Which is your diagnosis?

EDITORIAL

Which is your diagnosis?

Marcelo Souto Nacif^I; Amarino Carvalho de Oliveira Júnior^II; Denise Madeira Moreira^III; Mônica Nagano^IV; José Hugo Mendes Luz^IV; Paulo Roberto Dutra da Silva^V; Antônio Sergio Rocha^V; Carlos Eduardo Rochitte^VI

^IProfessor at Faculdade de Medicina de Teresópolis (FESO) and for Post-Graduation in Radiology at IPGMCC-VOT Imagem, Master of Radiology by Universidade Federal do Rio de Janeiro, MD Radiologist at Hospital Pró-Cardíaco, Hospital de Clínicas de Niterói and Hospital Universitário Antônio Pedro (UFF)

^IICoordinator for the Service of Radiology and Diagnostic Imaging at Hospital Pró-Cardíaco

^IIIDoctor Professor for Department of Radiology at UFRJ, Sub-Coordinator for Service of Radiology and Diagnostic Imaging at Hospital Pró-Cardíaco

^IVMD, Radiologists at Hospital Pró-Cardíaco

^VMD, Cardiologists at Hospital Pró-Cardíaco

^VIMD, Consultant for Hospital Pró-Cardíaco, Professor, Private Docent by Universidade de São Paulo (USP)

^{Mailing address}

A 42-year-old female patient, weighting 58 kg, 1.60 m in height, 74 bpm, blood pressure 140/80 mmHg, presenting a long history of abnormal findings on electrocardiograms and a familial history of heart disease has been referred to the Service of Radiology and Diagnostic Imaging at Hospital Pró-Cardíaco for undergoing a heart magnetic resonance imaging (MRI).

At physical examination, extrasystoles or arrhythmias have not been detected. An electrocardiogram (ECG) has demonstrated sinusal bradycardia, left ventricular hypertrophy and negative T wave. Echocardiogram (ECHO) has showed that the left ventricular (LV) global systolic function was normal (Simpson ejection fraction = 78%).

Images description

Figure 1 – Acquisition with ECG-gating, in cine Fiesta sequence (SSFP), T1FGRET and T1FGRIR, outflow tract plane diastole (A) and systole (B); short-axis (C); delayed enhancement – outflow tract (D) and two LV chambers (E). Observe a mild concentric hypertrophy, with an increase of the myocardial thickness predominating in the apical and anteroseptal segments, associated with a moderate decrease the LV end relaxation and accentuated endomyocardial trabeculation.

Diagnosis: Apical hypertrophic cardiomyopathy (AHCM).

COMMENTS

The AHCM is characterized by myocardial hypertrophy, predominantly from the apex to the left ventricle, and was first described in Japan, by Sakamoto et al.⁽¹⁾, in 1976, and universally disseminated by Yamaguchi et al.⁽²⁾, in 1979.

The AHCM is a rare form of hypertrophic cardiomyopathy (HCM), with higher predominance amongst male Asians (5:1), with a lower ratio amongst Caucasians (2.5:1)⁽³⁾. The incidence ranges between 2% and 10% of patients in the general population, achieving 25% in the Japanese population. In Rio de Janeiro, a study performed by Albanesi Fº et al.⁽⁴⁾ has found an incidence of 8.34%^(3,4).

Despite the good prognosis, it is known that, in some cases, after long term follow-up periods, there is a possibility of evolution with severe arrhythmias, such as fibrilation or atrial flutter and ventricular tachycardia, myocardial infarction (with or without atherosclerosis), with formation of apical aneurysms or associated with severe mitral and/or tricuspid regurgitation and sudden death^(4–6).

Typical findings of this disease are: a) large inverted T waves (> 10 mm) at ECG; b) the finding of "suit of spades" at left ventriculography (Figure 2).

From the histological point of view, an extensive disarrangement of myocardial fibers and myofribrillar and myocyte alterations are observed, more restricted to the ventricular end, indistinguishable from other forms of HCM, reinforcing the concept that the apical type is a HCM variant ^(7,8).

The echocardiogram has been the first-line method for evaluating patients with HCM, but its limitation in the study of the apex, mainly in the hands of inexperienced professionals, complicates the diagnosis of AHCM. The MRI of the heart should be performed in the suspect of AHCM, since this study minimizes these problems because it is not operator-dependent as much as ECHO, does not present any limitation to the window size, has multiplanar capacity and presents an excellent contrast between soft parts^(4,7–9).

In athletes, it seems that exercises would increase the left ventricular (LV) wall stress and work, factors which could affect the development of the localized LV hypertrophy. Little reference is made to this hypothesis in the study of the AHCM, and up to this moment, no relation has been established between the sports practice and the onset of the disease^(3,5,8).

The MRI of the heart has been performed for better studying the myocardium thickness, LV function and perfusion and, mainly, the myocardial enhancement, ruling out the likelihood of an associated myocardial fibrosis and, through a non-invasive method, excluding the possibility of endomyocardiofibrosis or amyloidosis.

With the huge development of the non-invasive cardiac study, mainly by means of new methods like MRI and, most recently, CT, we must be careful with these diagnoses, particularly in cases of asymptomatic patients presenting a familial history of heart disease.

REFERENCES

1. Sakamoto T, Tei C, Murayama M, Ichiyasu H, Hada Y. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasonocardiotomographic study. Jpn Heart J 1976; 17:611–629.

2. Yamaguchi 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;44:401–412.

3. Codd MB, Sugrue DD, Gersh BJ, Melton LJ 3rd. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989;80:564–572.

4. Albanesi Fº FM, Castier MB, Lopes AS, Ginefra P. Is the apical hypertrophic cardiomyopathy seen in one population in Rio de Janeiro city similar to the found in the East? Arq Bras Cardiol 1997;69: 117–123.

5. Webb JG, Sasson Z, Rakowski H, Liu P, Wigle ED. Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates. J Am Coll Cardiol 1990;15:83–90.

6. Suzuki J, Shimamoto R, Nishikawa J, et al. Morphological onset and early diagnosis in apical hypertrophic cardiomyopathy: a long term analysis with nuclear magnetic resonance imaging. J Am Coll Cardiol 1999;33:146–151. Erratum in: J Am Coll Cardiol 1999;33:1750.

7. Gavaliatsis IP, Kouvousis NM, Rallidis LS, et al. Recurrent atrial flutter in apical hypertrophic cardiomyopathy. Jpn Heart J 1992;33:499–504.

8. Eriksson MJ, Sonnenberg B, Woo A, et al. Long-term outcome in patients with apical hypertrophic cardiomyopathy. J Am Coll Cardiol 2002;39:638–645.

9. Çubukçu AA, Scott PJ, Williams GJ. Apical hypertrophic cardiomyopathy presenting as acute subendocardial myocardial infarction. Int J Cardiol 1993;38:329–332.

Study developed at Hospital Pró-Cardíaco, Rio de Janeiro, RJ.

Publication Dates

• Publication in this collection
  21 Nov 2006
• Date of issue
  Oct 2006