Images of Pediatric and Congenital Heart Disease
Apical Hypertrophic Cardiomyopathy in an Infant: First Presentation of Pompe’s Disease
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(3) 491-493 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135114526421 pch.sagepub.com
Soumya Patra, MD1, Anand Subramaniun, DM1, Jayranganath Mahimaiha, DM1, Usha Mandikal Kodanda Rama Sastry, MD1, and Manjunath Cholenahally Nanjappa, DM1
Abstract Pompe’s disease is a type II glycogen storage disorder resulting from deficiency of a-1,4 glucosidase. It is usually associated with dilated or hypertrophic cardiomyopathy. Association of apical hypertrophic cardiomyopathy is rarely seen. We present a case of a ten-month-old baby with clinical features of both apical hypertrophic cardiomyopathy and Pompe’s disease. Keywords apical cardiomyopathy, infantile, Pompe’s disease Submitted November 06, 2013; Accepted February 06, 2014.
A ten-month-old female baby presented with lethargy and feeding difficulty. She was delivered as a first-born child from a normal vaginal delivery after a consanguineous marriage. There was no significant antenatal, perinatal, or family history. Her body weight was 6 kg. On general physical examination, she had macroglossia, hypotonia, and developmental delay. Cardiorespiratory examination revealed cardiomegaly with pansystolic murmur at the apex. Abdominal palpation revealed hepatomegaly. A transthoracic echocardiography revealed left ventricular hypertrophy at the apex as well as at the apicolateral and apicoseptal walls. There was absence of obstruction or gradient across the left ventricular outflow tract. Moderate eccentric mitral regurgitation was also seen due to dilated left ventricle with left ventricular systolic dysfunction (left ventricle ejection function 40%). The thickness of left ventricular septal and free wall at the level between midventricle and apex was 1.4 cm and 1.1 cm, respectively, which was abnormal for her age, and thickness of other wall was normal for her age. Apical four-chamber view showed the presence of thickened left ventricular apex with ‘‘spade-shaped’’ small apical cavity (Figure 1A-D). Electrocardiogram demonstrated the features of sinus rhythm with short PR interval, left ventricular hypertrophy with increased QRS voltage, and giant deep ‘‘T’’ wave inversion in the chest leads and limb leads suggestive of apical cardiomyopathy (Figure 1E). Serum creatine kinase level was very high and thyroid function test was found to be within normal limit. There was mild derangement of liver function test. This case was diagnosed clinically as Pompe’s disease with apical cardiomyopathy as there was hypotonia, developmental delay, macroglossia with features of apical cardiomyopathy in electrocardiogram, and
echocardiography. She was treated with oral diuretics, b-blocker, and angiotensin-convertase enzyme (ACE) inhibitor. Pompe’s disease is an autosomal recessive, rare glycogen storage disorder (type II) due to deficiency of a-1,4 glucosidase.1 Three common organs affected in this disorder are heart, muscle, and liver. Clinically, it is divided into three types as severe infantile form, a juvenile-onset type, and an adult-onset variant. Clinical examination in infantile form reveals flaccid infant with severe hypotonicity, macroglossia, hyporeflexia, and cardiac enlargement.2 Electrocardiographic findings include short PR interval and high-voltage QRS complexes due to the left ventricular hypertrophy. Echocardiography provides useful morphological information for diagnosis of hypertrophic or dilated cardiomyopathy. Pompe’s disease has poor prognosis, particularly in the infantile form. Heart management includes b-blockers, ACE inhibitors, and diuretics in dilated cardiomyopathy. Recently, enzyme replacement therapy with recombinant human a-glucosidase (Myozyme) has been used and can provide hope for patients with this serious disease.2 Neonatal metabolic screening with early diagnosis and treatment may improve the clinical outcome of this disorder.3 Our case was
1
Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore, Karnataka, India Corresponding Author: Soumya Patra, Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore 560069, Karnataka, India. Email: [email protected]
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
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World Journal for Pediatric and Congenital Heart Surgery 5(3)
Figure 1. A-D, Transthoracic echocardiography demonstrated apical hypertrophic cardiomyopathy with ‘‘spade-shaped’’ left ventricular (LV) cavity without any LV outflow tract obstruction and moderate mitral regurgitation (MR). E, Electrocardiogram demonstrated sinus rhythm with short PR interval and LV hypertrophy with giant ‘‘T’’ wave inversion in both chest and limb lead and increased voltage of QRS complex.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
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peculiar as this patient presented with the classical features of nonobstructive apical hypertrophic cardiomyopathy.4 Acknowledgment Consent has been taken from the attendant of the patient.
Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Jegadeeswari A, Amuthan V, Janarthanan RA, Murugan S, Balasubramanian S. Two cases of Pompe’s disease: case report and review of literature. Indian Heart J. 2012;64(2): 214-216. 2. Swarr DT, Kaufman B, Fogel MA, Finkel R, Ganesh J. Unusual cardiac ‘‘masses’’ in a newborn with infantile pompe disease. JIMD Rep. 2012;5: 17-20. 3. Vhien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009;124(6): e1116-e1125. 4. Caglar I, Vural A, Ungan I, Ugurlucan M, Karakaya O. Apical hypertrophic cardiomyopathy —case report and review of the literature. Georgian Med News. 2013;(216): 19-23.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
Apical Hypertrophic Cardiomyopathy in an Infant: First Presentation of Pompe’s Disease
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(3) 491-493 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135114526421 pch.sagepub.com
Soumya Patra, MD1, Anand Subramaniun, DM1, Jayranganath Mahimaiha, DM1, Usha Mandikal Kodanda Rama Sastry, MD1, and Manjunath Cholenahally Nanjappa, DM1
Abstract Pompe’s disease is a type II glycogen storage disorder resulting from deficiency of a-1,4 glucosidase. It is usually associated with dilated or hypertrophic cardiomyopathy. Association of apical hypertrophic cardiomyopathy is rarely seen. We present a case of a ten-month-old baby with clinical features of both apical hypertrophic cardiomyopathy and Pompe’s disease. Keywords apical cardiomyopathy, infantile, Pompe’s disease Submitted November 06, 2013; Accepted February 06, 2014.
A ten-month-old female baby presented with lethargy and feeding difficulty. She was delivered as a first-born child from a normal vaginal delivery after a consanguineous marriage. There was no significant antenatal, perinatal, or family history. Her body weight was 6 kg. On general physical examination, she had macroglossia, hypotonia, and developmental delay. Cardiorespiratory examination revealed cardiomegaly with pansystolic murmur at the apex. Abdominal palpation revealed hepatomegaly. A transthoracic echocardiography revealed left ventricular hypertrophy at the apex as well as at the apicolateral and apicoseptal walls. There was absence of obstruction or gradient across the left ventricular outflow tract. Moderate eccentric mitral regurgitation was also seen due to dilated left ventricle with left ventricular systolic dysfunction (left ventricle ejection function 40%). The thickness of left ventricular septal and free wall at the level between midventricle and apex was 1.4 cm and 1.1 cm, respectively, which was abnormal for her age, and thickness of other wall was normal for her age. Apical four-chamber view showed the presence of thickened left ventricular apex with ‘‘spade-shaped’’ small apical cavity (Figure 1A-D). Electrocardiogram demonstrated the features of sinus rhythm with short PR interval, left ventricular hypertrophy with increased QRS voltage, and giant deep ‘‘T’’ wave inversion in the chest leads and limb leads suggestive of apical cardiomyopathy (Figure 1E). Serum creatine kinase level was very high and thyroid function test was found to be within normal limit. There was mild derangement of liver function test. This case was diagnosed clinically as Pompe’s disease with apical cardiomyopathy as there was hypotonia, developmental delay, macroglossia with features of apical cardiomyopathy in electrocardiogram, and
echocardiography. She was treated with oral diuretics, b-blocker, and angiotensin-convertase enzyme (ACE) inhibitor. Pompe’s disease is an autosomal recessive, rare glycogen storage disorder (type II) due to deficiency of a-1,4 glucosidase.1 Three common organs affected in this disorder are heart, muscle, and liver. Clinically, it is divided into three types as severe infantile form, a juvenile-onset type, and an adult-onset variant. Clinical examination in infantile form reveals flaccid infant with severe hypotonicity, macroglossia, hyporeflexia, and cardiac enlargement.2 Electrocardiographic findings include short PR interval and high-voltage QRS complexes due to the left ventricular hypertrophy. Echocardiography provides useful morphological information for diagnosis of hypertrophic or dilated cardiomyopathy. Pompe’s disease has poor prognosis, particularly in the infantile form. Heart management includes b-blockers, ACE inhibitors, and diuretics in dilated cardiomyopathy. Recently, enzyme replacement therapy with recombinant human a-glucosidase (Myozyme) has been used and can provide hope for patients with this serious disease.2 Neonatal metabolic screening with early diagnosis and treatment may improve the clinical outcome of this disorder.3 Our case was
1
Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore, Karnataka, India Corresponding Author: Soumya Patra, Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore 560069, Karnataka, India. Email: [email protected]
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
492
World Journal for Pediatric and Congenital Heart Surgery 5(3)
Figure 1. A-D, Transthoracic echocardiography demonstrated apical hypertrophic cardiomyopathy with ‘‘spade-shaped’’ left ventricular (LV) cavity without any LV outflow tract obstruction and moderate mitral regurgitation (MR). E, Electrocardiogram demonstrated sinus rhythm with short PR interval and LV hypertrophy with giant ‘‘T’’ wave inversion in both chest and limb lead and increased voltage of QRS complex.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
Patra et al
493
peculiar as this patient presented with the classical features of nonobstructive apical hypertrophic cardiomyopathy.4 Acknowledgment Consent has been taken from the attendant of the patient.
Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Jegadeeswari A, Amuthan V, Janarthanan RA, Murugan S, Balasubramanian S. Two cases of Pompe’s disease: case report and review of literature. Indian Heart J. 2012;64(2): 214-216. 2. Swarr DT, Kaufman B, Fogel MA, Finkel R, Ganesh J. Unusual cardiac ‘‘masses’’ in a newborn with infantile pompe disease. JIMD Rep. 2012;5: 17-20. 3. Vhien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009;124(6): e1116-e1125. 4. Caglar I, Vural A, Ungan I, Ugurlucan M, Karakaya O. Apical hypertrophic cardiomyopathy —case report and review of the literature. Georgian Med News. 2013;(216): 19-23.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on December 29, 2014
