LEOPARD Syndrome: Cardiac Imaging Findings

Hagspiel, Klaus D.; Candinas, R; Hagspiel, H.-J.; Amann, Franz W.

doi:10.2214/ajr.184.3_supplement.01840s21

Cited by 13 publications

(4 citation statements)

References 7 publications

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“…[ 5 ] demonstrated that QPV typically persists in normal function throughout the lifetime. However, pulmonary valve replacement [ 70 , 73 , 86 , 87 ] or pulmonary valvuloplasty [ 71 , 74 ] for QPV regurgitation have been reported. The Ross surgery for the congenital anomaly of the pulmonic valve is unfavorable [ 62 ].…”

Section: Discussionmentioning

confidence: 99%

Quadricuspid Pulmonary Valve: Case Report and the Comparison with Quadricuspid Aortic Valve

Miyake

Inoue

Mushiake

2023

CCR

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Background: Quadricuspid pulmonary valve (QPV) is a rare congenital anomaly. Simple QPV had been mainly diagnosed at the time of autopsy before 2000 and the frequency rates of QPV are approximately 0.02%–0.41%. QPV was initially diagnosed using transthoracic echocardiography (TTE) after 2000 and with contrast computed tomography (CT) or cardiac magnetic resonance imaging (CMR) after 2009. Obtaining the cross-sectional view of the pulmonary valve using TTE is difficult. We aimed to review the papers regarding the incidence, embryology, diagnosis, associated congenital heart anomalies, and prognosis in patients with QPV, and furthermore to compare with those in patients with quadricuspid aortic valve (QAV). Case presentation: We diagnosed QPV with mild stenosis in a 12-month-old infant. With a slight angulation of the transducer superiorly from the left high parasternal short-axis view, a short-axis view of QPV was obtained. Results: In QPV cases diagnosed at autopsy, Hurwitz’s type-b with three equal cusps and one smaller cusp is dominant, whereas Hurwitz’s type-a with four equal cusps is dominant in clinically diagnosed cases. Patients with associated congenital heart anomaly and valvular stenosis are more frequent in patients with QPV than in patients with QAV. Coronary artery anomalies and infectious endocarditis are more frequent in patients with QAV than in patients with QPV. The incidence of PR is more common in type-a QPV than in type-b QPV. There is no difference between type-a QAV and type-b QAV with respect to the incidence of aortic regurgitation (AR). It is assumed that QPV is a risk factor for a Ross operation. However, QPVs have been used as autografts in certain patients. Conclusion: Between QPV and QAV, various differences were found about frequency rates, diagnostic methods, valve morphology, valve function, associated congenital heart diseases, and frequencies of infectious endocarditis.

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Section: Discussionmentioning

confidence: 99%

Quadricuspid Pulmonary Valve: Case Report and the Comparison with Quadricuspid Aortic Valve

Miyake

Inoue

Mushiake

2023

CCR

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“…The association of NS or ML-NS and coronary artery ectasia was described in 18 patients. In Table I we summarized this cohort and their main cardiologic and molecular genetic characteristics [Wong et al, 1990;Nomura et al, 2000;Loukas et al, 2004;Saito et al, 2004;Hagspiel et al, 2005;Purnell et al, 2005;Ucar et al, 2005;Pacileo et al, 2006;Limongelli et al, 2007;Iwasaki et al, 2009;Gulati et al, 2011;Hakim et al, 2013;Fujimoto et al, 2014;Ramaiah et al, 2014]. Molecular genetic studies were performed in six individuals (4 PTPN11 and one KRAS positive mutations and one PTPN11 negative testing) [Pacileo et al, 2006;Limongelli et al, 2007;Fujimoto et al, 2014].…”

Section: Discussionmentioning

confidence: 99%

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Calcagni

Baban

Luca

et al. 2015

American J of Med Genetics Pt A

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Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association.

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“…Aneurysm formation or ectasia of coronary arteries is usually the secondary manifestation of a congenital coronary fistula or, more prevalently, Kawasaki disease; both disorders could be excluded in the present case based on history taking and angiography. A careful search of the 1990–2008 PubMed database identified five reported cases of LS complicated with coronary artery dilatation 2–4 (Table 1). Four of them were recently reported by Limongelli et al 4 .…”

Section: Discussionmentioning

confidence: 99%

Coronary Artery Dilatation in LEOPARD Syndrome. A Child Case and Literature Review

Iwasaki

Horigome

Takahashi-Igari

et al. 2009

Congenital Heart Disease

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LEOPARD syndrome (LS) is a rare inherited disease with multiple somatic abnormalities. LS and Noonan syndrome (NS) share many features, including cardiovascular disorders, and PTPN11 gene mutation is commonly reported in both syndromes. We report a 10‐year‐old male patient who was diagnosed as LS based on typical phenotypes including multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism and deafness. Although the most prevalent cardiovascular abnormalities in LS are pulmonary stenosis and hypertrophic cardiomyopathy, diffuse bilateral dilatation of the coronary arteries was found on angiography in addition to apical hypertrophic cardiomyopathy in the present case. The vessels showed slight increases in diameter on angiography conducted at an interval of 6 years. A literature review identified several case reports describing coronary ectasia in patients with NS as well as LS. Considering both syndromes share the mutation of PTPN11 gene, coronary arterial involvement could be related to the gene aberration and should be screened even if the patient shows no symptoms of ischemic heart disease.

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LEOPARD Syndrome: Cardiac Imaging Findings

Cited by 13 publications

References 7 publications

Quadricuspid Pulmonary Valve: Case Report and the Comparison with Quadricuspid Aortic Valve

Quadricuspid Pulmonary Valve: Case Report and the Comparison with Quadricuspid Aortic Valve

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Coronary Artery Dilatation in LEOPARD Syndrome. A Child Case and Literature Review

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