LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

2013 ◽  
Vol 66 (5) ◽  
pp. 350-356 ◽  
Author(s):  
Atilano Carcavilla ◽  
José L. Santomé ◽  
Isabel Pinto ◽  
Jaime Sánchez-Pozo ◽  
Encarna Guillén-Navarro ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome ◽  
Leopard Syndrome

scholarly journals Noonan Syndrome: A Case Report

2018 ◽  
Vol 4 (1) ◽  
pp. 82-87
Author(s):  
Fahad Khan ◽  
Sumaita Waqar ◽  
Noor Ul Ain Jamal ◽  
Asra Saleem
Keyword(s):  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome ◽  
Genetic Disorders ◽  
Treatment Options ◽  
Clinical Findings ◽  
Leopard Syndrome ◽  
Cubitus Valgus ◽  
Cardiovascular Abnormalities ◽  
Valvular Stenosis

The clinical findings and treatment options of cardiovascular abnormalities in a 20-year old male patient with Noonan syndrome are described with literature review. The classical clinical features of Noonan syndrome which were identified included short stature, abnormalities of ear and eye, low posterior hair line, cubitus valgus and webbed neck. The major cardiovascular abnormalities included pulmonary valvular stenosis and hypertrophic cardiomyopathy. A comparison with Leopard syndrome is made and the overlapping features between the two rare genetic disorders are discussed.

scholarly journals LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

2011 ◽  
Vol 4 (1) ◽  
pp. 74 ◽  
Author(s):  
Madhusudan Ganigara ◽  
Atul Prabhu ◽  
RaghvannairSuresh Kumar
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

Noonan Syndrome and Different Morphologic Expressions of Hypertrophic Cardiomyopathy

2012 ◽  
Vol 34 (8) ◽  
pp. 1871-1873 ◽  
Author(s):  
Efrén Martínez-Quintana ◽  
Fayna Rodríguez-González ◽  
Paula Junquera-Rionda
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome

scholarly journals P645 Familial restrictive cardiomyopathy and Noonan"s syndrome: a rare association

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
E Surkova ◽  
A Barradas-Pires ◽  
W Li
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Pulmonary Artery ◽  
Noonan Syndrome ◽  
Genetic Disorder ◽  
Cardiopulmonary Exercise Testing ◽  
Family Members ◽  
Vena Cava ◽  
Systolic Pressure ◽  
Restrictive Cardiomyopathy ◽  
Reversal Flow

Abstract Background Noonan syndrome is a rare genetic disorder. Typical cardiac involvement include pulmonary stenosis and hypertrophic cardiomyopathy. We present the association of Noonan syndrome with familial non-hypertrophic cardiomyopathy with haemodynamic features of restrictive physiology. Case description. A 30-year old male patient presented to the outpatient clinic with clinical symptoms of heart failure which was slowly progressive since age 20. He was found to have features of restrictive cardiomyopathy aged 12 years at the time when his mother was diagnosed with Noonan syndrome and restrictive cardiomyopathy. On examination, his 1st and 2nd heart sounds were normal, however 3rd heart sound was present. Pulse was regular, 75 per minute, BP 110/70 mmHg. Chest was clear and saturation 98%. Echocardiography showed small left ventricle (LV) with preserved ejection fraction (EF), borderline LV wall thickness (10-11 mm), restrictive filling pattern with mitral valve E/A ratio 4.2 and deceleration time 68 ms; dilated both atria; and pulmonary artery systolic pressure of 37 mmHg (Figure, panels A-C; F). Prominent late diastolic reversal flow was noted in hepatic veins (Panel D). LV longitudinal strain was borderline in absolute value (-18%) however demonstrated ‘apical sparing’ pattern (Panel E). The right ventricle was small in size with mild hypertrophy and dynamic function, but normal flow through pulmonary valve. Prominent diastolic reversal flow was also noted in superior vena cava. Cardiac magnetic resonance confirmed echocardiographic findings and additionally demonstrated prominent trabeculations and myocardial crypts in the LV, small pericardial effusion; no signs of amyloidosis, myocardial infarction, infiltration or fibrosis. Right heart catheterisation showed borderline pulmonary hypertension with a mean pressure of 25 mmHg, raised pulmonary artery wedge pressure 18 mmHg, normal pulmonary vascular resistance 1.9 WU, and a ‘square root sign’ (Panel G). Patient underwent cardiopulmonary exercise testing, he stopped after 9 mins of Bruce protocol due to fatigue, reaching the Peak VO2 of 21.1ml/kg/min (49% of predicted value). No ST changes or arrhythmic events were noted. Patient was diagnosed with primary (non-infiltrative) familial restrictive cardiomyopathy and discussed at multidisciplinary team meeting with recommendation of close follow-up for timing for heart transplantation. Meanwhile he was encouraged to continue treatment with ramipril and start regular physical activity. Discussion There are only few reports describing familial non-hypertrophic cardiomyopathy in patients with Noonan syndrome and none in their family members. We review typical clinical and diagnostic features of restrictive cardiomyopathy involving both ventricles and raise awareness of clinicians of primary familial restrictive cardiomyopathy as a possible cardiac manifestation in patients with Noonan syndrome and their immediate family members. Abstract P645 Figure.

scholarly journals LZTR1 -Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features

2020 ◽  
Vol 13 (2) ◽  
Author(s):  
Janda Jenkins ◽  
Aliessa Barnes ◽  
Brian Birnbaum ◽  
John Papagiannis ◽  
Isabelle Thiffault ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome

scholarly journals Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

2019 ◽  
Vol 73 (17) ◽  
pp. 2237-2239 ◽  
Author(s):  
Gregor Andelfinger ◽  
Christopher Marquis ◽  
Marie-Josée Raboisson ◽  
Yves Théoret ◽  
Stephan Waldmüller ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome ◽  
Mek Inhibition
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