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leopard syndrome ( ls ) is a rare , multi - systemic , congenital disorder .
a missense mutation in the protein - tyrosine phosphatase nonreceptor type 11 ( ptpn11 ) gene is the key mutation responsible for the development of ls.1)2 ) the diagnosis of this syndrome is based on multiple lentigines with 3 cardinal features.3 ) when lentigines are absent,3 other features in patients with ls are diagnostic . in children or young patients without lentigines ,
ls is diagnosed in the presence of 3 of the following criteria : cardiovascular abnormalities , caf au lait spots , sensorineural deafness , hyptonia or delayed motor development and distinct facial abnormalities such as hypertelorism , downslanting palpebral fissure , palpebral ptosis and ear abnormalities.2 ) the characteristic cardiovascular abnormalities associated with ls are left ventricular hypertrophy ( lvh ) , pulmonary stenosis ( ps ) , electrocardiographic ( ecg ) abnormalities and coronary artery dilatation.4 ) all of these abnormalities may progress with age or be detected later in life than other clinical findings.5 ) therapeutic plans for cardiovascular abnormalities in ls should be aimed at adverse cardiac events secondary to valvular heart disease or lvh . here
we demonstrate a case of ls who had multiple cardiovascular problems and received successful surgical valve replacement and medical treatment .
a 47-year - old korean man presented with palpitations and exertional dyspnea ( new york heart association class iii ) . on physical examination , he was of notably short stature .
1a ) and dermographic lentiginous skin lesions distributed on his right arm and chest ( fig .
an initial 12 lead ecg revealed a sustained ventricular tachycardia ( vt ) that originated from the apical inferoseptal lv wall ( fig .
he was immediately given 150 mg of intravenous amiodarone for 10 minutes and the ecg recovered from vt and demonstrated normal sinus rhythm with right bundle branch block pattern ( fig .
continuous wave ( cw ) doppler revealed a severe form of ps { maximal velocity : 4.2 m / s , pulmonic valve ( pv ) peak pressure gradient : 69.6 mmhg } ( fig .
in addition , the measurement of right ventricular ( rv ) systolic pressure revealed severe ps ( maximal velocity : 4.1 m / s , right atrial pressure : 15 mmhg , rv systolic pressure : 81.9 mmhg ) ( fig . 2c ) .
we planned to perform pv replacement surgery to relieve heart failure symptoms . because he responded well to amiodarone
, we maintained him on oral amiodarone therapy to suppress the vt . on the evaluation of coronary artery abnormalities by cardiac 64-slice multidetector computed tomography ( 64-mdct , aquilion 64 ; toshiba medical systems , tokyo , japan ) ,
the native pv was replaced by use of a 23 mm carpentier - edwards pericardial prosthetic valve . after successful pv replacement , clinical symptoms
nine months later , follow - up echocardiography showed a well - functioning prosthetic pv ( maximal velocity : 1.6 m / s , pv peak pressure gradient : 10.1 mmhg ) ( fig
. 3a ) and improved ps ( maximal velocity : 2.65 m / s , right atrial pressure : 10 mmhg , rv systolic pressure : 38.6 mmhg ) ( fig .
we did a follow - up cardiac 64-mdct scan to evaluate changes in post - stenotic dilatation of the pulmonary trunk after surgery .
pulmonary trunk size had decreased from 45.4 mm to 37.6 mm after pv replacement ( fig .
there has been no recurrence of heart failure symptoms or vt during the past 12 months .
cardiac involvement in patients with ls is usually characterized by lvh , ps and ecg abnormalities . as the cardiac involvement in ls resembles noonan syndrome ,
the differential diagnosis should be made by careful examination.6 ) in the largest published study on ls , lvh was shown to be the most common cardiac abnormality.4 ) asymmetric lvh is more common than apical or concentric hypertrophy .
rv hypertrophy may also accompany lvh and ps in about 30% of patients with ls.7 ) previous studies have reported that the appearance and degree of lvh occurs concomitantly with the first manifestation of multiple lentigenes.8 ) ps is less frequent than lvh in patients with ls .
it can be observed in about 40% of reported cases.5 ) valvular or infundibular ps is a common type of ps in patients with ls .
ecg abnormalities occur in about 75% of ls patients , including lvh or biventricular hypertrophy in 46% of them , often in association with q waves , a prolonged qtc , and repolarization abnormalities.4 ) arrhythmogenic properties of lvh may induce life - threatening vt or other tachyarrhythmic events in this syndrome .
coronary artery dilatation or aneurysm can be detected incidentally by coronary angiography or cardiac 64-mdct .
overall prognosis for ls is primarily determined by the presence and severity of cardiac abnormalities .
long - term prognosis of ls seems benign with only mild cardiac involvement . as in our case
, the patient with lvh and ps may present with significant symptoms and arrhythmic events during follow - up .
several studies suggest that pathologic and clinical findings may be similar in familial hypertrophic cardiomyopathy and lvh associated with ls . because our patient showed a favorable response to oral amiodarone therapy
, we did not insert an implantable cardioverter defibrillator ( icd ) which is recommended for patients with familial hypertrophic cardiomyopathy . also , the patient showed no premature ventricular complex or non - sustained vt on holter monitoring during oral amiodarone maintenance .
if lvh or arrhythmic events are aggravated on follow - up monitoring , we would consider icd implantation for primary prevention against sudden death , even if the patient were asymptomatic .
we experienced a case of ls who had multiple cardiovascular abnormalities including ps and lvh , and received successful surgical and medical treatment .
our clinical report suggests that complete cardiovascular screening in patients with ls may be essential and beneficial to determine ideal medical and surgical therapeutic strategies .
leopard syndrome ( ls ) is a rare hereditary disorder in asian countries . 
 this syndrome consists of multiple systemic abnormalities . 
 in particular , characteristic cardiovascular effects in ls may include variable clinical manifestations from benign to life - threatening courses . 
 the cardiac effects of this syndrome consist of left ventricular hypertrophy ( lvh ) , pulmonary stenosis ( ps ) , coronary artery dilatation and electrocardiogram(ecg ) abnormalities . 
 since there are few ls patients who have undergone a complete cardiovascular evaluation , the nature and clinical prognosis of cardiovascular abnormalities in this syndrome remain uncertain . 
 also , there have been few reports on therapeutic strategies for cardiovascular abnormalities in ls . 
 here we describe a case of ls who presented with multiple cardiovascular problems and underwent successful surgical and medical treatment .