MedicoNotebook: March 2013

Transposition of the Great Arteries (TGA)

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

Duct dependant heart defects

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

Chest X-Ray PA view - Cardiac Borders

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:

MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

Medical One Liners 131 - 140

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

Patent Ductus Arteriosus

Patent Ductus Arteriosus (PDA)

MC in Preterms

Term baby with PDA - Think of Rubella

Clinical Features :

Failure to thrive
Recurrent infections
Feeding difficulty
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

Ventricular Septal Defect

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 1^st chamber to enlarge is LA	Symptoms : at 6-10wks Failure to thrive Recurrent infections Feeding difficulty CHF 1^st chamber to enlarge is LA
	LVH (not right)	LVH (not right)
		Delayed diastolic murmer at mitral apex. -> Large VSD

Complictions :

MC - Infective endocarditis(IE) (VSD is also most common disease which has IE)
CHF at 6-10 wks
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

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

World Down Syndrome Day

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

Atrial Septal Defect (ASD)

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 :

Familial ASD syndrome
With - VSD , Primary heart block , Atrial fibrillation, Bony Abnormality ( Thumb - absent / rudimentary)
Pleiotropy - Multiple effects due to defect in single gene ( here TBX5)
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

PaQ1c2v3 - Sequential Cardiac Cycle events

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

Nadas Criteria

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

Mitochondrial Inheritance

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 )

Anticipation

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

Fragile X ( CGG repeat) { here this anticipation phenomenon is termed Sherman Paradox }
Friedreich ataxia (GAA)
Myotonic Dystrophy ( CTG )
Spinobulbar Muscular Atrophy ( CAG)
Huntington's (CAG)
Spinocerebellar Ataxia (CAG/CTG)

Genomic Imprinting & Uniparental Disomy

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

Oculocerebrorenal syndrome = Lowe syndrome

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.

Mosaicism

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)

Noonan vs Turner Syndrome

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)

Medical One Liners 121-130

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.

Leukodystrophies

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:

Prograssive Multifocal leukoencephalopathy

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:

Important developmental milestones

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

Spinal Hydatid Cyst

MCQ 113

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

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

ANSWER:

Fetal Alcohol syndrome

Fetal Alcohol syndrome

Absent philtrum
Microcephaly
Skin folds at corner of eye
Low nasal bridge
Small eye openings
Short nose
Flat Mid face (Mid facial hypoplasia)
Thin upper lip

Neural Tube defects ( NTD )

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 :

Maternal folic acid deficiency (Most important)
Maternal Zn deficiency
Materanl Malnutrition
Maternal Alcohol , Diabetes , Radiation
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

Paraplegia /parasis
Posterior dislocation of hip
Bowel and bladder incontinence

Do MRI head

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

Amniocentesis : Acetyl cholinesterase and Alpha feto protein
Maternal Serum : AFP (MSAFP)

Pages