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Heart

Image : “Mammal heart model 03- FMVZ USP-05” by Wagner Souza e Silva. License: CC BY-SA 4.0


Patent Ductus Arteriosus (PDA)

Auscultatory findings

Abnormal mitral valve with congenital elongation and patent ductus arteriosus was shown apical four chamber view (A) and parasternal short axe view (B)

Image: “Abnormal mitral valve with congenital elongation and patent ductus arteriosus was shown apical four chamber view (A) and parasternal short axe view (B), respectively.” by Openi. License: CC BY 3.0

Small ductus

  • Systolic murmur in the parasternal 2nd intercostal space (ICS)

Bigger ductus

  • ‘Machinery murmur’ with systolic crescendo and diastolic decrescendo

Etiology

  • Congenital
  • Up to 10% of all congenital heart defects in adult age
  • In premature babies, often because of immaturity of the child
  • In mature newborns, structural anomalies more likely

Clinic

  • Dyspnea
  • Weight faltering
  • Poor nourishment (resulting in cerebral hemorrhage and acute renal failure in premature babies, for example)

Unique features

It is a left-to-right-shunt, typically with a quick and high pulse. The ECG shows a left ventricular volume load. Spontaneous closure is often found in premature babies, but rare in mature newborns.

heart with atrial septal defect

Image: “Atrial Septal Defect” by Bruce Blaus. License: CC BY 3.0

Atrial Septal Defect (ASD)

Auscultatory findings

  • Systolic murmur in the left parasternal 2nd ICS
  • Constant split 2nd heart sound in the left 2nd ICS
  • Early diastolic interval noise in the left 4th ICS

Etiology

  • Congenital
  • 10% of the congenital heart defects in adult age (60–70% ASD II (ostium secundum defect), 30% ASD I (ostium primum defect), and the rest rare defects

Clinical manifestations

Variable clinical manifestations due to severity:

  • Frequent bronchopulmonary infections
  • Restricted power and rapid fatigue
  • Exertional dyspnea
  • Palpitations
  • Chest pain
  • Cerebral insults
  • Right cardiac insufficiency
  • No cyanosis!

Unique features

It is left-to-right-shunt. In 80% of the cases with an ASD smaller than 5 mm, a spontaneous closure occurs within the first four years of life. ECG shows a right axis deviation with the right heart load. The right ventricle is enlarged in the echo. The pulmonary trunk is prominent radiographically, and the vascular flow of the lungs is increased. Small shunts often remain asymptomatic.

Ventricular Septal Defect

heart with ventricular septal defects

Image: “Ventricular Septal Defect” by National Heart Lung and Blood Institute. License: Gemeinfrei

Auscultatory findings

Depending on the size of ventricular septal defect (VSD) (the smaller, the louder):

Small defect:

  • Properly split 2nd heart sound in the left 2nd ICS
  • Early diastolic rough pressed-steal sound in the left parasternal 3rd to 4th ICS

Medium-sized defect:

  • Third heart sound
  • Systolic flow noise in the left parasternal 3rd to 4th ICS
  • Early diastolic murmur at the cardiac apex

Eisenmenger’s VSD:

  • Trumpeting 2nd heart sound in the left 2nd ICS
  • Fourth heart sound
  • Pulmonary ejection sound
  • Mesosystolic interval murmur (left parasternal 2nd to 3rd ICS)
  • Graham-Steel murmur involving pulmonary valve insufficiency

Etiology

  • Congenital
  • Most common heart defect associated with about 35% of all congenital heart defects

Clinical manifestations

  • Cardiac insufficiency
  • Tachycardia  and tachypnea
  • Sweating
  • Sucking weakness
  • Weight faltering
  • Exertional dyspnea
  • Recurring bronchopulmonary infects
  • Cyanosis
  • Dysrhythmia
  • Syncope
  • Cerebral abscess

Unique features

It is a left-to-right-shunt with recirculation of the blood via pulmonary circulation while the volume of the shunt depends on factors such as the size of VSD and resistance. The right ventricle can manage higher compressive and volume loads, and the left ventricle with higher volumes.

A shunt inversion can occur if the pressure in the right ventricle is larger than in the left ventricle. Central cyanosis (Eisenmenger’s reaction) occurs and is irreversible in fixed pulmonary hypertonia. ECG can show right and left heart loads. Spontaneous closure is possible in small, perimembranous VSDs.

Pulmonary Stenosis

Pulmonary valve stenosis

Image: “Pulmonalstenose” by Mariana Ruiz LadyofHats. License: Gemeinfrei

Auscultatory findings

  • Pulmonary ejection detected as clicks, early diastolic
  • Heart sound widely split along with silent pulmonary valve
  • Systolic ejection murmur (p.m. left parasternal 2nd to 3rd ICS, depending on the localization of the stenosis) or systolic vessel murmur at the lungs
  • Murmur referred to the back

Etiology

  • Congenital
  • 10% of congenital heart defects (valvular stenosis)
  • 3% of all congenital heart defects (sub/supravalvular stenosis)

Clinical manifestations

Clinical symptoms due to permanently smaller cardiac output (depending on the severity of the stenosis):

  • Physical fatigue
  • Exertional dyspnea
  • Heart insufficiency
  • Vertigo

Unique features

Left parasternal systolic whirr and elevating pulsations at the inferior sternal border are typical. The ECG can be normal depending on the severity or show a right axis deviation with signs of right heart load.

Tetralogy of Fallot

heart with tetralogy of fallot

Image: “Tetralogy of Fallot” by National Heart Lung and Blood Institute (NIH). License: Gemeinfrei

Auscultatory findings

  • Singular 2nd heart sound
  • Rough 2/6–3/6 systolic murmur, on auscultation in the left parasternal 2nd to 3rd ICS
  • Diastolic reflux noise at the cardiac apex, possibly audible in aortic valve insufficiency or calcified pulmonary valve

Etiology

  • Most common congenital cyanotic heart defect (10%)
  • Microdeletions involving chromosome 22q11 in 15% of the patients

Clinical manifestations

  • Dyspnea, particularly upon exertion (in newborns sucking or crying, for example)
  • Hypoxic attacks leading to loss of consciousness, and restriction in power
  • Slight developmental delay
  • Cyanosis
  • Tachypnea
  • Drumstick fingers

Unique features

Tetralogy of Fallot is a right-to-left-shunt. Right axis deviation is typically found in the ECG, and right heart hypertrophy as well as ‘coeur-en-sabot’ in chest radiographs. The crouched position is typical (often in children), which increases systemic resistance and promotes pulmonary perfusion. Operative primary corrections are conducted in patients aged between 6 and 18 months.

Ebstein’s Anomaly

Ebstein Anomaly

Image: “Internal view of the left ventricle shows an anomalous muscular band that joins the free wall with the ventricular septum (stylus) in a heart with Ebstein’s anomaly.” by Luis Muñoz-Castellanos et al. License: CC BY 2.0

Auscultatory findings

  • SI and SII are widely slit
  • SIII and SIV can be heard
  • Serial clicks and mid-diastolic murmur

Etiology

  • Congenital
  • Rare heart defect (< 1% of the congenital heart defects)

Clinical manifestations

Variable presentations of a cyanotic heart defect:

  • Dyspnea
  • Fatigue
  • Restricted power
  • Heart pain
  • Palpitations
  • Hepatomegaly
  • ‘Quiet thorax’ (precordium often normal)

Unique features

Right-to-left-shunt associated with the relocation of the tricuspid valves into the right ventricle. The variable transverse diameter of the heart resulting in a Bocksbeutel shape suggesting extreme cardiomegaly can be measured. The anomaly is associated with cardiac dysrhythmia and accessory pathways (Wolff-Parkinson-White [WPW] syndrome).

Aortic Isthmus Stenosis

Aortic Isthmus Stenosis

Image: “Aortic Coarctation.” by BioMed Central Ltd., Ntsinjana et al. License: CC BY 2.0

Auscultatory findings

Properly split 2nd heart sound

  • Early systolic click
  • Mesosystolic murmur (p.m. at the left parasternal 3rd to 4th ICS)
  • Murmur also on auscultation between the scapulae
  • Diastolic decrescendo during insufficiency of the aortic valve
  • Murmurs that can be heard continuously in the area of collateral vessels

Etiology

  • Congenital
  • 7% of all congenital heart defects

Clinical manifestations

Symptoms due to hypertonus of the upper half and hypotonus of the lower half of the body:

  • Headache
  • Nosebleed
  • Vertigo
  • Tinnitus
  • Warm hands and cold feet suggesting intermittent claudication

Unique features

Aortic isthmus stenosis is possibly associated with anomalies such as a bicuspid aortic valve, leading to aortic valve insufficiency. Epsilon sign/triple sign in kinking or double contours of the ascendant aorta is visible radiographically. Blood pressure differences over 20 mmHg between the upper and lower or right and left half of the body are typical.

Congenital Valvular Aortic Stenosis

Congenital Valvular Aortic Stenosis

Image: “Aortic Stenosis: Narrowed Aorta 3mm (Foetus 26 weeks)” by Mirmillon. License: Gemeinfrei

Auscultatory findings

Rough systolic murmur (p.m. in the right parasternal 2nd ICS)

  • Whirr in the jugulum
  • Systolic murmur referred to the carotids
  • Paradoxically split heart sound
  • Early systolic ejection click

Etiology

  • Congenital
  • 6–10% of the congenital heart defects

Clinical manifestations

Symptoms depending on severity:

  • Mild stenosis are often without symptoms
  • Exertional dyspnea
  • Cardiac dysrhythmia
  • Angina
  • Vertigo and syncope

Unique features

The critical aortic stenosis of newborns occurs within the first days to weeks of life resulting in cardiac insufficiency. Signs of valvular high-grade stenosis include greyish skin and flat pulses.

Transposition of the Great Arteries (TGA)

Transposition of the Great Arteries (TGA)

Image: “Dextro-Transposition of the Great Arteries” by Centers for Disease Control and Prevention. License: CC0 1.0

 

Auscultatory findings

Complete transposition:

  • Quiet systolic murmur in the left 2nd ICS
  • Loud or singular 2nd heart sound
  • Further auscultatory findings depending on further existing anomalies

Etiology

  • Congenital
  • 5% of all congenital heart defects (complete transposition) and 1% of all congenital heart defects (corrected transposition)

Clinical manifestations

Complete transposition:

  • Cyanosis
  • Right cardiac insufficiency within the first days of life

Corrected transposition:

  • Normal during childhood
  • Cardiac dysrhythmia in adulthood (AV block, WPW syndrome)

Unique features

Transposition of the great arteries (TGA) is a right-to-left-shunt. The ductus arteriosus is postnatally opened with prostaglandin E to connect both circulations until arterial switch surgery is conducted. TGA occurs as an ‘egg-shape’ with bilateral extension of the heart radiographically.

Aortic Valve Insufficiency

Auscultatory finding

  • Whispering or pouring-flowing decrescendo murmur directly after the 2nd heart sound (best heard in the left parasternal 3rd ICS in forward bent patients)
  • Fusiform systolic murmur, possibly audible due to increased stroke volume
  • Austin-Flint murmur (rumbling late diastolic murmur) possibly audible due to obstruction of the anterior mitral valve cusp
Aortic Valve Insufficiency

Image: “Aortic Regurgitation” by BruceBlaus. License: CC BY 3.0

Etiology

Acute aortic valve insufficiency:

  • Aneurysm/dissection of the proximal aorta
  • Thorax trauma
  • Acute endocarditis

Chronic aortic valve insufficiency:

  • Structural valvular changes (e.g., bicuspid aortic valve, rheumatic fever)
  • Functional insufficiency due to dilatation of the aortic valve ring (e.g., arterial hypertonia, aortic aneurysm, syphilis)
  • Prolapse of aortic valve cusp/valve rupture

Clinical manifestations

Acute aortic valve insufficiency:

  • Acute left cardiac insufficiency
  • Lung edema
  • Cardiogenic shock

Chronic aortic valve insufficiency:

  • Asymptomatic for a long time
  • Angina pectoris
  • Exertional dyspnea
  • Palpitations
  • Syncope (rare)
  • Dysrhythmia (rare)
  • Sudden cardiac death (rare)

Unique features

In acute aortic valve insufficiency, the ventricle cannot adapt to the increased volume load in real time. Rapid and elevated pulse, as well as a high blood pressure amplitude with isolated systolic hypertonia and visible pulsation of the carotids, are typical. The radiograph shows cardiomegaly in ‘coeur-en-sabot shape’. In case of chronic and high-grade insufficiency, surgical valve replacement cannot overcome cardiac insufficiency because of large myocardial damage.

We also recommend the full article about aortic valve insufficiency.

Aortic Valve Stenosis

Demonstration of typical noncontrast CT study of a patient with severe calcified aortic stenosis and extensive difuse coronary calcifications

Image: “Demonstration of typical noncontrast CT study of a patient with severe calcified aortic stenosis and extensive diffuse coronary calcifications (picture A) in contrast with patient without concomitant coronary disease (picture B).” by Openi. License: CC BY 4.0

Auscultatory findings

  • Rough and fusiform systolic murmur with p.m. in the right parasternal second ICS
  • Murmur referred to the carotids
  • Aortic valve closing sound is weakened with eventual paradoxical splitting of the 2nd heart sound in higher-grade stenosis
  • Heart sound is variably split

Etiology

Valvular aortic valve stenosis:

  • Calcifications in old age
  • Early degeneration of a congenital bicuspid valve
  • Post-rheumatic

Subvalvular aortic valve stenosis:

  • Thickened septum in hypertrophic obstructive cardiomyopathy (HOCM)
  • Fibrous ring with the restraint of the outflow tract of the left ventricle

Supravalvular stenosis:

  • Williams-Beuren’s syndrome (calcium metabolic disorder)
  • Hourglass-shaped constrained ascending aorta

Clinical manifestations

  • Low-grade stenosis, often without symptoms (symptoms in an opening area < 1,0 cm²)
  • Limited resilience
  • Exertional dyspnea
  • Angina pectoris
  • Vertigo and syncopes
  • Occasional palpitations

Unique features

Slow and flat pulse and elevating apical impulse are typical. Arterial blood pressure and blood pressure amplitude decrease with falling stroke volume. The radiograph shows a sinistral extension only in decompensation. Symptomatic aortic valve stenosis is associated with a dismal prognosis (2-year survival rate lower than 50%).

We also recommend the full article about aortic valve stenosis.

Mitral Valve Stenosis

Auscultatory findings

  • Trumpeting 1st heart sound
  • Diastolic decrescendo murmur (p.m. at the cardiac apex)
  • Subsequent presystolic crescendo murmur (only in sinus rhythm)
  • Mitral opening sound
  • Graham-Steell murmur in pulmonary insufficiency
Mitral Valve Stenosis

Image: “Mitral Valve Stenosis.” by BruceBlaus. License: CC BY 3.0

Etiology

  • Rarely congenital
  • Rheumatic fever (may be chronic)

Clinical manifestations

  • Symptoms depending on the remaining opening area
  • Loss of power
  • Fatigue
  • Dysrhythmia
  • Cyanosis (peripheral) and mitral face (flush of the cheeks)
  • Dyspnea
  • Congested liver and kidney
  • Cardiac asthma
  • Jugular vein congestion
  • Peripheral edemas

Unique features

The left atrium is enlarged in radiographs presenting a ‘standing egg-shape’. Double contours are observed at the right heart border. As well, hypertrophy of the right ventricle and a widened pulmonary artery are observed.

We also recommend the full article about mitral valve stenosis.

Mitral Valve Insufficiency

mitral valvae stenosis

Image: “Mitral Valve Stenosis.” by BruceBlaus. License: CC BY 3.0

Auscultatory findings

  • Quiet first heart sound
  • Systolic murmur directly after the 1st heart sound (high frequency, ribbon-like)
  • P.m. at the cardiac apex
  • Murmur referred to the axilla
  • Short diastolic interval murmur in higher-grade insufficiency
  • Third heart sound

Etiology

Relative mitral valve insufficiency:

  • Dilated mitral valve ring, for example, in dilated cardiomyopathy or left cardiac insufficiency

Acute mitral valve insufficiency:

  • Avulsion of tendinous chords or papillary muscles, for e.g., in myocardial infarction, mitral valve prolapse, trauma
  • Rheumatic or bacterial endocarditis

Chronic mitral valve insufficiency:

  • Chronic degenerative changes
  • Calcification
  • Coronary heart disease
  • Cardiomyopathy
  • Autoimmune or collagen diseases

Clinical manifestations

Acute mitral valve insufficiency:

  • Acute cardiac insufficiency
  • Lung edema
  • Cardiogenic shock

Chronic mitral valve insufficiency:

  • Chronic asymptomatic
  • Dyspnea
  • Palpitations
  • Cough attacks at night
  • Fatigue

Unique features

The function, as well as morphology of the left ventricle, can be evaluated via echocardiography. Additional color Doppler study reveals systolic reflux.

We also recommend the full article about mitral valve insufficiency.

Mitral Valve Prolapse

transesophageal echocardiogram of mitral valve prolapse

Image: “Transesophageal Echocardiogram of Mitral Valve Prolapse” by JHeuser. License: CC BY-SA 3.0

Auscultatory findings

  • Late systolic murmur (p.m. at the cardiac apex)
  • Middle to late diastolic click (temporal shift depending on the patient’s position or alternate maneuvers)

Etiology

Idiopathic (primary) mitral valve prolapse:

  • Imbalance in the size of valves, valve supporting structures, and ventricles

Secondary mitral valve prolapse:

  • Coronary heart disease (CHD)
  • Atrial septal defect
  • Dilated or hypertrophic cardiomyopathy
  • Myocarditis
  • Marfan’s or Ehler-Danlos’s syndrome (weakness of the connective tissue)

Clinical manifestations

  • Often asymptomatic
  • Dysrhythmia with extrasystoles and tachycardia
  • Palpitations
  • Syncopes
  • Dyspnea
  • Decreased resilience
  • Fatigue
  • Angina pectoris

Unique features

Definitive diagnosis is established only via echocardiography. The ‘hammock phenomenon’ shows whether the thickened mitral valve cusps prolapse into the left atrium during systole. Women are more often affected than men.

We also recommend the full article about mitral valve prolapse syndrome.

Pulmonary Valve Insufficiency

Severe pulmonary regurgitation

Image: “Severe Pulmonary Regurgitation” by CardioNetworks. License: CC BY-SA 3.0

Auscultatory findings

  • Diastolic murmur (p.m. in the left parasternal 2nd ICS)
  • Widely split 2nd heart sound

Etiology

  • Altered valvular morphology (e.g., endocarditis due to intravenous drug abuse)
  • Dilated ventricle
  • Relative pulmonary insufficiency in pulmonary hypertonia

Clinical manifestations

  • Signs of right cardiac insufficiency
  • Venous congestion
  • Hepato- or splenomegaly
  • Gastrointestinal disorders
  • Fatigue
  • Ascites
  • Edema

Unique features

Definitive diagnosis of pulmonary valve insufficiency is established via echocardiography. The pulmonary main stem is dilated.

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