Case Report
Openaccess
Image Evaluation of Apical Hypertrophic
Cardiomyopathy in Octagenary: An Especial
Report
Victor Rodrigues Ribeiro Ferreira, Maria Christiane Valeria Braga Braile-Sternieri, Eliana Migliorini
Mustafa, Sofia Braile Sabino, Cibele Olegario Vianna Queiroz, Bethina Canaroli Sbardellini, Giovanni
Braile Sternieri, Lucia Angelica Buffulin de Faria, Idiberto Jose Zotarelli Filho* and Domingo
Marcolino Braile
Domingo Braile Institute of Sao Jose do Rio Preto (SP), Brazil
*Corresponding author: Idiberto Jose Zotarelli Filho, Domingo Braile Institute of Sao Jose do Rio Preto (SP), Brazil, Tel: + 55 (17) 3203-4039,
+55(17) 8166-6537; E-mail:
@ or
@
Received: 17 November, 2017; Accepted: 15 December, 2017; Published: 03 January, 2018
Citation: Zotarelli Filho IJ, Ferreira VRR, Mustafa EM, et al. (2018) Image Evaluation of Apical Hypertrophic Cardiomyopathy in Octagenary: An Especial Report. Cardiovascular Thoracic Surgery 3(1):1-3. DOI: 10.15226/2573-864X/3/1/00133
Abstract
Introduction: Yamaguchi Syndrome accounts for 15.0 - 25.0 % of
all cases of hypertrophic cardiomyopathies in Japan. In addition, about
54.0 % of patients are symptomatic, including palpitations, dyspnoea,
dizziness, syncope and chest pain.
Objective: To present a special case of Apical Hypertrophic Cardiomyopathy (AHCM) in a female and Brazilian patient over eighty years old, as well as their recovery with pharmacological treatment.
Highlight of Case: The present case report has its notorious importance due to its occurrence in patient without oriental descent; Longevity of the patient demonstrating the efficacy of pharmacological treatment; exhaustion of image evaluation methodologies for diagnosis and therapeutic conduction.
Conclusion: The evolution of imaging diagnostic resources has made AHCM evaluation more elaborate, often providing information that helps therapeutical conduction, allowing an increase in survival with a significant improvement in quality of life.
Keywords: Apical Hypertrophic Cardiomyopathy; Yamaguchi Syndrome; Brazilian Octagenary; pharmacological treatment
Objective: To present a special case of Apical Hypertrophic Cardiomyopathy (AHCM) in a female and Brazilian patient over eighty years old, as well as their recovery with pharmacological treatment.
Highlight of Case: The present case report has its notorious importance due to its occurrence in patient without oriental descent; Longevity of the patient demonstrating the efficacy of pharmacological treatment; exhaustion of image evaluation methodologies for diagnosis and therapeutic conduction.
Conclusion: The evolution of imaging diagnostic resources has made AHCM evaluation more elaborate, often providing information that helps therapeutical conduction, allowing an increase in survival with a significant improvement in quality of life.
Keywords: Apical Hypertrophic Cardiomyopathy; Yamaguchi Syndrome; Brazilian Octagenary; pharmacological treatment
Introduction
Yamaguchi Syndrome represents 15.0 - 25.0 % of all cases of
hypertrophic cardiomyopathies in Japan [1]. Although it is the
most prevalent of genetic diseases, the prevalence of AHCM in
the world population is low, around 0.02 to 0.20 %. With initial
studies supporting more benign prognosis but more recent
reports suggesting cardiovascular morbidity from 25.0% to 30.0%
and mortality in 4.0 % to 29.0 % of cases [2]. In addition, about
54.0 % of the patients are symptomatic, including palpitations,
dyspnoea, dizziness, syncope and chest pain [1,2].
Thus, AHCM is diagnosed by means of complementary examinations, where some alterations are detected: Echocardiogram ECG (T-wave and > 10.0 mm); Echocardiogram (tip obstruction); Left ventriculography (aspect of swords [3]. Precordial pain is the most frequent symptom ranging from 11.1 % 1 to 73.9 %; Following palpitations from 13.33 to 44.4%; Dyspnea from 1337 to 33.3% and fatigue from 103 to 15.4 % [3, 4].
Diagnosis is performed in adulthood, however, there are some severe cases in adolescence [5-9]. Sakamoto, et al. performed 171,306 electrocardiograms (ECG) in Japanese schoolchildren under 15 years of age, and found no case with T wave alterations [3]. The study by Morimoto, et al. in Japanese adults, who detected changes in giant T in 11 of 12,898 (0,085 %) males and in 6 of 21,232 (0,028 %) females, increasing the incidence with increasing age [16].
This was confirmed by Bielli, et al. who accompanied an 86-year-old patient, who had not presented any electrocardiographic changes until the age of 70. The apical form can be transmitted genetically, as well as being associated with other types of AHCM in individuals of the same family [10].
The present study aimed to present a special case of apical hypertrophic cardiomiopathy in female and Brazilian patients over eighty years old, as well as their recovery with pharmacological treatment.
Thus, AHCM is diagnosed by means of complementary examinations, where some alterations are detected: Echocardiogram ECG (T-wave and > 10.0 mm); Echocardiogram (tip obstruction); Left ventriculography (aspect of swords [3]. Precordial pain is the most frequent symptom ranging from 11.1 % 1 to 73.9 %; Following palpitations from 13.33 to 44.4%; Dyspnea from 1337 to 33.3% and fatigue from 103 to 15.4 % [3, 4].
Diagnosis is performed in adulthood, however, there are some severe cases in adolescence [5-9]. Sakamoto, et al. performed 171,306 electrocardiograms (ECG) in Japanese schoolchildren under 15 years of age, and found no case with T wave alterations [3]. The study by Morimoto, et al. in Japanese adults, who detected changes in giant T in 11 of 12,898 (0,085 %) males and in 6 of 21,232 (0,028 %) females, increasing the incidence with increasing age [16].
This was confirmed by Bielli, et al. who accompanied an 86-year-old patient, who had not presented any electrocardiographic changes until the age of 70. The apical form can be transmitted genetically, as well as being associated with other types of AHCM in individuals of the same family [10].
The present study aimed to present a special case of apical hypertrophic cardiomiopathy in female and Brazilian patients over eighty years old, as well as their recovery with pharmacological treatment.
Highlight of Case
The present case report has its notorious importance due to
its occurrence in a patient without oriental descent; Longevity
of the patient demonstrating the efficacy of pharmacological
treatment; exhaustion of image evaluation methodologies for
diagnosis and therapeutic conduction.
Case
MHC, female, Caucasian, from Rio de Janeiro, with type 2
diabetes mellitus and hypothyroidism, began follow-up in 2012
with persistent dizziness and fatigue at medium efforts. The
electrocardiogram revealed sinus tachycardia with an inverted T
wave with a maximum amplitude of 6.00 mm and signs of Left
Ventricular (LV) hypertrophy. Echocardiography revealed grade
II diastolic dysfunction and preserved systolic function (Figures
1, 2). LV analysis indicated significant hypertrophy in all apical
segments, with normalization of mid-basal segment thickness.
The aspect of the LV was noted in “swords suit”, an image
suggestive of Apical Hypertrophic Cardiomyopathy (AHCM).
No significant gradient was identified in the left ventricle
outflow tract, and the valvular apparatus evaluation identified
mild, mild, mitral and tricuspid aortic regurgitation. Cardiac
magnetic resonance revealed an increase in the thickness of
all apical myocardial segments, being the largest apical-apical
diameter 18.00 mm thick (Figure 3). It also revealed a discrete
Figure 1: Diastole Echocardiography Image
Figure 2: Systole Echocardiography Image
Figure 3: Resonance Magnetic Image
area of late mesocardial enhancement, of non-coronary pattern
in all apical segments, estimated in 2.0 grams, corresponding to
approximately 2.0 % of the myocardial mass. After four years
of pharmacological treatment with amiodarone hydrochloride
(100.0 mg/ day), trimetazidine dihydrochloride (70.0 mg/ day),
metoprolol tartrate (50.0 mg/ day), acetylsalicylic acid (100.0
mg/ day), rosuvastatin calcium 5.0 mg/ day) and levothyroxine
sodium (100 mcg/ day). The patient continues with excellent
clinical evolution and improved quality of life.
Discussion
The descriptions of AHCM date back to the 19th century. In
1979, Yamaguchi and his colleagues published a series of 30
patients with cardiomyopathy with apical presentation, a study
that gained great repercussion and denominated Yamaguchi’s
Disease [3,12].
Apical hypertrophic cardiomyopathy (Yamaguchi syndrome) is a rare subtype of hypertrophic cardiomyopathy. The syndrome is most common in Japan, where it was first described. Outside Japan, it is a very rare cause of hypertrophic cardiomyopathy [12,13].
AHCM typically has an autosomal dominant inheritance pattern, but may also be sporadic. Recent studies suggest the association of AHCM with genetic mutations in ACTC1, TPM1, MYBPC3 and MYH7, and current studies are underway to identify other contributing genes. It is characterized by hypertrophy of the left ventricular apex, inversions of deep T waves on the electrocardiogram, and a silhouette of ace-of-spades of the left ventricular chamber [1]. The phenotypic variants of AHCM include predominant apex hypertrophy, obstruction of the ventricular medium with cavity obliteration, and left ventricular aneurysm.
In this context, the heterogeneity of its presentation and clinical variability causes AHCM to have a late or lost diagnosis [1]. In the absence of epicardial coronary artery disease, AHCM is caused by myocardial ischemia due to the narrowing of the intramural coronary arteries of small vessels of the hypertrophied myocardium, as well as increased demand for oxygen in the myocardium [3]. Ventricular arrhythmias may also occur due to asymmetry hypertrophy of the left ventricle, resulting in dizziness, syncope or sudden cardiac death. Still, there is compromised filling of the left ventricle due to the stiffness of the wall and subsequent reduction of the cardiac output. Increased atrial pressures and dilatation of diastolic dysfunction can lead to atrial fibrillation, which predisposes to stroke [11].
Complementary imaging has become indispensable for the therapeutic planning of patients with AHCM [11]. In unusual presentations such as apical morphology, the determination of aspects such as myocardial fibrosis, valvar regurgitation, systolicdiastolic dysfunction, complex arrhythmias, myocardial ischemia, among others, shows the importance of diagnostic resources in order to allow longevity with quality of life as In the case described above [11-16].
It is important to differentiate this electrocardiographic alteration from others attributed to: Morgagni-Adams-Stokes syndrome, ischemic disease, bradycardia, metabolic disorder, right ventricular hypertrophy with right bundle branch block, encephalic changes and transient changes during coronary angiography due to apical hypertrophy [12].
Thus, only after the work performed by Yamaguchi et al., Covering 30 patients, it obtained a great repercussion, spreading the concept of this type of hypertrophic cardiomyopathy.
Apical hypertrophic cardiomyopathy (Yamaguchi syndrome) is a rare subtype of hypertrophic cardiomyopathy. The syndrome is most common in Japan, where it was first described. Outside Japan, it is a very rare cause of hypertrophic cardiomyopathy [12,13].
AHCM typically has an autosomal dominant inheritance pattern, but may also be sporadic. Recent studies suggest the association of AHCM with genetic mutations in ACTC1, TPM1, MYBPC3 and MYH7, and current studies are underway to identify other contributing genes. It is characterized by hypertrophy of the left ventricular apex, inversions of deep T waves on the electrocardiogram, and a silhouette of ace-of-spades of the left ventricular chamber [1]. The phenotypic variants of AHCM include predominant apex hypertrophy, obstruction of the ventricular medium with cavity obliteration, and left ventricular aneurysm.
In this context, the heterogeneity of its presentation and clinical variability causes AHCM to have a late or lost diagnosis [1]. In the absence of epicardial coronary artery disease, AHCM is caused by myocardial ischemia due to the narrowing of the intramural coronary arteries of small vessels of the hypertrophied myocardium, as well as increased demand for oxygen in the myocardium [3]. Ventricular arrhythmias may also occur due to asymmetry hypertrophy of the left ventricle, resulting in dizziness, syncope or sudden cardiac death. Still, there is compromised filling of the left ventricle due to the stiffness of the wall and subsequent reduction of the cardiac output. Increased atrial pressures and dilatation of diastolic dysfunction can lead to atrial fibrillation, which predisposes to stroke [11].
Complementary imaging has become indispensable for the therapeutic planning of patients with AHCM [11]. In unusual presentations such as apical morphology, the determination of aspects such as myocardial fibrosis, valvar regurgitation, systolicdiastolic dysfunction, complex arrhythmias, myocardial ischemia, among others, shows the importance of diagnostic resources in order to allow longevity with quality of life as In the case described above [11-16].
It is important to differentiate this electrocardiographic alteration from others attributed to: Morgagni-Adams-Stokes syndrome, ischemic disease, bradycardia, metabolic disorder, right ventricular hypertrophy with right bundle branch block, encephalic changes and transient changes during coronary angiography due to apical hypertrophy [12].
Thus, only after the work performed by Yamaguchi et al., Covering 30 patients, it obtained a great repercussion, spreading the concept of this type of hypertrophic cardiomyopathy.
Conclusion
The evolution of imaging diagnostic resources has made
AHCM evaluation more elaborate, often providing information
that helps therapeutical conduction, allowing an increase in
survival with a significant improvement in quality of life.
Acknowledgements
The work was supported by Domingo Braile Institute - Sao
Jose do Rio Preto - SP, Brazil
ReferencesTop
- Jorge Silva, Gerardo Palacios, Hector Luciardi. Apical hypertrophic cardiomyopathy. Yamaguchi syndrome. Rev Fed Arg Cardiol. 2016;45(4):208-209.
- Jan MF, Todaro MC, Oreto L, Tajik AJ. Apical hypertrophic cardiomyopathy: Present status. Int J Cardiol. 2016 Nov 1;222:745-759. doi: 10.1016/j.ijcard.2016.07.154
- 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 ultrasono-cardiotomographic study. Jpn Heart J. 1976;17(5):611-629.
- Keren G, Belhassen B, Sherez J, Miller HI, Megidish R, Berenfeld D, et al. Apical hypertrophic cardiomyopathy: evaluation by non invasive and invasive techniques in 23 patients. Circulation.1985;71:45-56.
- Steingo L, Dansky R, Pocock WA, Barlow JB. Apical hypertrophic non obstructive Cardiomyopathy. Am Heart J. 1982;104(3):635-637.
- Kereiakes DJ, Anderson DJ, Crouse L, Chatterjee K. Apical hypertrophic Cardimiopathy. Am Heart J. 1983;105:855-856.
- McDonnell MA, Tsagaris TJ. Recognition and diagnosis of apical hypertrophic cardiomyopathy. Chest. 1983; 84(5):644-647.
- Vacek JL, Davis WR, Bellinger RL, Mckiernan TL. Apical hypertrophic cardiomyopathy in American patients. Am Heart J. 1984;108(6):1501-1506.
- Sakamoto T, Hada Y, Amano K, Yamaguchi T, Takenaka K. Population study of mitral valve prolapse in the young: eight years experience. Circulation. 1984; 70(suppl 11):162-166.
- Bielli M, Parravicini V, ZanettaM, Zenone F. Apical hypertróoica cardiomyopathy: description of an advanced age case with documentation of electrocardiographic evolution. G Ital Cardiol. 1991;21:1325-1329.
- Pelliccia F, Pasceri V, Limongelli G, Autore C, Basso C, Corrado D, et al. Long-term outcome of nonobstructive versus obstructive hypertrophic cardiomyopathy: A systematic review and meta-analysis. Int J Cardiol. 2017;243:379-384. doi: 10.1016/j.ijcard.2017.06.071
- Doctorian T, Mosley WJ, Do B. Apical Hypertrophic Cardiomyopathy: Case Report and Literature Review. Am J Case Rep. 2017;18:525-528.
- Candelario N, Penalver J, Sen M. Yamaguchi syndrome presenting as atrioventricular nodal re-entrant tachycardia in an African-American patient. BMJ Case Rep. 2017;2017. pii: bcr2016218051. doi: 10.1136/bcr-2016-218051
- Diaconu CC, Dumitru N, Fruntelata AG, Lacau S, Bartos D. Apical Hypertrophic Cardiomyopathy: The Ace-of-Spades as the Disease Card. Acta Cardiol Sin. 2015;31:83-86.
- Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, et al. Risk of death in long-term follow-up of patients with apical hypertrophic cardiomyopathy. Am J Cardiol. 2013;111(12):1784-1791. doi: 10.1016/j.amjcard.2013.02.040
- Morimoto S, Osamura Y, Matsumura K, Harada M, Komatsu Y. On the incidence of giant negative T waves of the electrocardiograms among 34000 population and a cardiac study including ventriculography and endomyocardial biopsy. Resp Circul. 1981;29:1337-1340.