
  • Noncyanotic defects: left-to-right shunt leads to increased pulmonary blood flow and pulmonary hypertension envolves gradually, e.g. the large defect of the ventricular septum. Eisenmengers complex is a complex of clinical symptoms in congenital heart defects with significant pulmonary hypertension. In the defects with initial left-to-right shunting the direction of the shunt gets reversed to right-to-left and late cyanosis appears. The patients are week, dyspnoic, often present with syncopas or hemoptysis, ictus, sudden death. Eisenmenger syndrome is irreversible. The prevention is early surgical therapy of congential heart defects prior to the developement of pulmonary arterial hypertension.
  • Defects with obstruction: left heart or right heart insufficiency (left heart insufficiency in coarctation of the aorta)
  • Heart failure in infants manifests by tiring with feeding, excessive sweating on the head, tachypnea
  • Failure to thrive
  • Murmurs, precordial whirl
  • Arythmias, changes in ECG
  • Increased risk of infective endocarditis
  • Hydrops fetalis is not a constant feature of cardiovascular malformations. It is seen in some cases of hypoplastic left heart syndrome, AV septal defects, hypoplastic right heart, prenatal closure of foramen ovale, Ebstein malformation

The clasification of congenital heart defects is possible from several points of view (functional, anatomical...). Following classification respects especially the anatomy of the heart defects. The defects may be either isolated or complex.

Defects of heart septum
Anomalies of the great arteries
Malformations of the valves
Malformations of the aortic arch system
Malformations of the venous system
Anomalies of situs and heart position
Di George syndrome