Clinical features of congenital heart disease

The majority of congenital developmental anomalies of the heart are present 6 weeks after conception.Congenital heart disease can be cyanotic or acyanotic.

There are three types of congenital heart  disease

Grade 1  -  Left to Right shunts 

Grade 2  -  Right to Left  shunts

Grade 3  -  Obsructive lesions

Clinical features of LEFT to RIGHT shunts(acyanotic heart disease)

• Frequent chest infections are seen (6-8 attacks first year of life)
• Tendency for increased sweating that is related to their tendency for developing Congestive cardiac failure
• Precordial bulge is seen.
• Hyperkinetic  precordium occur.
• Tricuspid /mitral mid diastolic murmur is heard.
• X-ray  show  plethoric lung field + cardiomegaly.
• Example are VSD,ASD, PDA,AV canal defect

NADA’S  CRITERIA

MAJOR CRITERIA

1. Systolic murmur grade III or more
2. Diastolic murmur
3. Cyanosis
4. Cardiac failure

MINOR  CRITERIA

1. Systolic murmur less than grade III
2. Abnormal S2
3. Abnormal ECG
4. Abnormal X-ray
5. Abnormal BP

One major & two minor criteria are essential.

Embryology of Patent ductus arteriosus

Ductus arteriosus arise from the left 6th aortic arch.

Ductus closes physiologicallt within 2 hours of birth.

Ductus anatomically closes by 2 weeks.

Closure of ductus can take upto 8 weeks in term infants and upto 6 months in preterm infants.

Why does the ductus closes after birth?

1.Ductus artenosus closes immediately after birth due to sudden increase in partial pressure of oxygen.

2.Decreased level of vasoactive prostaglandins.

What are the ductus dependent circulations

In certain situations ductus artenosus is the source of pulmonary blood flow. They include 

1. Pulmonary atresia with intact inter ventricular septum.
2. Ductus is the only source of systemic blood flow. 
3. Hypoplastic left heart syndrome.
4. Aortic atresia.
5. Complete interruption of aortic arch.
6. Preductal coarctation of aorta.

Ductus as the site of bidirectional mixing of blood seen in TGA (Transposition of great arterires)

Heart sounds in ventricular septal defect

P2 (pulmonary component of second heart sound)is usually soft in small – moderate and large VSD because the murmur mask P2. 
P2 is loud in VSD with PAH and Eisenmenger syndrome.
Split in VSD  1.Split is absent in small VSD
2.Wide mobile split is heard in moderate to large VSD due to the following

• Shortening of left ventricular systole 
• Prolonged right ventricular systole 

3.Single S2 is heard in Eisenmenger VSD
S2 is single in Eisenmenger syndrome because the left and right ventricle act as a common chamber and it eject blood into the great vessels at equal resistance.

Read related topics

1. Development of ventricular and outflow tract separation
2. Anatomical classification of Ventricular septal defect
3. Heart sounds in ventricular septal defect
4. Murmur in Ventricular Septal Defect (VSD)
5. Development of ventricular septum
6. What are the clinical features of ventricular septal defect (VSD)?
7. Pathophysiology of ventricular septal defect (VSD)

Murmur in Ventricular Septal Defect (VSD)

Murmur in VSD depends on the size of VSD. Depending on the size of VSD it may produce either pansystolic murmur or early systolic murmur.

• Murmur in trivial defct à produces – high pitched early  systolic decrescendo murmur at lower left sternal border.
• Small defect produce high pitched pansystolic murmur at the LLSB.
• Moderate defect produce high pitched pansystolic murmur at the LLSB.
• Large defect produce high pitched pansystolic murmur at the LLSB.
• VSD with PAH à high pitched early systolic decrescendo murmur.
• Eisenmenger VSD  high pitched early systolic decrescendo murmur.

So VSD with early systolic murmur is heard in

1. Trivial VSD
2. VSD with PAH
3. Eisenmenger VSD

What is the basis for pansystolic murmur with midsystolic accentuation in large VSD

Rapid ejection of large stroke volume into the dilated pulmonary artery produces pulmonary flow murmur. It is the cause for midsystolic accentuation.

Read related topics

1. Development of ventricular and outflow tract separation
2. Anatomical classification of Ventricular septal defect
3. Heart sounds in ventricular septal defect
4. Murmur in Ventricular Septal Defect (VSD)
5. Development of ventricular septum
6. What are the clinical features of ventricular septal defect (VSD)?
7. Pathophysiology of ventricular septal defect (VSD)

Development of ventricular septum

Interventricular septum has two components, Trabecular and membranous part of septum

Trabecular septum	Membranous septum
Develop from primitive interventricular septum	Develop from Proximal bulbar septum and proliferation from AV cushion

Embryology of ventricular septum and correlation with type of VSD.

There are three important types of VSD.

1. Inlet type of VSD
2. Outlet type of VSD
3. Trabecular type.

Inlet type of VSD is due to the malalignment between the inlet and trabecular septum.

Here the defect in ventricular septum originate from the AV cushions.

Outlet type of VSD : Occur due to malalignment between the outlet and trabecular septum.

The defect is derived from proximal bulbar septum.

Trabecular type of VSD : Defect occur in that part of septum derived from primitive ventricular septum.

Types of VSD are

Perimembranous

It is the most common defect also called as subaortic or infracristal

Inlet type

Subtricuspid / AV canal type

Outlet type

Subpulmonic supra critical or infundibulbar

Read related topics

1. Development of ventricular and outflow tract separation
2. Anatomical classification of Ventricular septal defect
3. Heart sounds in ventricular septal defect
4. Murmur in Ventricular Septal Defect (VSD)
5. What are the clinical features of ventricular septal defect (VSD)?
6. Pathophysiology of ventricular septal defect (VSD)

What are the clinical features of ventricular septal defect (VSD)?

Clinical features of VSD depends on the size of septal defect.

Small VSD is asymptomatic.

Moderate and large VSD may present as dyspnoea on exertion, palpitation or recurrent chest infections.

Following are the clinical signs in VSD

1. Pulse is hyperkinetic in moderate to large VSD due to the vigorous left ventricular ejection.
2. Apex is forceful with cardiomegaly.
3. JVP in moderate to large VSD is prominent with a-v waves.
4. But in VSD with Eisenmenger syndrome small a wave is seen.
5. Systolic thrill is felt at lowersternal border.
6. Wide split of S2.
7. Left ventricular S3 is present.
8. Pansystolic murmur is heard at the lowersternal border.
9. There  may be  middiastolic flow murmur at apex.

Read related topics

1. Development of ventricular and outflow tract separation
2. Anatomical classification of Ventricular septal defect
3. Heart sounds in ventricular septal defect
4. Murmur in Ventricular Septal Defect (VSD)
5. Development of ventricular septum
6. Pathophysiology of ventricular septal defect (VSD)

Pathophysiology of ventricular septal defect (VSD)

Pathophysiology in VSD depends on the size of VSD. There are two types of VSD based on the size of defect.

Restrictive VSD (Small / moderate sized )

Non restrictive VSD

Pathophysiology of restrictive VSD

In restrictive VSD there is resistance to left to right shunt at the site of defect. Here the right ventricular systolic pressure is less than left ventricular systolic pressure.

Small VSD

Right ventricular systolic pressure is normal and pulmonary vascular resistance is also normal. So there is predominant left to right shunting during systole. These type of VSD usually closes spontaneously .

Moderate VSD

Right ventricular systolic pressure is elevated but it is less than left ventricular systolic pressure. Pulmonary vascular resistance is low. There is left to right shunt during systole and diastole occurs. Here predominantly left ventricular volume overload is seen. These type of lesions may occasionally undergoes spontaneous closure. The incidence of Eisenmenger syndrome is rare. Left ventricular failure is the main complication.

Pathophysiology of non-restrictive VSD

In non-restrictive VSD the systolic pressure in left ventricle and right ventricle is equal so both act as a common chamber and shunt depends on pulmonary and systolic vascular resistance. Here the pulmonary vascular resistance is high. There is large left to right shunt and left ventricular volume overload is seen. Eisenmenger syndrome is common.

When the patient develops pulmonary hypertension in non-restrictive VSD the left ventricular volume overload decreases. Left to right shunt also decreases and right to left shunt increases. Right ventricular pressure overload develops

Read related topics

Development of ventricular and outflow tract separation
Anatomical classification of Ventricular septal defect
Heart sounds in ventricular septal defect
Murmur in Ventricular Septal Defect (VSD)
Development of ventricular septum
What are the clinical features of ventricular septal defect (VSD)?
Pathophysiology of ventricular septal defect (VSD)

Clinical features of Iron deficiency anemia

Insidious onset of symptoms with gradual progression is seen.

There will be symptoms of anemia.

Fatigue is the most common complaint.

Other symptoms are irritability, palpitations, breathlessness, dizziness and headache.

Usually people seeks medical attention when Hb is below 7-8 g/dl.

Neuromuscular manifestations of anemia 

Attention deficit, cognitive dysfunction. occasionally - neuralgic pains, numbness and tingling are seen. Rarely raised intrcranialtension & papilledema 

Nail changes in iron defiency

Nails are brittle,fragile and longitudinally ridged.Tytpical thinning ,flattening and koilonychias are seen 

Changes in oral mucosa

1. Atrophy of lingual papillae
2. Filiform (in ant 2/3rd) - first to get atrophied
3. Soreness and burning of tongue
4. Glossitis 
5. Smooth , waxy and glistening tongue
6. Changes reversed after 1-2 wks of iron therapy
7. Angular stomatitis which is also seen in riboflavin & B6 deficiency
8. Dysphagia called as sideropenic dysphagia (paterson-kelly syndrome or Plummer-vinson syndrome)
9. Stomach there is  gastritis & later atrophy
10. Antibodies to gastric parietal cells are seen in in 1/3rd of cases

PICA - habitual ingestion of unusual substances. Eg - pagophagia - purposeful eating of ice is seen in iron deficiency anemia.

Spleen tip is palpable in 10% cases 

Disturbances in menstruation can occur in females

Skeletal changes are observed in children

In cases of long standing Fe deficiency, Diploic spaces are widened, outer tables are thinned

Rarely - hair-on-end appearance is seen.

Types of ASD (Atrial septal defect)

 Atrial septal defect (ASD) is a defect in the interatrial septum permitting free communication of blood between the atria. Based on the location of the septal defect ASD can be classified into four types.

1. Ostium secundum ASD is the commonest type of ASD which involves the fossa ovalis, in the mid-septal region. 20% of these cases are associated with mitral valve prolapse (MVP). 
2. Ostium primum type of ASD is rare, defect is near AV valves. The AV valves may also be deformed.
3. Sinus venosus type is also rare, defect is seen high in the atrial septum near the entry of superior venacava (SVC).
4. Coronary sinus type of ASD

Lutembacher's syndrome is a rare combination of ASD and rheumatic mitral stenosis.

Read related topics -ASD

1. Management of ASDatrial septal defect
2. What is the effect of PAH on physical signs of ASD ?
3. What are the complications of ASD ?
4. What are the investigation findings in ASD (atrial septal defect) ?
5. What is the Hemodynamics in ASD ?
6. What are the Murmurs in atrial septal defect?
7. Why there is Fixed split in ASD
8. How will you clinically diagnose atrial septal defect?
9. Development of interatrial septum and its defect (ASD)
10. Development of interatrial septum