0 Transposition of the Great Arteries (TGA)

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Transposition of the Great Arteries (TGA)

Types :
  • Complete
  • With Communication
  • Corrected

1. Complete : has 2 circuits 
  • Oxygenated - Pulmonary circuit
  • Un-Oxygenated - Systemic circuit
Therefore O2 therapy will not help as there is no path for O2 to reach systemic circuit.
Hence the child dies without t/t in 1st wk of life due to Hypoxia

T/t - 
  • PGE1 infusion to keep Ductus open (i.e to keep PDA)
  • Emergency Surgery ( Create artificial ASD with balloon - Balloon atrial septostomy )
Definitive Surgery at later stage : Arterial Switch Surgery ( Jatene Procedure )


2. With Communication : 
  • With ASD - Small patent foramen ovale , Not helpful - hence cyanosis in 1st wk of life
  • With VSD and PDA - good mixing of blood , therefore only mild cyanosis at 6-12 months of life.



3. Corrected : Physiologically behaves Normal.

Ventriculo-Arterial disconcordance with Atrioventricular disconcordance (See the image below)
  • Ventriculo-Arterial disconcordance means - Aorta arise from RV ; PA arise from LV
  • AtrioVentricular dysconcordance means - Rt Arium opens into LV ; Lt Atrium opens into RV
Image Courtesy - DrAyushGoel


MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 Duct dependant heart defects

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Duct dependant heart defects

i.e - good with Patent ductus arteriosus but deteriorates with its closure

 Left Sided Lesions : (depend on ductus for systemic blood flow) 
  • Congenital AS
  • Coarctation of Aorta
  • Interrupted Aortic Arch
  • Hypoplastic Left heart syndrome
if ductus closes - Presents as Shock
Therefore give Prostaglandins infusion (PG E1)


 Severe Right Sided Lesion (Depend on ductus for pulmonary blood flow) 
i.e After birth - blood flow to lungs only if Ductus is open - if closes then Cyanosis. 
  • Critical PS
  • Tricuspid Atresia
  • Tetrology of fallot

 TGA i.e Aorta from right and pulmonary trunk from left 

Thus systemic circuit will have only unoxygenated blood
and Pulmonary circuit will have only oxygenated blood

thus it depends on Ductus for Oxygen.



Note : Truncus Arteriosus (i.e Pulm Art and Aorta are 1) is ductal independant.



MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

2 Chest X-Ray PA view - Cardiac Borders

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MCQ 117

Q. Which of the following, per se, does not form Left cardiac border on CXR PA view ?

a. Left atrium
b. Left Ventricle
c. Aortic arch/knob
d. Pulmonary trunk


ANSWER:
Ans : A

The cardiovascular silhouette , or cardiac shadow, is the contour of the heart and great vessels seen on chest radiographs.
Its right border is formed by the SVC, the right atrium, and the IVC. 
Its left border is formed by the aortic arch (which produces the aortic knob ), the pulmonary trunk, the left auricle, and the left ventricle. 
Its inferior border is formed by the right ventricle, and 
the left atrium shows no border.
Please note 
  1. Left auricle is Left atrial appendage which is a muscular pouch connected to left atrium.
  2. Silhouette sign is a misnomer, it should technically be " Loss of silhouette ".






MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 Medical One Liners 131 - 140

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131. Cat eye syndrome :
  • Partial trisomy of chromosome 22
  • Vertical oval pupil due to inferior iris coloboma
132. Single S2 in Tetrology of fallot.

133. All newborns have right ventricular hypertrophy and right axis deviation.

134. AA which have a pKa of 4 - aspartic acid and glutamic acid

135. Topoisomerase I (relaxase) 
  • makes ssDNA cuts, 
  • requires no ATP, 
  • relaxes supercoils, and 
  • acts as the swivel in front of the replication fork
136. 10 ATPs are generated per acetylCoA. (3NADH + 1FADH2 + 1GTP) {NADH = 2.5ATP; FADH2 = 1.5ATP}

137. Ketogenic AAs - Leucine and Lysine

138. Thiamine pyrophosphate (TPP) associated enzymes :
  • Alpha-ketoglutarate dehydrogenase
  • Pyruvate dehydrogenase
  • Transketolase
139. DNA replication occurs during S phase of the cell cycle.

140. Rise in conjugated (direct) bilirubin seen in Rotor syndrome and Dubin–Johnson syndrome.



MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 Patent Ductus Arteriosus

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Patent Ductus Arteriosus (PDA)


  • MC in Preterms 
  • Term baby with PDA - Think of Rubella

Clinical Features :
  1. Failure to thrive 
  2. Recurrent infections 
  3. Feeding difficulty 
  4. CHF at 6-10 wks

Examination :

  • Bounding Pulses
  • Wide pulse pressure
  • Continuous Machinery murmur at Left sternal border


Treatment : (MCQ)

  • In Preterms - NSAIDS (only till 1st month after birth)
  • In terms - Surgery ( Duct occluder , Insert coils )


Complications :

  • CHF at 6-10 wks
  • IE
  • Eisenmenger syndrome


PDA with eisenmenger syndrome - ( R to L shunt )

  • Differential cyanosis i.e only at toes (Not at fingers) (MCQ)




MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 Ventricular Septal Defect

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Ventricular Septal Defect ( VSD )

Most common Congenital heart disease. (15-20%)

MC type - Perimembranous (70%)

Comparing size of VSD with root of Aorta, it can be divided as :
Small
Medium
Large
<1/3 of root of Aorta

If < 3 mm ( de Roger’s defect )


In between Small and Large

>1/2 of root of Aorta
Loud Pansystolic Murmur at lower left sterna border

Absent or ejection systolic murmur

Asymptomatic

Symptoms : at 6-10wks
Failure to thrive
Recurrent infections
Feeding difficulty
CHF
1st chamber to enlarge is LA
Symptoms : at 6-10wks
Failure to thrive
Recurrent infections
Feeding difficulty
CHF
1st chamber to enlarge is LA



LVH (not right)

LVH (not right)



Delayed diastolic murmer at mitral apex. -> Large VSD




Complictions :

  1. MC - Infective endocarditis(IE) (VSD is also most common disease which has IE)
  2. CHF at 6-10 wks
  3. Eisenmenger's Syndrome


Treatment :

1. Initially Medical (3D)

  • Digitalis , diuretics , Dialators


2. Surgery if :

  • Medical treatment fail
  • Perimemberanous and Muscular VSD
  • Supracristal VSD (rare type)
  • Pulmonary/systemic blood flow >2 (MCQ)

NOTE : SURGERY CONTRAINDICATED IF EISENMENGER has developed.


Another Term to remember :
Swiss Cheese VSD = Multiple apical VSDs



MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 World Tuberculosis Day

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World Tuberculosis Day, falling on March 24 each year, is designed to build public awareness about the global epidemic of tuberculosis and efforts to eliminate the disease.
Official Website : Click here







0 World Down Syndrome Day

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World Down Syndrome Day (WDSD) is observed on 21 March. On this day, people with Down syndrome and those who live and work with them throughout the world organize and participate in activities and events to raise public awareness and create a single global voice for advocating for the rights, inclusion and well being of people with Down syndrome.
Official Website : Click here







0 Atrial Septal Defect (ASD)

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Atrial Septal Defect (ASD)


  • MC- Secundum (Center)
  • Primum (big on medial side)
  • Sinus Venosus (at insertion of SVC, IVC)

Seen in 
  • Down's Syndrome
  • Lutembacher's syndrome ( ASD + MS/MR)
  • Ellis van creveld syndrome ( ASD + Polydactyly)
  • Holt oram syndrome ( Autosomal Dominant )
Holt Oram Syndrome = Hand heart syndrome : 
  1. Familial ASD syndrome
  2. With - VSD , Primary heart block , Atrial fibrillation, Bony Abnormality ( Thumb - absent / rudimentary)
  3. Pleiotropy - Multiple effects due to defect in single gene ( here TBX5)
  4. Can have absent radius.

ASD Secundum :
1. Asymptomatic
2. S2 - Wide and fixed split
3. Grows up - Adult - 
  • CHF
  • Arrhythmias
  • Stroke
  • Eisenmenger syndrome

ECG : Right axis deviation.

Treatment : Closure at 3-5yrs age by Dacron Patch

ASD Primum :

1. Big cleft on the medial side
2. Also has MR (always)

  • Pansystolic at Apex
  • Radiate to axila and back
3. S2 - Wide and fixed split
4. It is severe ASD
        therefore
      Clinical features at 6 - 10 wks
  • Failure to thrive
  • Recurrent infections
  • Feeding difficulties
  • CHF
ECG : Left axis deviation.

Treatment : Early surgery.




MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 PaQ1c2v3 - Sequential Cardiac Cycle events

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Remember the important events like this

PaQ1c2v3

P , Q    - ECG waves
a , c , v - Juglar venous pressure waves
1 , 2 , 3 - Heart sounds







Image Source : http://en.wikipedia.org/wiki/File:Wiggers_Diagram.png


MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

0 Nadas Criteria

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Nadas criteria 

Presence of  1 major or 2 minor criteria indicate very high probability of a congenital heart disease.

Major

  • Systolic murmur grade 3 or more 
  • Diastolic murmur
  • Cyanosis ( Central )
  • Congestive heart failure

Minor
  • Systolic murmur less than grade 3 
  • Abnormal S2
  • Abnormal ECG
  • Abnormal chest X ray
  • Abnormal BP



0 Mitochondrial Inheritance

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Mitochondrial Inheritance

Maternal.

egs:

  • MERRF ( Myotonic epilepsy & Ragged red fibers )
  • MELAS ( Mitochondial enchephalopathy , Lactic acidosis & Stroke like episodes )
  • Leigh disease
  • LHON ( Leber's hereditary optic neuropathy )
  • KSS ( Kearn sayre syndrome )
  • NARP ( Neuropathy, ataxia, retinitis pigmentosa, and ptosis )





0 Anticipation

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In genetics, anticipation is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation. In most cases, an increase of severity of symptoms is also noted.

i.e with next generation
  • Age of presentation decreases
  • Severity of disorder increases.

eg : All trinucleotide repeat disorders
  1. Fragile X ( CGG repeat) { here this anticipation phenomenon is termed Sherman Paradox }
  2. Friedreich ataxia (GAA)
  3. Myotonic Dystrophy ( CTG )
  4. Spinobulbar Muscular Atrophy ( CAG)
  5. Huntington's (CAG)
  6. Spinocerebellar Ataxia (CAG/CTG)





0 Genomic Imprinting & Uniparental Disomy

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 Genomic Imprinting 

Differential expression based on parent of origin.

Deletion 15q (11-13)

  • If Paternal - Prader–Willi syndrome.
  • If Maternal - Angelman syndrome  

Prader-Willi Syndrome

  • Obesity
  • Hypotonia 
  • Small hands and feet
  • Mental retardation
  • Hypogonadism


Angelman = Happy puppet sundrome

  • Normal at birth
  • Seizures
  • Mental retardation
  • Ataxia
  • Microcephaly
  • Inappropriate Laugh



 Uniparental Disomy 
If both abnormal alleles from single parent.
egs:
1. Some cases of Cystic Fibrosis
2. Sickle cell anaemia
3. 10% cases of  Prader–Willi syndrome & Angelman syndrome
Note :
Paternal disomy - Angelman (unlike deletion)
Maternal disomy - Prader-Willi




0 Oculocerebrorenal syndrome = Lowe syndrome

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Oculocerebrorenal syndrome (also called Lowe syndrome)

X linked recessive (Therefore only in males)

Eyes : Congenital Glaucoma , Congenital Cataract

Brain : Microcephaly , Mental Retardation

Kidneys : Fancony Syndrome (Generalized Proximal Tubular dysfunction)


 Note : 
Noramlly in Proximal tubule -

  • Na , 
  • HCO3 , 
  • PO4 , 
  • Amino acids and 
  • Glucose 

are reabsorbed.




0 Mosaicism

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In genetics, a mosaic or mosaicism denotes the presence of two or more populations of cells with different genotypes in one individual who has developed from a single fertilized egg

Somatic Mosaicism - Not transmitted

Germline Mosaicism -

  • Transmitted
  • Parents Normal - Children affected (both male and female can be affected)


Negative point : Diagnosis is NOT with peripheral blood lymphocytes. (MCQ)

eg : Tuberous Sclerosis , Osteogenesis Imperfecta (can be)




0 Noonan vs Turner Syndrome

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Noonan Syndrome
Turner Syndrome

Normal Karyotype
 XO (60%)

MC heart sisease
1.      Valvular PS
2.      HOCM
MC heart disease
1.      Bicuspid Aortic Valve
2.      Coarctation of Aorta

Horse shoe kidney (5%)

25 % have Mental Retardation
Mental retardation Rare

GenitoUrinary :
Female – Fertile , delayed puberty
Male – Cryptorchidism , infertile
Infertile , streak ovaries

(No males)






0 Medical One Liners 121-130

Reactions: 


121. Various types of vasculitis produce aneurysms in many portions of the aorta and its branches, but Takayasu arteritis is the only type of aortitis that produces stenosis in the thoracic aorta.

(ref: Miller SM. Thoracic aortic diseases.)


122. Noonan Syndrome has Phenotype as that of Turner syndrome but Normal Karyotype (XX or XY).

123. Earliest disease for which enzyme supplementation / replacement therapy introduced - Gaucher's disease.

124. 1st disease for which Gene therapy introduced - SCID 

125. The dystrophin gene is the largest gene found in nature.

126. Down's syndrome in a baby of young mother is most commonly due to - Robertsonian translocation , not trisomy.

127. Maternal Lithium - Ebstein Anomaly - Box shaped heart.

128. Most common heart tumor - Atrial Myxomas

129. Umblical cord - 2 arteries 1 vein ( Right umblical vein disappears ).

130. The Pulmonary vascular resistance falls fairly rapid to reach Normal adult values by 2-3 wks in normal babies.
In VSD and PDA , it takes 6-10 wks.




0 Leukodystrophies

Reactions: 



MCQ 116

Which of the following is not classified under Leukodystrophy ?

a. Multiple Sclerosis

b. Alexander's disease

c. Leigh disease

d. Zellweger syndrome


ANSWER:
Ans : A

White matter diseases can be Demyelinating or Dysmyelinating.
Multiple sclerosis is a demyelinating disease.
Leukodystrophies are Dysmyelinating diseases.





0 Prograssive Multifocal leukoencephalopathy

Reactions: 


MCQ 114 , 115

114. Etiological agent for Prograssive Multifocal leukoencephalopathy is ?
a. HIV
b. JC virus
c. Mycobacterium TB
d. None


115. PML is seen mostly in association with ?
a. AIDS
b. Tuberculosis
c. Sarcoidosis
d. Lymphoproliferative disorders


ANSWER:
114. B
115. A





1 Important developmental milestones

Reactions: 


Important developmental milestones
1 month
  • Turns head to sound


2 months  
  • Social Smile


3 months
  • Neck holding (i.e No head lag - but sways)
  • Grasp reflex disappear 
  • Recognizes mother
  • Cooing


4 months
  • Goes for objects


5 months 
  • Sits with support
  • Bidextrous grasp
  • Complete head control (no swaying)


5-6 months
  • Babbling


6 months 
  • Rolling in bed
  • Monosyllables ( ma , ba )


6-7 months
  • Transfer objects 
  • Palmar grasp
  • Smiles at mirror image
  • Depth perception starts (fully at 6-7 years)


8 months 
  • Sit without support


9 months 
  • Crawling
  • Pincer grasp
  • Waves bye bye
  • Stranger anxiety
  • Bisyllables (ma-ma , ba-ba)
  • Peek a boo


10 months
  • Creeping
  • Points to objects


12 months
  • Stand without support
  • Turns 2 pages at a time
  • 2 words with meaning


13 months
  • Walk without support
  • Casting (Picks up things and throw)


15 months
  • Self feed with spoon
  • Tower of 2 cubes


18 months
  • Self feed with cup
  • Tower of 3-4 cubes
  • 10 words with meaning


2 years 
  • Walk upstairs
  • Turns 1 page at a time
  • Tower of 6-7 cubes
  • Train
  • Dry by day (bladder control)
  • Simple sentences with 2 words
  • Age with highest risk of self poisoning


2.5 years
  • Train with chimney


3 years
  • Ride tricycle
  • Tower of 9 cubes
  • Bridge
  • Circle
  • Dry by night 
  • Dress and undress under supervision
  • Knows age and gender
  • Handedness
  • Identify colors


4 years
  • Rectangle
  • Dress and undress without supervision
  • Tells story


5 years 
  • Skip off both feet
  • Triangle
  • Know 4 color


6 years
  • Makes Steps


6-7 years 
  • Depth perception fully developed







0 Spinal Hydatid Cyst

Reactions: 


MCQ 113

Q. What is the most common site of Spinal Hydatid cyst ?

a. Extradural
b. Intradural Extramedulary
c. Intramedullary
d. Vertebral

ANSWER:
Ans : D 
Vertebral body cysts are most common because of portovertebral shunting.




0 Fetal Alcohol syndrome

Reactions: 


Fetal Alcohol syndrome



  1. Absent philtrum
  2. Microcephaly
  3. Skin folds at corner of eye
  4. Low nasal bridge
  5. Small eye openings
  6. Short nose
  7. Flat Mid face (Mid facial hypoplasia)
  8. Thin upper lip








0 Neural Tube defects ( NTD )

Reactions: 


Neural Tube defects ( NTD )

Neuropores 
  • Anterior - normally closes at 25 days
  • Posterior - normally closes at 27 days

NTD due to failure of closure.
  • Anterior nonclosure - Ancephalocele , Encephalocele
  • Posterior nonclosure - Spina Bifida , Meningocele , Meningomyelocele

Risk factor :
  1. Maternal folic acid deficiency (Most important)
  2. Maternal Zn deficiency
  3. Materanl Malnutrition
  4. Maternal Alcohol , Diabetes , Radiation
  5. Maternal Anticonvulsan (Valproate , phenytoin)

Thus Start folic acid 1 month before conception to 3 months after conception. -> 400microg


To prevent recurrence : give 4mg Folic acid (i.e 10 times)

Meningocele : Herniation of meninges

Meningomyelocele : Herniation of meninges + nerve roots

if Lumbosacral Meningomyelocele - Complications
  1. Paraplegia /parasis
  2. Posterior dislocation of hip
  3. Bowel and bladder incontinence
  4. Do MRI head - because 80% will have obstructive hydrocephalus , because of Arnold Chiari type 2 malformation.

Encephalocele : Herniation of brain tissue. 
Occipital is more common than frontal.

Earliest Congenital anomaly that can be diagnosed by USG : Anencephaly (at 10-11 wks)


Tests for NTD
  1. Amniocentesis : Acetyl cholinesterase and Alpha feto protein
  2. Maternal Serum : AFP (MSAFP)





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