Copyright © 2006, The European Society of Cardiology
Apical hypertrophic cardiomyopathy and atrial septal defect: Part of a multi-organ syndrome?
aDepartment of Internal Medicine, Nephrology and Health Sciences, University of Parma, Via Gramsci 14, 43100, Parma, Italy
bDepartment of Clinical Sciences, Chair of Cardiology, University of Parma, Italy
Received 27 October 2005; received in revised form 12 January 2006; accepted after revision 29 January 2006.
* Corresponding author. Tel.: +39 0521 033192; fax: +39 0521 033185. pattopaolo{at}libero.it
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Aim We describe a case of non-obstructive apical hypertrophic cardiomyopathy with atrial septal defect, in a 48-year-old caucasian female patient with chronic renal failure, hypothyroidism and primary amenorrhea, referred to our hospital for syncope, palpitation and shortness of breath.
Methods and results Electrocardiogram, transthoracic echocardiogram and cardiac magnetic resonance showed classical features of apical hypertrophic cardiomyopathy. Apical hypertrophic cardiomyopathy is morphologically characterized by apical ventricular hypertrophy, and is reported to be a relatively benign prognosis compared with the other type of hypertrophic cardiomyopathy.
Conclusion Apical hypertrophic cardiomyopathy is very rare in the West, is occasionally encountered in Japanese persons, but there have been only a few reports of its coexistence with atrial septal defect. Our present report is the first case of apical hypertrophic cardiomyopathy with atrial septal defect associated with renal failure, hypothyroidism and primary amenorrhea that could represent a multi-organ syndrome. This hypothesis was supported by the finding of the same characteristics in a sister of the patient.
Keywords: Apical hypertrophic cardiomyopathy; Atrial septal defect; Renal failure; Hypothyroidism; Primary amenorrhea
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We describe a case of a 48-year-old caucasian woman, who was referred to our hospital for the evaluation of syncope, palpitations and exertional dyspnea. The patient was affected by chronic renal failure in therapy with ramipril 2.5mg/day from around 10 years, primary amenorrhea and hypothyroidism in treatment with hormonal therapy. The family history reported arterial hypertension, coronary artery disease and sudden death. The clinical examination showed rhythmic heart sound with mild systolic murmur. Vesicular murmur was preserved and blood pressure was 120/70mmHg. Electrocardiogram showed sinus rhythm, left ventricular hypertrophy with negative T-wave in leads I, aVL and V2 to V6 (Fig. 1). The transthoracic echocardiography provided the following important informations: dilated left atrial dimension (62mm) with atrial septal aneurysm and atrial septal defect (ASD), a marked hypertrophy of distal segment of septum and apex (25mm), normal left ventricular ejection fraction (65%), moderate mitral regurgitation (Fig. 2). By transesophageal echocardiography, a secundum-type ASD was clearly observed and Doppler color image showed abnormal flow from the left to right atrium through the intra-atrial septum. Holter 24-h electrocardiographic monitoring revealed ventricular extrasystolie (876/day) with multiple non-sustained ventricular tachycardia. The patient underwent a cardiac magnetic resonance imaging which confirm the diagnosis of apical hypertrophic cardiomyopathy (HCM); gadolinium delayed imaging revealed contrast hyperenhancement corresponding to apical left ventricle on both long- and short-axis images. The patient was treated with acetylsalicylic acid 100mg/day, metoprolol 50mg twice a day, ramipril 2.5mg/day. An electrophysiological study reproducibly induced polymorphic ventricular tachycardia, so a cardioverter defibrillator was implanted. Afterwards, her symptoms were alleviated.
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Apical HCM is a hereditary myocardial disorder, caused by mutations of sarcomeric proteins.1 The hypertrophy of myocardium predominantly involves the apex of the left ventricle.2 Apical HCM has favorable clinical outcome.3,4 The frequency of asymptomatic patients with apical HCM is 46%.5 However, severe clinical manifestations, including sudden cardiac death, severe arrhythmias and apical infarction can be seen. Diagnosis of apical HCM is based on electrocardiographic (giant negative T-waves in the precordial leads), echocardiographic (hypertrophy and no intraventricular pressure gradient) and angiographic6 (spade-like configuration of the left ventricle on contrast angiography) findings. As many as 25% of Japanese patients with HCM have predominantly apical involvement. Apical HCM occurs in only 1–2% of the non-Japanese population.7 Apical HCM is now a well-known myocardial disease, but the additional coexistence of an ASD,8 renal failure, primary amenorrhea and hypothyroidism is quite rare; we supposed that this combination could represent a multi-organ syndrome. This hypothesis was supported by the finding of the same characteristics in a sister of the patient who had remarkably similar physical examination, renal failure in therapy with ramipril, primary amenorrhea and hypothyroidism in treatment with hormonal therapy, electrocardiographic findings and ASD but not yet apical left ventricular hypertrophy. Besides, we supposed that in our patient, the prolonged therapy with ACE-inhibitor could have delayed the symptoms and cardiac concentric remodelling.
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[Free Full Text] - Morito N., Ogawa M., Matsuo S., Mihara H., Miyoshi K., Yahiro E., et al. Atrial septal defect in apical hypertrophic cardiomyopathy associated with coronary spasm. Int J Cardiol (2004 Feb) 93(2–3):339–342.[CrossRef][Web of Science][Medline]
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