CONGENITAL DISEASES

Made and presented by Dr Sanjay Sharma

Congenital disease types

INTERNAL

Ones which are detected only through investigations

Eg. congenital heart diseases, sickle cell disease

EXTERNAL

Can be diagnosed with naked eye.

Eg. Flat foot syndrome, keratoconus

DEFINITION

is a condition which is present at the time of birth which varies from the standard presentation.

Etiology:Unknown,multifactorial inheritance, genetic factors implicated, high incidence in first degree relatives.

COMMONLY ENCOUNTERED CONGENITAL DISEASES

Congenital heart diseaseCongenital herniaCongenital cataractPre auricular sinusHypospadiasFlat foot syndromekeratoconus

Most common congenital heart diseases

VENTRICULAR SEPTAL

DEFECT

ATRIAL SEPTAL DEFECT

PATENT DUCTUS

ARTERIOSIS

TETRALOGY OF FALLOT

Clinical sign and symptoms

Rapid breathing Cyanosis (a bluish tint to the skin,

lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause

chest pain or other painful symptoms.

Ventricular septal defect

A Ventricular Septal Defect (VSD) is a hole in the ventricular septum.

most common forms of congenital heart disease, accounting for 21% of all cases.

Treatment: Endocarditis prophylaxis,digoxin,diuretics.

Surgical closure before pulmonary vascular changes become irreversible

Atrial septal defect

An Atrial Septal Defect (ASD) is a hole in the atrial septum

Accounts for 1/3rd of CHD in adults

Two to three times more common in women

Surgical closure before age 20 associated with long-term survival same as general population

Closure between ages 25-41 followed slightly shorter survival

After age 41 closure associated with increase in late morbidity and mortality

Tetralogy of fallot

Ventricular septal defect (hole between the right and left ventricles)

Narrowing of the pulmonary outflow tract (the valve and artery that connect the heart with the lungs)

Overriding aorta that is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle

Thickened wall of the right ventricle (right ventricular hypertrophy)

Managment

In severe episodes, IV propranolol (Inderal) may be administered.

Primary correction is the ideal operation for treatment of tetralogy of Fallot (TOF) and is usually performed under cardiopulmonary bypass (CPB).

Patent ductus arteriosus Patent ductus arteriosus

(PDA) is a condition in which the ductus arteriosus does not close

ETIOLOGY-idiopathic,congenital rubella syndrome,down syndrome

results in irregular transmission of blood between two of the most important arteries close to the heart, the aorta and the pulmonary artery

Managment

medications such as indomethacin or a special form of ibuprofen are often the first choice

percutaneous interventional method. Via the femoral vein or femoral artery, a platinum coil can be deployed via a catheter, which induces thrombosis (coil embolization)

PDA occluder device

FLAT FOOT/PES PLANUS/FALLEN ARCHES

the inner area of the side of the feet do not form any arches giving the appearance of a flat foot instead of a curved appearance.

ETIOLOGY-genetic, congenital bone malformation, chronic foot strain,injury

Management-orthotic devices, Non-steroidal anti-inflammatory drugs,surgery.

Hernia(latin-rupture)

An abnormal protrusion of an organ or tissue through a defect in its surrounding walls

Occur at sites where aponeurosis and fascia are not covered by striated muscle

Types of Hernias

Inguinal hernia: Makes up 75% of all abdominal wall hernias and occurring up to 25 times more often in men than women.

Two types of inguinal hernias: indirect inguinal hernia and direct inguinal hernia. Indirect inguinal hernia▪ follows pathway that testicles made during

prebirth development. ▪ This pathway normally closes before birth but

remains a possible place for a hernia.

Types Cont.

Umbilical hernia These common hernias (10-30%) are often

noted at birth as a protrusion at the bellybutton (the umbilicus).

This is caused when an opening in the abdominal wall, which normally closes before birth, doesn’t close completely.

Even if the area is closed at birth, these hernias can appear later in life because this spot remains a weaker place in the abdominal wall.

They most often appear later in elderly people and middle-aged women who have had children.

Treatment

Treatment of a hernia depends on whether it is reducible or irreducible and possibly strangulated. Reducible▪ Can be treated with surgery but does not have to be.

Irreducible▪ All acutely irreducible hernias need emergency

treatment because of the risk of strangulation.▪ An attempt to push the hernia back can be made

Treatment Cont.

Strangulation▪ Operation

Prevention You can do little to prevent areas of the

abdominal wall from being or becoming weak, which can potentially become a site for a hernia.

Treatment Cont.

Strangulation▪ Operation

Prevention You can do little to prevent areas of the

abdominal wall from being or becoming weak, which can potentially become a site for a hernia.

Hypospadias

Any condition in which the meatus occurs on the undersurface of the penis

SIGNS AND SYMPTOMS-downward curve (ventral curvature or chordee) of the penis during an erection

Abnormal spraying of urineHaving to sit down to urinate

Malformed foreskin that makes the penis look "hooded“

MANAGEMENT- most urologists recommend repair before the child is 18 months old, tissue grafts are used to close the opening

Types

Using buccal mucosa for grafting

keratoconus

Keratoconus is degeneration of the structure of the cornea. The cornea is the clear tissue covering the front of the eye.

The shape of the cornea slowly changes from the normal round shape to a cone shape.

Cause- The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea.

SYMPTOMS- The earliest symptom is subtle blurring of vision that cannot be corrected with glasses

MANAGMENT

CONTACT LENSESCORNEAL

TRANSPLANTATION INTRACORNEAL

RING- the shape of the cornea can be changed so that vision with contact lenses is improved.

CONGENITAL CATARACT

A congenital cataract is a clouding of the lens of the eye that is present at birth.

ETIOLOGY- Intrauterine infections• Rubella

• Toxoplasmosis

• Cytomegalovirus

• Varicella

Metabolic disorders• Galactosaemia

• Hypoglycaemia

• Hypocalcaemia

SYMPTOMS-

Gray or white cloudiness of the pupil (which is normally black),

Infant doesn't seem to be able to see (if cataracts are in both eyes)

"Red eye" glow of the pupil is missing in photos

MANAGEMENT MILD FORM-no treatment

required Severe form-surgical removal

of cataract

Types of congenital cataractAnterior polar

Posterior polar

Coronary

Cortical spoke-like

UNDESCENDED TESTIS

Cryptorchidism/Empty scrotum/Monorchism/Vanished testes\Retractile testes

Most of the time, children's testicles descend by the time they are 9 months old

common in infants who are born early (premature infants).

Management- Usually the testicle will descend into the scrotum without treatment during the child's first year of life. If this does not occur, the child may get hormone injections (B-HCG or testosterone) to try to bring the testicle into the scrotum.

Surgery (orchiopexy) to bring the testicle into the scrotum

PREAURICULAR SINUS

small dells adjacent to the external ear, usually at the anterior margin of the ascending limb of the

inherited in an incomplete autosomal dominant pattern helix

PRESENTATION--Most people with preauricular sinuses are asymptomatic.

May present with chronic intermittent drainage of purulent material.

facial cellulitis or ulcerations located anterior to the ear.

Management-Once a patient acquires infection of the sinus, he or she must receive systemic antibiotics. If an abscess is present, it must be incised and drained, and the exudate should be sent for Gram staining and culturing to ensure proper antibiotic coverage.

Spina bifida

developmental congenital disorder caused by the incomplete closing of the embryonic neural tub

SIGNS- Leg weakness and paralysis

Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)

Bladder and bowel control problems, including incontinence, urinary tract infections, and poor renal function

ETIOLOGY- results from the interaction of multiple genes and environmental factors(Medications such as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body temperature from fever or external sources such as hot tubs and electric blankets may increase the chances of conception of a baby with a spina bifida

Managment

There is no known cure for nerve damage caused by spina bifida

To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back.

Cleft lip (cheiloschisis) cleft palate (palatoschisis)

Cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined

If the cleft does not affect the palate structure of the mouth it is referred to as cleft lip

MANAGMENT

Cleft lip and palate is very treatable; however, the kind of treatment depends on the type and severity of the cleft.

Often a cleft palate is temporarily covered by a palatal obturator

Cleft palate can also be corrected by surgery, usually performed between 6 and 12 months

Other common congenital diseases

Thallasemia major Sickle cell disease Congenital hip dislocation Hypoplasia of tibia/femur Shortening of bones Anal atresia

Significance in medical scrutiny Internal and

external congenital diseases not covered in AMHI retail/corporate except few corporates

Internal congenital covered in PSU corporate

EXTERNAL CONGENITAL NOT COVERED ANYWHERE

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