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Understanding Congenital Heart Disease: Types, Pathogenesis, and Clinical Features

Congenital Heart Disease (CHD) is the most common type of heart disease affecting children, with Ventricular Septal Defect (VSD) being the most prevalent anomaly. CHD has multifactorial etiology, with genetic factors like Down syndrome and environmental influences such as congenital rubella playing crucial roles. Clinical features differ based on shunt mechanisms leading to either cyanotic or acyanotic conditions. This overview covers the pathogenesis, clinical manifestations, and distinctions between left-to-right and right-to-left shunts, aiding in understanding and managing this critical health issue.

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Understanding Congenital Heart Disease: Types, Pathogenesis, and Clinical Features

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    1. Heart - Pathology Congenital Heart Disease MC type of heart disease among children MC type= VSD Etiology and Pathogenesis Multifactorial = majority of cases Developmental Trisomy 21 (Down syndrome) MC known genetic cause Endocardial cushion defects (AVSD) & ASD Di -George syndrome with TOF Environment= infection (congenital rubella) or teratogens

    2. Heart - Pathology Congenital Heart Disease Clinical Features Malformations causing left-to-right shunt right-to-left shunt Obstruction Mechanisms - left-to-right shunt

    3. Heart - Pathology Congenital Heart Disease Mechanisms - right-to-left shunt

    4. Heart - Pathology Congenital Heart Disease Mechanisms - others

    5. Heart - Pathology Congenital Heart Disease Left-to-right shunts ASD, VSD, and Patent Ductus Arteriosus [PDA] Congenitally acyanotic Late cyanotic congenital heart disease or Eisenmenger syndrome ASD MC congenital cardiac anomaly asymptomatic until adulthood Secundum ASD =90% of all ASDs Defect is due to deficient or fenestrated oval fossa Volume hypertrophy of RA & RV Pulmonary blood flow - 2 to 4 times normal Murmur at pulmonary area Complications = uncommon Normal postoperative survival

    6. Heart - Pathology Congenital Heart Disease VSD Most common congenital cardiac anomaly (42%) Spontaneously close in half of patients ? rd are associated with other defects (TOF) clinically = Size is most critical Morphology Membranous VSD(90%) Swiss-cheese septum =Multiple muscular septum VSDs Right ventricular hypertrophy and pulmonary hypertension are present from birth Rx = Surgical closure indicated at age 1 year with large defects

    7. Heart - Pathology Congenital Heart Disease PDA Majority are isolated defects (90%) Others (10%)-associated with VSD, COA, or PS, AS No functional difficulties at birth & childhood Continuous harsh machinery-like murmur PDA is Life-threatening or life-saving prostaglandin E ? preservation of ductal patency ? Drug closes PDA AVSD (endocardial cushion defect ) Superior & inferior endocardial cushions fail to fuse ? Inadequate formation of the AV valves MC with Down syndrome

    8. Heart - Pathology Congenital Heart Disease Right to left shunts Tetralogy of Fallot - MC cyanotic congenital heart disease Transposition of the great arteries Tricuspid atresia Total anomalous pulmonary venous connection Truncus Arteriosus

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