Echocardiography & Echocardiography & Sudden DeathSudden Death

in Young Athletesin Young AthletesBYBY

Ragab Abdelsalam Ragab Abdelsalam (MD)(MD)

Prof. of CardiologyProf. of Cardiology

EchocardiogramEchocardiogram plays plays an important role in the an important role in the diagnosis of diagnosis of cardiovascular disorders cardiovascular disorders that may predispose that may predispose young athletes to sudden young athletes to sudden death death (SD)(SD) during sports- during sports-related activitiesrelated activities . .

With this technique, With this technique, abnormalitiesabnormalities involving the involving the myocardiummyocardium,,

aorta and cardiac valves can aorta and cardiac valves can be detected and to be be detected and to be followed in their progression followed in their progression through time that may through time that may preclude safe participation in preclude safe participation in sportssports

As an exampleAs an example, the , the athlete'sathlete's heart heart hypertrophy, which is a hypertrophy, which is a benign and physiological benign and physiological adaptation to physical adaptation to physical training, can be training, can be differentiated from the differentiated from the pathologic hypertrophy pathologic hypertrophy represented by therepresented by the

Hypertrophic Hypertrophic Cardiomyopathy (HCMCardiomyopathy (HCM),),

** a genetic origin disease a genetic origin disease associated with SD in young associated with SD in young athletes. athletes.

Although echocardiography is Although echocardiography is widely used by modern medicine, widely used by modern medicine, echocardiographic screening to echocardiographic screening to identify young athletes at risk for identify young athletes at risk for SD remains controversialSD remains controversial

ATHLETE`S HEARTATHLETE`S HEART

CharacteristicsCharacteristics The adaptationThe adaptation of the human heart of the human heart

to physical conditioning, has been to physical conditioning, has been a topic of medical and scientific a topic of medical and scientific interest since a century ago, when interest since a century ago, when Henschen, a Swedish clinician, Henschen, a Swedish clinician, noted in 1899 ,a heart noted in 1899 ,a heart enlargement in "cross-country" enlargement in "cross-country" skiers, using heart percussion and skiers, using heart percussion and becoming the first researcher in becoming the first researcher in describing the "athlete's heart". describing the "athlete's heart".

Later Later on, the knowledge of the on, the knowledge of the cardiac adaptations to cardiac adaptations to training advanced due to the training advanced due to the advent of radiography and advent of radiography and ECG; but it was the ECG; but it was the introduction of introduction of echocardiography in the '70s echocardiography in the '70s that produced a new and that produced a new and important impulse in this important impulse in this researching arearesearching area. .

The M- mode, Two-dimensional The M- mode, Two-dimensional and Doppler echocardiogram,and Doppler echocardiogram, have been used by numerous have been used by numerous authors to study the CV authors to study the CV modifications produced by modifications produced by long-term and high intensity long-term and high intensity physical training. physical training.

An enlargementAn enlargement of the of the ventricular cavities, a ventricular cavities, a thickness of the ventricular thickness of the ventricular walls as well as an walls as well as an increase of the left increase of the left ventricular mass have ventricular mass have been described in athletesbeen described in athletes

These anatomical findings, These anatomical findings, have been explained by have been explained by different theories, :different theories, :

>some related to physical >some related to physical training, like haemodynamic training, like haemodynamic overload overload

endocrine factors, endocrine factors, others not related to training, others not related to training,

like genetic and/or like genetic and/or environmental influenceenvironmental influence

** The greater ventricularThe greater ventricular walls thickness is discretewalls thickness is discrete , , but in some athletes this but in some athletes this thickness can be significantly thickness can be significantly greater, creating problems in greater, creating problems in the differential diagnosis the differential diagnosis between the athlete's between the athlete's physiological physiological hypertrophy hypertrophy and the HCMand the HCM

This differentialThis differential diagnosis is important, diagnosis is important, because it is probably because it is probably one of the most frequent one of the most frequent

causes ofcauses of SD SD in in athletes younger than athletes younger than

35 years35 years

* The percentage* The percentage of athletes of athletes with ventricular walls with ventricular walls thickness (LVW) compatible thickness (LVW) compatible with HCM >13 mm was with HCM >13 mm was almost the12% of the studied almost the12% of the studied population. population.

* Of this* Of this group the greater group the greater LVW of 18mm corresponded LVW of 18mm corresponded to two athletes, a soccer to two athletes, a soccer player and a volleyball player player and a volleyball player

It wasIt was also observed also observed that most of the athletes that most of the athletes of this group belonged of this group belonged predominantly to predominantly to dynamic or aerobic-type dynamic or aerobic-type sports disciplines. sports disciplines.

* It was* It was suggested that suggested that women increase the LVW women increase the LVW thickness to a lesser thickness to a lesser degree that men in degree that men in response to physical response to physical trainingtraining

** genetic** genetic and hormonal and hormonal sex-related factors may be sex-related factors may be the cause. the cause.

Short Axis View ( Papillary M. Level)

It was observedIt was observed if the if the LVW of > 13 mm thickness LVW of > 13 mm thickness & a left ventricular cavity & a left ventricular cavity enlarged with a mean enlarged with a mean 53±5 mm (range from 43 53±5 mm (range from 43 to 66), suggesting a to 66), suggesting a hemodynamic overloadhemodynamic overload effect imposed by physical effect imposed by physical training. training.

AA small left ventricularsmall left ventricular diameter is a frequently diameter is a frequently found in HCM.found in HCM.

>Although>Although it was observed it was observed in some athletes with in some athletes with physiologic hypertrophy, physiologic hypertrophy, a same or smaller a same or smaller diameter than diameter than 45mm45mm

*Therefore*Therefore the differential the differential diagnosis between the diagnosis between the athlete's hypertrophy and athlete's hypertrophy and HCM based on the left HCM based on the left ventricle diameter (LV), ventricle diameter (LV), is is suggestivesuggestive but not but not decisivedecisive of such pathology. of such pathology.

* The maximum* The maximum thickness of thickness of the LVW was found in the the LVW was found in the anterior and posterior region anterior and posterior region of the LV , IVS.of the LV , IVS.

* lateral* lateral and posterior walls of and posterior walls of smaller thickness, smaller thickness, homogeneous and they did homogeneous and they did not present asymmetry, not present asymmetry,

It is highlightingIt is highlighting that all that all athletes were completely athletes were completely healthy, without HCM healthy, without HCM antecedents, or SD in their antecedents, or SD in their relatives relatives

HYPERTROPHIC HYPERTROPHIC CARDIOMYOPATHCARDIOMYOPATH

YY

CharacteristicsCharacteristics * HCM* HCM is a dominant autosomic is a dominant autosomic

genetic disease, clinically genetic disease, clinically heterogeneous and its prevalence in heterogeneous and its prevalence in the general population is very low of the general population is very low of 0.2% 0.2%

* It is* It is characterized by LVH, characterized by LVH, predominantly of the IVS in absence predominantly of the IVS in absence to other hypertrophy causes like high to other hypertrophy causes like high blood pressure or valve pathologiesblood pressure or valve pathologies

*The histopathology*The histopathology study study shows its main characteristic shows its main characteristic which is a pronounced which is a pronounced myofibrils disorganization. myofibrils disorganization.

*These are*These are abnormally short and abnormally short and wide, they extend in different wide, they extend in different directions, and show abnormal directions, and show abnormal bridges between the fibers with bridges between the fibers with abnormal cellular contacts, abnormal cellular contacts, forming spiralsforming spirals

** MyocitesMyocites are hypertrophic are hypertrophic with hyperchromatic and with hyperchromatic and bizarre nucleouses.bizarre nucleouses.

* Interstitial* Interstitial fibrosis and fibrosis and abnormal thickness of the abnormal thickness of the coronary intramural walls coronary intramural walls are also observedare also observed

. .

The natural historyThe natural history of this of this disease is characterized by disease is characterized by a pronounced anatomic-a pronounced anatomic-functional diversity, and functional diversity, and presents itself in a mild or presents itself in a mild or massive, focal or diffuse, massive, focal or diffuse, concentric or asymmetric concentric or asymmetric way. way.

> Similarly the clinical> Similarly the clinical manifestations or the natural manifestations or the natural disease history varies in the disease history varies in the affected individuals.affected individuals.

>It may also elapse>It may also elapse without without signs or symptoms, in these signs or symptoms, in these individuals the diagnosis is individuals the diagnosis is carried out in a routine carried out in a routine medical exammedical exam

* Many affected* Many affected individuals refer individuals refer dyspnea or angina, symptoms that dyspnea or angina, symptoms that slowly progress through time. slowly progress through time.

* Palpitations* Palpitations are common and are common and may announce an AF development may announce an AF development or SD that may occur in or SD that may occur in asymptomatic patients or with little asymptomatic patients or with little symptomatology. symptomatology.

* Heart failure* Heart failure and embolic events and embolic events may contribute to a premature may contribute to a premature morbi-mortalitymorbi-mortality

• Echocardiographic findingsEchocardiographic findings > HCM> HCM should be diagnosed as should be diagnosed as obstructive or nonobstructive for all obstructive or nonobstructive for all patientspatients identified with this identified with this disorderdisorder. .

> LVOT> LVOT obstruction in HCM typically obstruction in HCM typically occurs as a result of systolic anterior occurs as a result of systolic anterior motion of the mitral valve (SAM) or motion of the mitral valve (SAM) or chordae and a narrowing of thechordae and a narrowing of the LV LV outflow tractoutflow tract

The mechanismThe mechanism LV outflowLV outflow tract obstruction is related tract obstruction is related

to the Venturi effect.to the Venturi effect. Accelerated Accelerated flow in theflow in the LV outflow LV outflow

tract results in a suction effect in tract results in a suction effect in which a portion of the mitral which a portion of the mitral apparatus is drawn into this region apparatus is drawn into this region

Classification of patientsClassification of patients with nonobstructive HCM with nonobstructive HCM requires that a provocative requires that a provocative maneuver be previously maneuver be previously performed such as exercise, performed such as exercise, isoproterenol or amyl nitrate isoproterenol or amyl nitrate inhalation. maneuvers inhalation. maneuvers

*These maneuvers*These maneuvers should be performed if the should be performed if the LVOT is narrow in LVOT is narrow in combination with a combination with a significant hypertrophy of significant hypertrophy of the proximal septum the proximal septum

or an elongatedor an elongated mitral mitral leaflet. leaflet.

Stress-echo Stress-echo is helpful in is helpful in detecting LVOT obstruction in detecting LVOT obstruction in patients who have little or non patients who have little or non obstruction of the outflow tract obstruction of the outflow tract in rest. in rest.

The high incidenceThe high incidence of reported of reported nonobstructive HCM may be nonobstructive HCM may be the result of patients not the result of patients not evaluated with provocative evaluated with provocative obstructionobstruction

Parasternal LAX View ( Marked septal hypertrophy)

*LVOT obstruction*LVOT obstruction may may produce (MR) in many produce (MR) in many patients with HCM where MR patients with HCM where MR is caused by lack of leaflet is caused by lack of leaflet coaptation as a result of their coaptation as a result of their anterior motion. anterior motion.

*In many*In many patients both patients both leaflets are involved in the leaflets are involved in the SAM, but they may also be SAM, but they may also be one or another. one or another.

* Variability* Variability of the valves of the valves length and mobility may lead length and mobility may lead to an unequal coaptation, to an unequal coaptation, therefore to vary the MR therefore to vary the MR degrees . degrees .

* The severity* The severity of MR is of MR is estimated though color flow estimated though color flow Doppler. Doppler.

* MR jet* MR jet is frequently directed is frequently directed postero laterally postero laterally

*The outflow tract *The outflow tract gradientgradient (p) is calculated (p) is calculated using continuous Doppler using continuous Doppler imaging, converting the imaging, converting the flow velocity (v) in meters flow velocity (v) in meters per second to mmHg using per second to mmHg using the modified Bernoulli`s the modified Bernoulli`s equation equation (P = 4v2)(P = 4v2)

Care mustCare must be taken to assure be taken to assure that the continuous Doppler that the continuous Doppler imaging measures the outflow imaging measures the outflow tract velocity and not of the tract velocity and not of the MR. Color Doppler imaging the MR. Color Doppler imaging the time and the shape of time and the shape of continuous Doppler help to continuous Doppler help to differentiate both flowsdifferentiate both flows

*The diastolic function in *The diastolic function in HCM is frequently abnormal HCM is frequently abnormal

*This is produced by altered *This is produced by altered relaxation and arelaxation and a LV rigidity LV rigidity increase.increase.

* Significant degrees* Significant degrees of of MR may mask the MR may mask the abnormal filling in some abnormal filling in some patients by LA elevation patients by LA elevation pressure and pseudo pressure and pseudo normalization of the mitral normalization of the mitral flow patternsflow patterns

* HCM* HCM is associated with is associated with decrease compliance, decrease compliance, therefore, there is an therefore, there is an abnormal increment of the abnormal increment of the LV pressure for a given LV pressure for a given ventricular volume level. ventricular volume level.

**These findings areThese findings are echocardiographically echocardiographically reflected by a high amplitude reflected by a high amplitude and prolonged duration of the and prolonged duration of the pulmonary veins flow pulmonary veins flow compared to A mitral wave compared to A mitral wave durationduration . .

AlthoughAlthough it is clear that it is clear that there are abnormalities of there are abnormalities of the diastolic filling, the diastolic filling, there there is nois no a good correlation a good correlation between thebetween the LV filling LV filling measured by Doppler and measured by Doppler and thethe LV structureLV structure

*The main*The main difficulty is to difficulty is to distinguish between the distinguish between the athlete'sathlete's physiologic physiologic hypertrophy and the hypertrophy and the HCM,HCM, since this disorder since this disorder causes causes SDSD in young in young athletes. athletes.

* The proposed a * The proposed a strategystrategy to distinguish to distinguish HCM from athlete's heart HCM from athlete's heart when the LVW thickness is when the LVW thickness is in in a gray zonea gray zone (13 to 15 (13 to 15 mm) compatible with mm) compatible with both both diagnoses :diagnoses :

* Thickness of the left ventricular * Thickness of the left ventricular wallswalls: :

>In most athletes>In most athletes, the LVW absolute , the LVW absolute thickness value is within the normal thickness value is within the normal limits limits (< 12mm). (< 12mm).

>In some athletes>In some athletes; however, this ; however, this thickness may be greater, between thickness may be greater, between (13-15 mm),(13-15 mm), suspecting a HCM. suspecting a HCM.

*In patient with HCM*In patient with HCM the the increase of the LVW increase of the LVW thickness is significantly thickness is significantly greater, the mean value greater, the mean value reported by different reported by different studies of this disease is studies of this disease is around around 20mm20mm and and reaching reaching 60mm.60mm.

* Nevertheless* Nevertheless an an important group of important group of patients with patients with HCM HCM show a show a mild mild LVWLVW hypertrophy with hypertrophy with a thickness in the range of a thickness in the range of 13 to15 mm,13 to15 mm, and most of and most of them are them are asymptomaticasymptomatic

*Therefore a diagnostic*Therefore a diagnostic dilemma may emerge in dilemma may emerge in those patients that fall in those patients that fall in this this "gray zone""gray zone" between between physiologic hypertrophy physiologic hypertrophy and HCM with a LVW and HCM with a LVW thickness in the range of thickness in the range of 13 to 1513 to 15 mm mm]]

*In highly trained athletes*In highly trained athletes, ,

>the thickness>the thickness prevalence , prevalence , always implies the anterior always implies the anterior septum, even though the septum, even though the increased thickness on other increased thickness on other segments of the wall is similar, segments of the wall is similar, with a difference of with a difference of 1 to 2mm1 to 2mm. .

>In patient>In patient with HCM, the with HCM, the anterior septum is always the anterior septum is always the most hypertrophic segment, most hypertrophic segment,

• HoweverHowever the hypertrophy the hypertrophy pattern is frequently pattern is frequently heterogeneous, asymmetric heterogeneous, asymmetric and occasionally it may and occasionally it may present itself with greater present itself with greater hypertrophy in other walls hypertrophy in other walls and in lesser degree in the and in lesser degree in the septum. septum.

• In summaryIn summary the the LV LV contiguous walls, show contiguous walls, show different hypertrophy different hypertrophy degrees, and the degrees, and the transition between those transition between those areas is abrupt areas is abrupt

HCM diagnosisHCM diagnosis • Is echocardiographicallyIs echocardiographically based based

on the hypertrophy on the hypertrophy magnitude, quantifying the magnitude, quantifying the thickness of a LVW segment. thickness of a LVW segment.

• Be on theBe on the alert that, in alert that, in doubtful cases, such doubtful cases, such circumstances represent a circumstances represent a fertile field of the disease fertile field of the disease overdiagnosis. overdiagnosis.

* Since the hypertrophy* Since the hypertrophy increment occurs during increment occurs during adolescence in patients with adolescence in patients with HCM, young athletes with this HCM, young athletes with this disease disease (<16 years)(<16 years) may not may not present the maximum present the maximum hypertrophy expression until hypertrophy expression until they reach the top physical they reach the top physical development and maturation development and maturation

*Therefore*Therefore • an athletean athlete with HCM, may with HCM, may

be initially evaluated and be initially evaluated and echocardiographically echocardiographically submit a mild hypertrophy submit a mild hypertrophy

• or to beor to be in the normal in the normal ranges, difficulting the ranges, difficulting the differential diagnosis with differential diagnosis with athlete's heart. athlete's heart.

• This problem can be This problem can be solved:solved:

> if serial> if serial echocardiograms through echocardiograms through time, months or years are time, months or years are performed until the performed until the definitive hypertrophy that definitive hypertrophy that allows to make HCM allows to make HCM diagnosis appearsdiagnosis appears. .

Cavity dimensions of the Cavity dimensions of the left ventricleleft ventricle: :

An increaseAn increase of the left of the left ventricle final diastolic ventricle final diastolic diameter (LVDD) diameter (LVDD) (>55 (>55 mm),mm), is a frequent finding is a frequent finding on athletes, inon athletes, in

*Therefore*Therefore it is possible in some it is possible in some cases to distinguish between cases to distinguish between athlete's heart and HCM, based on athlete's heart and HCM, based on the left ventricular cavity the left ventricular cavity dimension.dimension.

*However*However, in those athletes whose , in those athletes whose ventricular size is not submitted ventricular size is not submitted within these values, the mere within these values, the mere dimension do not solved the dimension do not solved the differential diagnosis differential diagnosis

M-mode of LV ( Septal hypertroph 18mm

&smallLLVDd=40mm)

*Transmitral Doppler*Transmitral Doppler: : >Abnormal diastolic>Abnormal diastolic functions functions

of the left ventricle have been of the left ventricle have been identified in a non invasive identified in a non invasive way with pulsed Doppler way with pulsed Doppler echocardiography echocardiography

> or with radioisotopic> or with radioisotopic angiography, in patients with angiography, in patients with cardiac diseases associated cardiac diseases associated with left ventricle hypertrophy. with left ventricle hypertrophy.

*Many patients*Many patients with HCM, with HCM, including those with mild including those with mild hypertrophy (that may be hypertrophy (that may be confused with athlete's confused with athlete's heart), present abnormal heart), present abnormal Doppler indexes of the Doppler indexes of the diastolic function, diastolic function, independently the presence independently the presence of symptoms or LV outflow of symptoms or LV outflow tract obstruction. tract obstruction.

*The*The early peak velocity early peak velocity of the transmitral of the transmitral inflow is typically inflow is typically reduced reduced

*The*The deceleration deceleration timing of the E wave is timing of the E wave is prolongedprolonged

* The late* The late peak is increased peak is increased ("A" due to atrial contraction),("A" due to atrial contraction),

* The normal* The normal relation E/A is relation E/A is inverted. inverted.

** On the other** On the other hand athletes hand athletes always show normal diastolic always show normal diastolic function patterns. function patterns.

*Therefore *Therefore in a trained athlete in a trained athlete suspected of HCM, abnormal suspected of HCM, abnormal Doppler indexes of the LV Doppler indexes of the LV diastolic function, present this diastolic function, present this diagnosis.diagnosis.

* While* While a normal Doppler pattern a normal Doppler pattern is compatible with both is compatible with both diagnosis, athlete's heart or HCM diagnosis, athlete's heart or HCM Myocardical ultrasonic Myocardical ultrasonic reflectivity. reflectivity.

Diastolic Dysfunction (Relaxation pattern)

* Initial observations suggest that * Initial observations suggest that patient with asymptomatic (or patient with asymptomatic (or with little HCM symptomatology) with little HCM symptomatology) show :show :

> an increase> an increase of the septum of the septum ultrasonic signal intensity and ultrasonic signal intensity and of theof the LV posterior wall LV posterior wall (including patients with mild (including patients with mild and located hypertrophy)and located hypertrophy)

*While highly trained *While highly trained athletes with physiologic athletes with physiologic hypertrophy show:hypertrophy show:

> normal reflectivity> normal reflectivity of the of the myocadical tissue. However it is myocadical tissue. However it is not known for certain that the not known for certain that the differences found between the differences found between the groups may be applied to one groups may be applied to one particular subjectparticular subject

*Type of sport training*Type of sport training: : The specificThe specific nature of the nature of the

athletic training itself has a athletic training itself has a major influence in the type major influence in the type and magnitude of the left and magnitude of the left ventricular dimensions. ventricular dimensions.

>Mostly in dynamic>Mostly in dynamic type sports type sports (>13 mm)(>13 mm)

>The greater>The greater thickness thickness (18 (18 mm),mm), was in a soccer and was in a soccer and volleyball player. volleyball player.

> Conversely> Conversely to weight lifters to weight lifters and judokas, isometric sport and judokas, isometric sport types, the maximum thickness of types, the maximum thickness of the ventricular walls was the ventricular walls was (13 (13 mm)mm)

* Gender* Gender: :

It hasIt has been identified in been identified in athletes, sexual differences, athletes, sexual differences, in relation to modifications in in relation to modifications in the heart's dimensions and the heart's dimensions and left ventricular mass. left ventricular mass.

These observationsThese observations suggest that in those suggest that in those women women athletes with athletes with ventricular walls thickness ventricular walls thickness > 13mm> 13mm (with normal or (with normal or small left ventricular cavity) small left ventricular cavity)

>>>HCM>>>HCM is suspected. is suspected.

Regression of left ventricular Regression of left ventricular hypertrophy with hypertrophy with deconditioningdeconditioning ::

It hasIt has been observed in been observed in athletes that deconditioning athletes that deconditioning decreasesdecreases

> the ventricular cavity. > the ventricular cavity.

> the ventricular walls > the ventricular walls thickness.thickness.

In the pathologicalIn the pathological forms forms of ventricular hypertrophy of ventricular hypertrophy as HCM, the physical as HCM, the physical deconditioning does not deconditioning does not produce changes on the produce changes on the left ventricularleft ventricular walls walls thickness. thickness.

Identification ofIdentification of such changes such changes on the ventricular walls thickness on the ventricular walls thickness of the left ventricle requires of the left ventricle requires along with the physical along with the physical deconditioning, an adherence deconditioning, an adherence and motivation so that the and motivation so that the athlete suspends the physical athlete suspends the physical training and serial training and serial echocardiographic studies of echocardiographic studies of optimum technical qualityoptimum technical quality

ARRHYTHMOGENIC ARRHYTHMOGENIC RIGHT RIGHT

VENTRICULAR VENTRICULAR DYSPLASIADYSPLASIA

CharacteristicsCharacteristics *It is*It is an autosomic an autosomic dominant genetic dominant genetic origin cardiomyopathy. origin cardiomyopathy.

*It has*It has been described been described as a cause of SD.as a cause of SD.

Ventricular arrhythmiasVentricular arrhythmias were detected in most of were detected in most of them. them. Echocardiographically the Echocardiographically the disease diagnosis is disease diagnosis is possible but requires an possible but requires an appropriate knowledge appropriate knowledge and specific searchand specific search

The echocardiograpyicThe echocardiograpyic signs of the signs of the Arrhythmogenic Right Arrhythmogenic Right Ventricle Dysplasia Ventricle Dysplasia (ARVD) reflect the (ARVD) reflect the pathological process of pathological process of adipose and fibrous adipose and fibrous infiltration of the infiltration of the myocardium. myocardium.

Frequently Frequently affecting affecting the right ventricle the right ventricle outflow tract (anterior outflow tract (anterior infundibulum), the apex infundibulum), the apex and the infero-basal and the infero-basal wall, this anatomical wall, this anatomical area has been denoted area has been denoted the triangle of dysplasiathe triangle of dysplasia

Other diagnostic methods Other diagnostic methods that have been used for that have been used for the recognition of this the recognition of this diseasedisease are: are:

> magnetic resonance, > magnetic resonance, cardiac radionuclear, cardiac radionuclear, contrast venticulography and contrast venticulography and myocardical biopsy, myocardical biopsy,

Echocardiographic Echocardiographic findingsfindings

The echocardiographic The echocardiographic sensitivity to the detection of sensitivity to the detection of the ARVD varies and the ARVD varies and depends depends on on > clinical history, > clinical history,

> disease prevalence in the > disease prevalence in the studied population, studied population,

>disease stage >disease stage > the quality of the obtained > the quality of the obtained

images. images.

•DilatationDilatation of right of right ventricle with hypokinesis ventricle with hypokinesis occurs in most patients occurs in most patients with ARVD.with ARVD.

• HoweverHowever a normal a normal echocardiogram does not echocardiogram does not exclude the diagnosisexclude the diagnosis

It shouldIt should be kept in mind that the be kept in mind that the right ventricle enlargement and right ventricle enlargement and dysfunction is more frequently dysfunction is more frequently due to other cardiac and due to other cardiac and pulmonary diseases and not to pulmonary diseases and not to ARVD. ARVD.

Therefore Therefore the echocardiography the echocardiography specificity for the diagnosis of specificity for the diagnosis of this disease is low in unselected this disease is low in unselected populationspopulations. .

Enlargement Enlargement of the right of the right ventricle (RV) and wall ventricle (RV) and wall motion abnormalities, in a motion abnormalities, in a focal or diffuse way is the focal or diffuse way is the most common most common echocardiographic profile echocardiographic profile suggesting the suggesting the ARVD ARVD diagnosis. diagnosis.

*The most typically *The most typically enlarged segments are: enlarged segments are:

The inflow tract The inflow tract (parasternal short axis), (parasternal short axis), outflow tract (parasternal outflow tract (parasternal long axis), and RV body long axis), and RV body (apical of 4 chambers)(apical of 4 chambers)

* The RV outflow * The RV outflow tract is the tract is the most frequently affected region most frequently affected region RV function may be reduced to RV function may be reduced to normal at rest but it decreases normal at rest but it decreases with exercise with exercise

* Regional or diffuse* Regional or diffuse hypokinesis may vary from mild hypokinesis may vary from mild to severe and diskinesis or to severe and diskinesis or akinesis segments may also akinesis segments may also occur. occur.

Follow-upFollow-up studies of studies of patients with ARVD patients with ARVD showed enlargement and showed enlargement and progressive dysfunction progressive dysfunction through time through time

The pathognomonicThe pathognomonic findings of ARVD are findings of ARVD are aneurysms or aneurysms or sacculations of the sacculations of the RV free wall (triangle RV free wall (triangle of dysplasia). of dysplasia).

* These* These segments may be segments may be single or multiple and single or multiple and represent the infiltration and represent the infiltration and thinning of myocardium in thinning of myocardium in those regions.those regions.

* RV prominent* RV prominent and irregular and irregular trabeculations may also be trabeculations may also be observed and the moderator observed and the moderator band may be more evidentband may be more evident

ARVD : Aneurysmally dilated RV tip.

Doppler examDoppler exam of the of the tricuspid valve may show tricuspid valve may show an inversion of the E/A an inversion of the E/A relationship representing relationship representing the RV diastolic the RV diastolic dysfunctiondysfunction

* A premature* A premature pulmonary pulmonary valve opening with an valve opening with an abnormal diastolic flow has abnormal diastolic flow has also been observed.also been observed.

* Although* Although this is not a this is not a disease- specific finding its disease- specific finding its presence suggests this presence suggests this diagnosisdiagnosis

* Even though ARVD* Even though ARVD is a cardiomyopathy is a cardiomyopathy that affects the right that affects the right side, echocardiographic side, echocardiographic studies demonstrated studies demonstrated abnormalities in the left abnormalities in the left side. side.

Associated Associated to the left to the left ventricle enlargement it is ventricle enlargement it is observed a diffuse or focal observed a diffuse or focal wall dysfunction similar to wall dysfunction similar to RV that may be RV that may be progressive in natureprogressive in nature Left Left V dysfunction may be best V dysfunction may be best evidenced with exerciseevidenced with exercise

Echocardiography isEchocardiography is an an effective tool for diagnosis effective tool for diagnosis despite its following despite its following limitations,:limitations,:

> sub-optimal images,> sub-optimal images, >irregular shape of right >irregular shape of right ventricle ventricle

> lack of echocardiographic > lack of echocardiographic standard criteria. standard criteria.

MARFAN SYNDROMEMARFAN SYNDROME CharacteristicsCharacteristics

* Marfan syndrome * Marfan syndrome (MS)(MS) is caused by a genetic flaw is caused by a genetic flaw that produces an that produces an abnormality on the abnormality on the connective body tissue. connective body tissue.

*This disease*This disease may occur may occur as a result of spontaneous as a result of spontaneous mutation.mutation.

* It may* It may affect several affect several organic systems such as organic systems such as skeletal, lungs, eyes, heart skeletal, lungs, eyes, heart and blood vesselsand blood vessels

* The most* The most noticeable noticeable physical sign is high physical sign is high stature and long stature and long extremities.extremities.

* Ironically* Ironically these physical these physical characteristics for sports characteristics for sports such as basketball and such as basketball and volleyballvolleyball

Are idealisticallyAre idealistically consideredconsidered Cardiovascular Cardiovascular involvement produces involvement produces aortic dilatation and aortic dilatation and mitral valve prolapse in mitral valve prolapse in most patients. most patients.

*Abnormalities*Abnormalities of the fibrillin of of the fibrillin of the aorta connective tissue and the aorta connective tissue and the valves myxomatous the valves myxomatous degeneration constitute the degeneration constitute the anatomic-pathological processes anatomic-pathological processes in this disease . in this disease .

*The natural*The natural history of this history of this syndrome leads to an ascending syndrome leads to an ascending aortic dilatation and the risk of aortic dilatation and the risk of aortic dissection, rupture and SDaortic dissection, rupture and SD

Echocardiographics FindingsEchocardiographics Findings

EchocardiographyEchocardiography is useful in is useful in the evaluation of the aortic the evaluation of the aortic valve and proximal ascending valve and proximal ascending aorta the most commonly aorta the most commonly affected places by MSaffected places by MS

* The evaluation* The evaluation of the of the aortic valve should be aortic valve should be centered in:centered in:

> the detection of aortic > the detection of aortic insufficiency insufficiency

> the secondary effects > the secondary effects on the left ventricle on the left ventricle enlargement. enlargement.

Study of the aorta should Study of the aorta should include besidesinclude besides echocardiographic standard echocardiographic standard views, parasternal left region, views, parasternal left region, right parasternal (ascending right parasternal (ascending aorta) and suprasternal notch aorta) and suprasternal notch (aortic arch). (aortic arch).

Additional windowsAdditional windows for the for the visualization of the visualization of the descending aorta (modified descending aorta (modified apical and subcostal) may apical and subcostal) may also be used, although these also be used, although these segments of the aorta are segments of the aorta are less affected by theless affected by the MSMS. .

Measurements Measurements of the aortic of the aortic dimensions at the aortic dimensions at the aortic annulus level, sinuses of annulus level, sinuses of Valsalva, sinotubular junction Valsalva, sinotubular junction and ascending aorta should and ascending aorta should be performed on individuals be performed on individuals undergoing screening for undergoing screening for aortic pathologies. aortic pathologies.

* Standardized* Standardized criteria have been criteria have been described to measure the size of the described to measure the size of the aorta with M- mode and 2D aorta with M- mode and 2D echocardiography. echocardiography.

* * These measuresThese measures should be should be adjusted to age and corporal size.adjusted to age and corporal size.

* Applications* Applications of these corporal of these corporal indexes for the correction of the indexes for the correction of the aortic measures are useful to aortic measures are useful to evaluate athletes of tall stature that evaluate athletes of tall stature that may be affected by this diseasemay be affected by this disease

Aortic enlargementAortic enlargement is the most is the most common finding of MS acquiring common finding of MS acquiring

the shape of the shape of "onion bulb""onion bulb"

>This represents a >This represents a malformation with aortic malformation with aortic annulus dilatation, sinuses of annulus dilatation, sinuses of Valsalva and proximal Valsalva and proximal ascending aorta. ascending aorta.

DisappearanceDisappearance of the of the sinotubular junction may sinotubular junction may occur with or without occur with or without aortic dilatation and it aortic dilatation and it may be the only sign of may be the only sign of this pathologythis pathology

* Progression* Progression of aortic dilatation of aortic dilatation leads to aortic regurgitation and leads to aortic regurgitation and risk of dissection or aortic risk of dissection or aortic rupture.rupture.

* Aortic regurgitation* Aortic regurgitation may may occur when the aortic dimension occur when the aortic dimension exceeds exceeds 50mm50mm and the and the dissection risk for rupture is high dissection risk for rupture is high when the dimensions are when the dimensions are greater than greater than 60mm . 60mm .

When aortic regurgitationWhen aortic regurgitation occurs without aortical occurs without aortical enlargement, an enlargement, an aortic aortic dissectiondissection should be suspected should be suspected and investigations with and investigations with transesophageal transesophageal echocardiography or other echocardiography or other techniques should be performed.techniques should be performed.

A significant variation A significant variation exists in the aortic exists in the aortic enlargement in patients enlargement in patients with MSwith MS

Aortic dissectionAortic dissection may occur may occur even with a mild dilatation. even with a mild dilatation.

Clinical or echocardiographicClinical or echocardiographic predictors of the aortic dilatation predictors of the aortic dilatation evolution are not well-known . evolution are not well-known .

*Therefore*Therefore echocardiographic follow-echocardiographic follow-ups should be conducted ups should be conducted from every from every 3 months3 months to to 1 1 yearyear . .

* Decisions* Decisions to the athlete's to the athlete's competitive participation competitive participation depend on these measures depend on these measures and clinical criteria. and clinical criteria.

Marfan,s syndrome : (Classic Onion Bulb Shape)

Because MSBecause MS affects affects the connective tissue, the connective tissue, valvular insufficiencies valvular insufficiencies as prolapse of the mitral as prolapse of the mitral valve and/or tricuspid valve and/or tricuspid and aortic regurgitation and aortic regurgitation are manifested are manifested

It has been observed that It has been observed that mitral regurgitationmitral regurgitation occurs as occurs as a result of mitral valve prolapse a result of mitral valve prolapse with elongation of the chordaes with elongation of the chordaes and leaflets or as a result of and leaflets or as a result of annulus dilatation, produced by annulus dilatation, produced by left ventricular enlargement, left ventricular enlargement, secondary to an aortic secondary to an aortic regurgitationregurgitation

Recognition of aorticRecognition of aortic dissection in patient with dissection in patient with MS is sometimes difficult MS is sometimes difficult due to the transthoracic due to the transthoracic echocardiographic limits echocardiographic limits to detect its presence, to detect its presence, localization and localization and extension. extension.

For this reasonFor this reason

the transesophageal the transesophageal echocardiographies as echocardiographies as well as other techniques well as other techniques have greater sensitivityhave greater sensitivity

CONGENITAL CONGENITAL ANOMALIES OF THE ANOMALIES OF THE CORONARY ARTERYCORONARY ARTERY

CharacteristicCharacteristic * This disease* This disease is another is another cause of SD in young cause of SD in young athletes and it can be athletes and it can be presented in different ways. presented in different ways.

* The most* The most common is an common is an abnormal origin of the left abnormal origin of the left coronary left artery of the coronary left artery of the right sinus of Valsalva. right sinus of Valsalva.

* As a consequence* As a consequence the the abnormal coronary artery abnormal coronary artery emerges from the aorta with an emerges from the aorta with an acute angle and also runs acute angle and also runs between the aorta and the between the aorta and the pulmonary trunk.pulmonary trunk.

**These alterationsThese alterations during during physical effort may decrease physical effort may decrease the coronary flow producing the coronary flow producing angina, arrhythmia and SDangina, arrhythmia and SD

Other anomalies of the Other anomalies of the coronary arteries are :coronary arteries are :

• HypoplasiaHypoplasia of the right of the right coronary artery coronary artery

• The leftThe left circumflex artery, circumflex artery, • OriginOrigin of the right coronary of the right coronary

artery in the left coronary sinusartery in the left coronary sinus• CompleteComplete absence of the left absence of the left

coronary arterycoronary artery

* Another cause* Another cause of SD attributable of SD attributable to congenital anomalies of the to congenital anomalies of the coronary arteries may occur as a coronary arteries may occur as a result of a myocardial bridge. result of a myocardial bridge.

*This occurs*This occurs when a major coronary when a major coronary artery tunneled or is completely artery tunneled or is completely surrounded by a myocardial sheath surrounded by a myocardial sheath encircling the intramural coronary encircling the intramural coronary segment in a portion of its course. segment in a portion of its course.

As a resultAs a result of this of this constriction the constriction the coronary flow is coronary flow is restricted and may restricted and may produce angina and produce angina and in some cases SDin some cases SD

Echocardiographic Echocardiographic FindingsFindings

* The coronary anatomy can be * The coronary anatomy can be studied through studied through ECHO.ECHO.

* The anatomy of the main * The anatomy of the main epicardial branches of the two epicardial branches of the two coronary arteries can be coronary arteries can be visualizedvisualized

This visualization particularly This visualization particularly favours athletes of aerobic favours athletes of aerobic resistance for different resistance for different reasons:reasons:

> optimum> optimum thoracic thoracic conformation, conformation,

> cardiac> cardiac enlargement that enlargement that brings the heart near to the brings the heart near to the thoracic wall, thoracic wall,

> prolonged> prolonged diastolic diastolic duration due to duration due to bradycardia bradycardia

> increase> increase of the of the coronary arteries caliber coronary arteries caliber due to trainingdue to training

The ostium of the left and right The ostium of the left and right coronary trunk may be visualized coronary trunk may be visualized in the plane of the short in the plane of the short parasternal left axis of the aortic parasternal left axis of the aortic root and with mild transducer root and with mild transducer angulations angulations

it is also possible to observe the it is also possible to observe the bifurcation of the left coronary, the bifurcation of the left coronary, the initial tract of the circumflex artery initial tract of the circumflex artery and the anterior descending arteryand the anterior descending artery

OTHER DISORDERSOTHER DISORDERS

* Echocardiography* Echocardiography can be can be useful in the detection of useful in the detection of other congenital or acquired other congenital or acquired diseases that may produce diseases that may produce SD. SD.

*These*These are coronary artery are coronary artery diseases such as Kawasaki diseases such as Kawasaki disease and atherosclerosis. disease and atherosclerosis.

ALSO Other ALSO Other diseases:diseases:

> Annuloaortic ectasia; > Annuloaortic ectasia; >valvular: such as MVP; >valvular: such as MVP; AS.AS.

> myocarditis such as > myocarditis such as idiopathic > sarcoidosis, idiopathic > sarcoidosis,

> cardiomyopathies such as > cardiomyopathies such as restrictive and dilatedrestrictive and dilated

Some congenitalSome congenital disorders in disorders in young individuals such as young individuals such as valvular AS or DCM such as valvular AS or DCM such as Chagas disease are Chagas disease are precociously detected by precociously detected by their symptomatology and their symptomatology and inability of undergoing inability of undergoing intense physical activity and intense physical activity and they are not cause of they are not cause of frequent SD in athletes. frequent SD in athletes.

These diseasesThese diseases also have also have typical echocardiographic typical echocardiographic characteristics that characteristics that facilitate the diagnosisfacilitate the diagnosis

ECHO SCREENING IN ECHO SCREENING IN YOUNG ATHLETESYOUNG ATHLETES::

* *EchocardiographyEchocardiography is a highly is a highly sensitive and specific test to detect sensitive and specific test to detect congenital or acquired coronary congenital or acquired coronary abnormalities in this populationabnormalities in this population . .

* *Hypertrophic cardiomyopathyHypertrophic cardiomyopathy, , MS MS and valvular disorders are easily and valvular disorders are easily identifiable with echocardiographyidentifiable with echocardiography

But echocardiographicBut echocardiographic screening in big athlete's screening in big athlete's populations remains in populations remains in controversy.controversy.

A groupA group of authors of authors proposed to use proposed to use echocardiography as a echocardiography as a universal method due to universal method due to its short order examination its short order examination and low cost. and low cost.

*They consider*They consider

the clinical history, the clinical history, physical exam and physical exam and ECG are not ECG are not sensitive sensitive enoughenough to detect many to detect many cardiovascular cardiovascular abnormalitiesabnormalities

Other authorsOther authors consider consider that the cost/benefit of the that the cost/benefit of the echocardiography massive echocardiography massive evaluation in athletes is evaluation in athletes is inadequate due to the low inadequate due to the low incidence of these incidence of these diseases in diseases in the general the general population. population.

*It should*It should be be evaluated evaluated 200 thousand athletes to 200 thousand athletes to identify a thousand at risk identify a thousand at risk and to prevent 1 SD and to prevent 1 SD

*besides*besides the need of the need of technicians with expertise technicians with expertise in this areain this area