- Email: [email protected]
Biventricular hypertropic obstructive cardiomyopathy in Noonan syndrome
International Journal of Cardiology 115 (2007) e22 – e23 www.elsevier.com/locate/ijcard
Letter to the Editor
Biventricular hypertropic obstructive cardiomyopathy in Noonan syndrome Arend F.L. Schinkel a,b,⁎, Jeroen Vos b a
Thoraxcenter, Department of Cardiology, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands b Department of Cardiology, Amphia Hospital, Breda, The Netherlands Received 22 March 2006; accepted 15 July 2006 Available online 19 October 2006
1. Introduction Noonan syndrome is, excluding Down syndrome, the most frequent genetic abnormality associated with congenital heart disease [1]. This autosomal dominant inheriting syndrome was initially described in 1968, and is characterized by a typical facies, short stature, and chest deformity. Congenital heart disease, most frequently pulmonary valve stenosis, is common [2]. 2. Case report This simultaneous biventricular ventriculography was obtained in a 54-year-old, mentally retarded woman who presented with progressive dyspnea. Physical examination demonstrated the phenotypic features of Noonan syndrome, signs of heart failure, and a systolic heart murmur. An echocardiogram was suboptimal because of a poor acoustic window, and showed pulmonary stenosis. Left catheterization showed a mid-ventricular pressure gradient, but no pressure gradient over the left ventricular outflow tract. To assess whether the gradient between the right ventricle and pulmonary artery was purely valvular, simultaneous right and left ventriculography was performed (Fig. 1). This demonstrated biventricular hypertrophic obstructive cardiomyopathy, with a markedly increased thickness of the
⁎ Corresponding author. Thoraxcenter, Department of Cardiology, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands. Tel.: +31 10 4639222. E-mail address: [email protected] (A.F.L. Schinkel). 0167-5273/$ - see front matter © 2006 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijcard.2006.07.076
interventricular septum, and mid-ventricular obstruction of the right and left ventricle. The patient was treated with highdose betablockers and verapamil, and her symptoms improved. 3. Discussion Noonan syndrome is associated with congenital heart disease including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%) [2]. Rarely, biventricular hypertrophic obstructive cardiomyopathy has been described in children with Noonan syndrome. Currently, no data are available on the occurrence of this condition in adults. Clinical awareness of Noonan syndrome and related congenital heart disease is important, to avoid delay in clinical management and genetic counseling. References [1] Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968;116:373–80. [2] Marino B, Digilio MC, Toscano A, et al. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703–6.
A.F.L. Schinkel, J. Vos / International Journal of Cardiology 115 (2007) e22–e23
Fig. 1. Simultaneous biventricular ventriculography, demonstrating biventricular hypertrophic obstructive cardiomyopathy, with a markedly increased thickness of the interventricular septum, and mid-ventricular obstruction of the right and left ventricle in a patient with Noonan syndrome. Panel A: enddiastolic. Panel B: end-systolic.
e23
Letter to the Editor
Biventricular hypertropic obstructive cardiomyopathy in Noonan syndrome Arend F.L. Schinkel a,b,⁎, Jeroen Vos b a
Thoraxcenter, Department of Cardiology, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands b Department of Cardiology, Amphia Hospital, Breda, The Netherlands Received 22 March 2006; accepted 15 July 2006 Available online 19 October 2006
1. Introduction Noonan syndrome is, excluding Down syndrome, the most frequent genetic abnormality associated with congenital heart disease [1]. This autosomal dominant inheriting syndrome was initially described in 1968, and is characterized by a typical facies, short stature, and chest deformity. Congenital heart disease, most frequently pulmonary valve stenosis, is common [2]. 2. Case report This simultaneous biventricular ventriculography was obtained in a 54-year-old, mentally retarded woman who presented with progressive dyspnea. Physical examination demonstrated the phenotypic features of Noonan syndrome, signs of heart failure, and a systolic heart murmur. An echocardiogram was suboptimal because of a poor acoustic window, and showed pulmonary stenosis. Left catheterization showed a mid-ventricular pressure gradient, but no pressure gradient over the left ventricular outflow tract. To assess whether the gradient between the right ventricle and pulmonary artery was purely valvular, simultaneous right and left ventriculography was performed (Fig. 1). This demonstrated biventricular hypertrophic obstructive cardiomyopathy, with a markedly increased thickness of the
⁎ Corresponding author. Thoraxcenter, Department of Cardiology, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands. Tel.: +31 10 4639222. E-mail address: [email protected] (A.F.L. Schinkel). 0167-5273/$ - see front matter © 2006 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijcard.2006.07.076
interventricular septum, and mid-ventricular obstruction of the right and left ventricle. The patient was treated with highdose betablockers and verapamil, and her symptoms improved. 3. Discussion Noonan syndrome is associated with congenital heart disease including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%) [2]. Rarely, biventricular hypertrophic obstructive cardiomyopathy has been described in children with Noonan syndrome. Currently, no data are available on the occurrence of this condition in adults. Clinical awareness of Noonan syndrome and related congenital heart disease is important, to avoid delay in clinical management and genetic counseling. References [1] Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968;116:373–80. [2] Marino B, Digilio MC, Toscano A, et al. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703–6.
A.F.L. Schinkel, J. Vos / International Journal of Cardiology 115 (2007) e22–e23
Fig. 1. Simultaneous biventricular ventriculography, demonstrating biventricular hypertrophic obstructive cardiomyopathy, with a markedly increased thickness of the interventricular septum, and mid-ventricular obstruction of the right and left ventricle in a patient with Noonan syndrome. Panel A: enddiastolic. Panel B: end-systolic.
e23