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King of Hearts for Ace of Spades: Apical Hypertrophic Cardiomyopathy

2013; Elsevier BV; Volume: 127; Issue: 1 Linguagem: Inglês

10.1016/j.amjmed.2013.10.001

1555-7162

Daku Siewe, Kyle B. Nichols, Scott L. Furney, László Littmann,

Cardiovascular Effects of Exercise

Despite recurring hospitalizations and evaluations, the correct diagnosis can remain elusive. This point was highlighted when a 56-year-old man presented with chest pain, headache, and syncope. He had a long history of atypical chest pain, recurrent syncope, paroxysmal atrial fibrillation, and nonsustained ventricular tachycardia. His chest pain was nonexertional, sharp, and localized to the substernum; it was not associated with dyspnea. He described the headache as frontal and sharp in nature without focal neurological symptoms, nausea, or vomiting. Syncope, which occurred upon standing, was preceded by a brief period of lightheadedness. The patient had no history of hypertension or cocaine abuse, and he had no heart murmur. All of his documented blood pressures were normal, and urine drug screening was repeatedly negative for cocaine metabolites. His father, who had a history of hypertension, diabetes, and coronary artery disease, passed away from a massive heart attack in his fifties. There was no family history of arrhythmias or unexplained sudden death. A 12-lead electrocardiogram (ECG) demonstrated sinus rhythm, possible left ventricular hypertrophy, and deep, symmetric, peaked, negative T-waves in the anterolateral leads (Figure 1). These tracings were unchanged from prior ECGs. The patient's physical examination findings were normal, and routine laboratory testing, including cardiac serum markers, did not show any significant abnormality. Further review of the patient's medical records revealed a puzzling picture of multiple hospital admissions over several years with similar clinical presentations. Repeat workups were unable to establish a firm diagnosis. Three echocardiograms showed left ventricular hypertrophy with normal left ventricular systolic function and impaired relaxation. In the most recent echocardiogram, both the septal thickness and posterior wall thickness measured at the base of the heart was 1.5 cm. No septal predominance was noted, and Doppler interrogation did not detect an intracavitary pressure gradient. Two stress echocardiograms had been negative for ischemia. In 2008, the patient was diagnosed with paroxysmal atrial fibrillation, but he had not had a documented recurrence since then. On 2 recent hospitalizations, telemetry monitoring displayed episodes of both ectopic atrial tachycardia and nonsustained ventricular tachycardia. The ECG showed sinus rhythm, possible left atrial enlargement, a normal QRS axis, and generous QRS voltages in the mid-precordial leads (Figure 1). Deep, narrow-based, fairly peaked negative T waves with a maximum depth of 13 mm were evident in the anterolateral leads and deepest in lead V4. Two significant findings in this case point to the correct but previously missed diagnosis. First, several ECGs and echocardiograms consistently showed left ventricular hypertrophy. In a patient with no history of hypertension or aortic stenosis, the finding of left ventricular hypertrophy should always raise clinical suspicion for hypertrophic cardiomyopathy. Additionally, the large, deep, symmetrical, negative T waves seen in this patient's ECG are very typical for the apical form of hypertrophic cardiomyopathy.1Yamaguchi H. Ishimura T. Nishiyama S. et al.Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.Am J Cardiol. 1979; 44: 401-412Abstract Full Text PDF PubMed Scopus (402) Google Scholar, 2Louie E.K. Maron B.J. Apical hypertrophic cardiomyopathy: clinical and two-dimensional echocardiographic assessment.Ann Intern Med. 1987; 106: 663-670Crossref PubMed Scopus (102) Google Scholar Large negative T-waves have a broad differential diagnosis, including acute coronary syndrome, cocaine toxicity, neurological disorders, such as subarachnoid hemorrhage, and electrolyte abnormalities.3Pillarisetti J. Gupta K. Giant inverted T waves in the emergency department: case report and review of differential diagnoses.J Electrocardiol. 2010; 43: 40-42Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar In our patient, all of these were repeatedly ruled out. Instead, the clinical and ECG findings strongly suggested a diagnosis of apical hypertrophic cardiomyopathy. Also known as Yamaguchi syndrome, this variant of hypertrophic cardiomyopathy is relatively common in Japan.1Yamaguchi H. Ishimura T. Nishiyama S. et al.Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.Am J Cardiol. 1979; 44: 401-412Abstract Full Text PDF PubMed Scopus (402) Google Scholar, 2Louie E.K. Maron B.J. Apical hypertrophic cardiomyopathy: clinical and two-dimensional echocardiographic assessment.Ann Intern Med. 1987; 106: 663-670Crossref PubMed Scopus (102) Google Scholar In non-Japanese populations, it is quite rare, with a prevalence as low as 3% of all hypertrophic cardiomyopathy cases in the United States.4Kitaoka H. Doi Y. Casey S.A. Hitomi N. Furuno T. Maron B.J. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States.Am J Cardiol. 2003; 92: 1183-1186Abstract Full Text Full Text PDF PubMed Scopus (142) Google Scholar Hypertrophy of the myocardium predominantly involves the apex of the left ventricle without the typical septal predominance seen in hypertrophic obstructive cardiomyopathy.1Yamaguchi H. Ishimura T. Nishiyama S. et al.Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.Am J Cardiol. 1979; 44: 401-412Abstract Full Text PDF PubMed Scopus (402) Google Scholar, 2Louie E.K. Maron B.J. Apical hypertrophic cardiomyopathy: clinical and two-dimensional echocardiographic assessment.Ann Intern Med. 1987; 106: 663-670Crossref PubMed Scopus (102) Google Scholar, 4Kitaoka H. Doi Y. Casey S.A. Hitomi N. Furuno T. Maron B.J. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States.Am J Cardiol. 2003; 92: 1183-1186Abstract Full Text Full Text PDF PubMed Scopus (142) Google Scholar In the absence of left ventricular outflow tract obstruction, most patients do not have a heart murmur. One study of 105 patients with the apical form of hypertrophic cardiomyopathy found that 68% had evidence of left ventricular hypertrophy on ECG, and 93% had large T-wave inversions with close to half of inversions measuring greater than 10 mm in depth.5Eriksson M.J. Sonnenberg B. Woo A. et al.Long-term outcome in patients with apical hypertrophic cardiomyopathy.J Am Coll Cardiol. 2002; 39: 638-645Abstract Full Text Full Text PDF PubMed Scopus (307) Google Scholar At presentation, 54% of patients were symptomatic with angina, atypical chest pain, palpitations, dyspnea, or presyncope/syncope.5Eriksson M.J. Sonnenberg B. Woo A. et al.Long-term outcome in patients with apical hypertrophic cardiomyopathy.J Am Coll Cardiol. 2002; 39: 638-645Abstract Full Text Full Text PDF PubMed Scopus (307) Google Scholar As with our patient, a history of abnormal rhythms, such as atrial fibrillation, supraventricular tachycardia, nonsustained ventricular tachycardia, and even ventricular fibrillation is not unusual in this population. Although clinical and ECG findings can be highly suggestive of apical hypertrophic cardiomyopathy, imaging studies are essential for establishing the diagnosis. The echocardiogram has been reported to provide a correct diagnosis in 91% of patients, while cardiac magnetic resonance imaging is considered to be the diagnostic tool of choice if initial imaging is inconclusive.5Eriksson M.J. Sonnenberg B. Woo A. et al.Long-term outcome in patients with apical hypertrophic cardiomyopathy.J Am Coll Cardiol. 2002; 39: 638-645Abstract Full Text Full Text PDF PubMed Scopus (307) Google Scholar, 6Moon J.C. Fisher N.G. McKenna W.J. Pennell D.J. Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography.Heart. 2004; 90: 645-649Crossref PubMed Scopus (305) Google Scholar A coronary angiogram can depict or rule out associated coronary artery disease. The left ventricular angiogram, like the echocardiogram, typically demonstrates an “ace of spades” morphology characterized by a relatively normal left ventricular cavity size at the base but marked narrowing of the cavity at the apex.7Olearczyk B. Gollol-Raju N. Menzies D.J. Apical hypertrophic cardiomyopathy mimicking acute coronary syndrome: a case report and review of the literature.Angiology. 2008; 59: 629-631Crossref PubMed Scopus (14) Google Scholar Our patient's clinical presentation, his long history of atypical chest pain, syncopal episodes, atrial and ventricular tachyarrhythmias, and classic ECG findings were strongly suspicious for apical hypertrophic cardiomyopathy. A review of his prior echocardiograms, as well as a subsequent contrast echocardiogram and left ventricular angiogram, confirmed apical hypertrophy and demonstrated the characteristic “ace of spades” left ventricular morphology typical of this disease (Figure 2). The coronary angiogram was negative. The prognosis for patients with apical hypertrophic cardiomyopathy is believed to be relatively benign. Over a follow-up of 13.6 ± 8.3 years, all-cause mortality was found to be 10.5%, and cardiovascular mortality was 1.9%.5Eriksson M.J. Sonnenberg B. Woo A. et al.Long-term outcome in patients with apical hypertrophic cardiomyopathy.J Am Coll Cardiol. 2002; 39: 638-645Abstract Full Text Full Text PDF PubMed Scopus (307) Google Scholar However, approximately one-third of patients with apical hypertrophic cardiomyopathy developed life-threatening complications.5Eriksson M.J. Sonnenberg B. Woo A. et al.Long-term outcome in patients with apical hypertrophic cardiomyopathy.J Am Coll Cardiol. 2002; 39: 638-645Abstract Full Text Full Text PDF PubMed Scopus (307) Google Scholar Thus, close follow-up is warranted, and use of an implantable cardiac defibrillator must be considered in high-risk patients. Symptomatic management includes use of calcium channel blockers and beta blockers, and when appropriate, antiarrhythmic drugs. Because of our patient's history of recurrent syncope, paroxysmal atrial fibrillation, and nonsustained ventricular tachycardia, we recommended monitoring with a King of Hearts cardiac event recorder (Instromedix, San Diego, Calif). In addition, metoprolol, nitroglycerin, and aspirin were prescribed. Although there is no definitive treatment for this condition, early identification of apical hypertrophic cardiomyopathy can provide the patient and clinician with a firm diagnosis, and treatment plans can be developed accordingly. Our patient had frequent hospital admissions over several years with complaints of chest pain, but unfortunately, a correct diagnosis was not reached previously. With the high prevalence of hypertension in the population, the true origin of left ventricular hypertrophy in patients with chronic chest pain can easily be overlooked. In addition, routine interpretations of echocardiograms, without knowledge of the clinical history (absence of hypertension) and the findings in the ECG (giant negative T waves), also can fail to uncover this diagnosis. The typical ECG finding of deep, symmetrical, negative T waves in the chest leads in a patient with no history of hypertension or aortic stenosis should prompt an active search for apical hypertrophic cardiomyopathy.