DergiPark: 1020973tmsjAims: This study aims to evaluate the genetics, clinical characteristics, and functional abnormalities of patients diagnosed with hypertrophic cardiomyopathy in Trakya University Hospital. Methods: This retrospective study was conducted with patients who were diagnosed with hypertrophic cardiomyopathy between November 2009 - November 2019 in Trakya University Hospital. The data were obtained from the hospital’s database. Patients’ data (regarding age, gender, ge- netics, transthoracic echocardiogram findings, medications, types of hypertrophic cardiomyopathy, and first diagnoses) were examined. Numbers, percentages, means, and standard deviations were used as descriptive statistics. Results: Eleven patients with hypertrophic cardiomyopathy were evaluated. Five (45.45%) were female and 6 (54.54%) were male. The mean age of the female patients was 58.20 ± 8.57 years. The most common type of hypertrophic cardiomyopathy was found to be asymmetrical septal cardiomyopathy [7 (63.63%)]. Three (27.27%) patients presented with hypertension. There were gene mutations in three patients. Among these three patients, two (18.18%) patients have MYBPC3, and one (9.09%) patient has TTN gene mutations. Conclusion: Hypertrophic car- diomyopathy is usually accompanied by comorbidities such as arrhythmias, myocardial infarction, coronary artery disease. Therefore, these patients must be paid attention to in these matters

Altay, Servet

Bardakçı, Burak

Kızılkaya, Sarper

Tan, Berfin

Yüksel, Ceren

TURKISH MEDICAL STUDENT JOURNAL

English

Trakya University Academic Open Access System

Original Article | 119EVALUATION OF DEMOGRAPHIC, CLINIC AND GENETIC CHARACTERISTICS OF PATIENTS ADMITTED TO TRAKYA UNIVERSITY HOSPITAL WITH HYPERTROPHIC CARDIOMYOPATHYBurak Bardakçı1 , Berfin Tan1 , Sarper Kızılkaya1 , Ceren Yüksel1 , Servet Altay2 ABSTRACTAims: This study aims to evaluate the genetics, clinical characteristics, and functional abnormalities of patients diagnosed with hypertrophic cardiomyopathy in Trakya University Hospital. Methods: This retrospective study was conducted with patients who were diagnosed with hypertrophic cardiomyopathy between November 2009 - November 2019 in Trakya University Hospital. The data were obtained from the hospital’s database. Patients’ data (regarding age, gender, ge-netics, transthoracic echocardiogram findings, medications, types of hypertrophic cardiomyopathy, and first diagnoses) were examined. Numbers, percentages, means, and standard deviations were used as descriptive statistics. Results: Eleven patients with hypertrophic cardiomyopathy were evaluated. Five (45.45%) were female and 6 (54.54%) were male. The mean age of the female patients was 58.20 ± 8.57 years. The most common type of hypertrophic cardiomyopathy was found to be asymmetrical septal cardiomyopathy [7 (63.63%)]. Three (27.27%) patients presented with hypertension. There were gene mutations in three patients. Among these three patients, two (18.18%) patients have MYBPC3, and one (9.09%) patient has TTN gene mutations. Conclusion: Hypertrophic car-diomyopathy is usually accompanied by comorbidities such as arrhythmias, myocardial infarction, coronary artery disease. Therefore, these patients must be paid attention to in these matters. Keywords: Hypertrophic cardiomyopathy, hypertension, sudden cardiac death1Trakya University School of Medicine, Edirne, TURKEY2Department of Cardiology, Trakya University School of Medicine, Edirne, TURKEYINTRODUCTION Defined as the most inheritable group of cardiovascular dis-eases, cardiomyopathies differ in three major types based on the world’s overall population prevalence: hypertrophic (1:500), dilated (1:2500), arrhythmogenic (1:5000) (1). With cases reported from more than 50 countries and having a ratio of 1:500 in the popula-tion, hypertrophic cardiomyopathy (HCM) is the most frequent of these three major types (2). Although many patients show either no or minor symptoms and are diagnosed incidentally, they may also display diverse symptoms such as exertional dyspnea, fatigue, unexplained syncope, atypical chest pain, arrhythmia, and sudden cardiac death (SCD) (1, 3, 4). The diagnosis is primarily based on echocardiographic imaging of asymmetrical left ventricular hypertrophy without any symp-toms of other cardiac or systemic diseases, but the assessments of left ventricular outflow tract gradients, systolic and diastolic func-tion, and myocardial anatomy and function are also used for the diagnosis of HCM (5). Even though any segment of the myocardi-um can be affected due to HCM, almost 90% of the cases manifest that the septum is involved (6). According to the European Society of Cardiology guidelines, the diagnostic criteria for HCM is a left ventricular wall thickness of ≥15 mm measured with an echocar-diogram or other imaging techniques (7). Pivoting on different variables such as the reporting era or the source, the annual mortality risk of HCM spans from <1% in the general population to 3-6% in tertiary referral centers (8, 9). The reasons for HCM related deaths are varying, but according to the reports, heart failure, stroke, and SCD are the most occurring modes of death (8). This study aims to examine clinical and genetic characteristics, cardiac structure and functional abnormalities of patients diag-nosed with HCM in Trakya University School of Medicine, to assess HCM Risk-SCD score, and to establish if these factors affect the prognosis in the light of literature.MATERIAL AND METHODS This study was approved by the Scientific Research Ethics Com-mittee of Trakya University School of Medicine (Protocol Code: TÜTF-BAEK 2020/440). In this retrospective study, patients who applied to Trakya University School of Medicine, Department of Cardiology and were diagnosed with HCM between November 2009 - November 2019 in Trakya University Hospital were evaluat-ed respectively by their data. The data were obtained from the hos-pital database. Patients’ data were examined regarding age, gender, family history, syncope history, arrhythmia history, septum thick-ness, apical thickness, ejection fraction, presence of pulmonary hy-pertension, presence of systolic anterior motion, history of mitral valve disease, presence of left atrial enlargement, genetic results, presence of a pacemaker, and 10-year mortality. Patients older than 18 years were included in the study.Address for Correspondence: Burak Bardakçı, Trakya University School of Medicine, Edirne, TURKEYe-mail: burakbardakci99@gmail.comReceived: 08.09.2021 Accepted: 22.09.2021 • DOI: 10.4274/tmsj.galenos.2021.08.03.08Available at https://tmsj.trakya.edu.trORCID iDs of the authors: BB: 0000-0002-0541-6991; BT: 0000-0002-9256-7631; SK: 0000-0002-7868-1585; CY: 0000-0003-2456-7282; SA: 0000-0001-7112-3970.Cite this article as: Bardakçı B, Tan B, Kızılkaya S et al. Evaluation of demographic, clinic and genetic characteristics of patients admitted to Trakya University Hospital with hypertrophic cardiomyopathy.Turkish Med Stud J 2021;8(3):119-22.Copyright@Author(s) - Available online at https://tmsj.trakya.edu.trOPEN ACCESS120 The data were analyzed using IBM SPSS version 22 (IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 22.0. Ar-monk, NY: IBM Corp.). Numbers, percentages, mean, and standard deviation (SD) were used as descriptive statistics.RESULTS A total of 11 patients with various types of HCM were analyzed. Five (45.45%) of them were female and 6 (54.54%) of them were male. The mean age of the female patients was 58.20 ± 8.57 years and the mean age of the male patients was 46.67 ± 6.54 years. Four (36.36%) patients presented with chest pain, 3 (27.27%) patients presented with dyspnea, 3 (27.27%) patients presented with palpi-tation, and 1 (9.09%) patient was asymptomatic. Five of the patients were diagnosed with positive troponin and false axis at first. All the first diagnoses are shown in Table 1. In our study group, the most common type of HCM was found to be asymmetrical septal cardiomyopathy [7 (63.63%)], followed by apical and midventricular types, respectively [3 (27.27%), 1 (9.09%)]. HCM types of patients and the distribution regarding gender are shown in Table 2. Beta-blockers were the most frequently used medications, used by all patients in our study group [11 (100%)], followed by angio-tensin-converting enzyme inhibitor/angiotensin receptor blockers (ACEI/ARBs) [7 (63.63%)]. The distribution of the medications used by patients is shown in Table 3. In our study group, arrhythmias [5 (45.45%)] were found to be the most common comorbidities, followed by coronary artery dis-eases [4 (36.36%)]. Atrial fibrillation (AF) and ventricular extrasys-tole were the most frequent types of arrhythmias with 3 (27.27%) patients affected. All fifteen comorbidities seen in our patient group are shown in Table 4. Three (60%) female and 6 (100%) male patients presented with ischemic findings in the electrocardiogram. Five (45.45%) of the patients had left ventricle out track obstruction (LVOTO). Trans-thoracic echocardiogram (TTE) showed systolic anterior move-ment in three (27.27%) patients. TTE findings are shown in Table 5. Data regarding genetic mutations were available only for 5 pa-tients. Among these five patients, two (18.18%) patients have MYB-PC3 and one (9.09%) patient has TTN gene mutations.First Diagnosis Number (%)Screening due to family history 1 (9.09)Elevated troponin level and false axis 5 (45.45)Clinical consult due to symptoms 3 (27.27)ECG/TTE findings and hypertension 2 (18.18)Table 1: First diagnoses of the patients.ECG/TTE: Electrocardiogram/transthoracic echocardiogramHCM Type Total [n (%)]Asymmetrical septal 7 (63.64)Apical 3 (27.27)Midventricular 1 (9.09)Table 2: Hypertrophic cardiomyopathy types of the patients.HCM: Hypertrophic cardiomyopathyMedication Number (%)ACEI/ARBs 7 (63.63)Calcium channel blockers 2 (18.18)Beta blockers 11 (100)Oral anticoagulants 2 (18.18)Diuretics 5 (45.45)Acetylsalicylic acid 6 (54.54)Amiodarone 2 (18.18)Statins 4 (36.36)Antidiabetics 1 (9.09)Table 3: Medications used by the patients.ACEI/ARBs: Angiotensin converting enzyme inhibitor/angiotensin receptor blockersComorbidity Number (%)Hypertension 3 (27.27)Diabetes mellitus 2 (18.18)Coronary artery disease 4 (36.36)Chronic kidney disease 3 (27.27)Myocardial infarction 2 (18.18)Cerebrovascular accident 1 (9.09)Cardiac abnormality 1 (9.09)Atrial fibrillation 3 (27.27)Ventricular tachycardia 1 (9.09)Any type of arrhythmia 5 (45.45)Chronic liver disease 1 (9.09)VEA in Holter 3 (27.27)Cardiac arrest 1 (9.09)Death 1 (9.09)Complications of HCM 3 (27.27)Table 4: Comorbidities of the patients.VEA: Ventricular extrasystole, HCM: Hypertrophic cardiomyopathy121DISCUSSION The mean age of our study was 58.20 ± 8.57 years for female and 46.67 ± 6.54 years for male patients, which was in line with literature (10, 11).  While the studies conducted by van Velzen et al. (10) and Ol-ivotto et al. (11) showed comparable results on the frequencies of symptoms between these studies, [these results being 18% of pa-tients presenting with chest pain, 14% presenting with dyspnea, and 8% presenting with palpitations on the study of van Velzen et al. (10) and 12%, 14%, and 8%, respectively in the study of Olivotto et al. (11)], our study showed patients more frequently presenting with symptoms, 36.36% with chest pain, 27.27% with dyspnea, and 27.27% with palpation. It should be noted that both studies includ-ed a higher number of patients than our study. In general, the most common type of hypertrophy is asymmet-rical hypertrophy, and it is followed by left ventricular hypertrophy (2). Also, in our study, we found the most common type of hyper-trophy as asymmetrical hypertrophy, but in contrast, there were no patients with left ventricular hypertrophy. This may be due to the small number of patients. Beta-blockers and ACEI/ARBs are the most commonly used medications among our patients. Beta-blockers are the first-line medications of treatment of the HCM (4). ACEI/ARBs are used in many conditions which may accompany such as hypertension, cor-onary artery disease, chronic kidney disease, or diabetes mellitus (12, 13). All these accompanying conditions are common among our patients. Although it remains ambiguous whether there is a positive as-sociation between HTN and HCM, literature shows statistically sig-nificant differences between HCM with or without accompanying HTN (14, 15). Another evaluation was done based on gene mutations. Al-though gene mutations are thought to be the founding cause of HCM, in our study, only three patients out of 11 were observed to have causative mutations (16). Two (18.18%) had MYBPC3 gene mutations and one (9.09%) had TTN gene mutations. Contrary, in a study by Richard et al. (17), 43% of the patients showed MYBPC3 gene mutations. Another study also showed MYBPC3 mutations in 39% of patients (10). Our limited number of patients may cause different results with the literature.  One of HCM’s main defining features and one of the biggest factors on its prognosis is LVOTO (18). In our study, LVOTO was observed in 45.45% of the patients. Maron et al. (19) saw the same factor in 25% of the patients in their study. Two (18.18%) of our patients had a history of myocardial in-farction (MI). MI may occur due to myocardial bridging, coronary circulatory insufficiency due to hypertrophy, or high diastolic pres-sure (20, 21). Since serum levels of troponin are elevated in both MI and HCM, these two patients may be misdiagnosed with MI. Also, it may cause the diagnosis of MI to be overlooked. Atrial fibrillation represents the most common sustained ar-rhythmia in both general and HCM populations (22). With the re-ported prevalence of 18-28%, AF appears to be 4 to 6 times more common in patients with HCM (22). In our study, AF was the most common type of arrhythmia with a 27.27% ratio, in line with the literature. Sudden cardiac death is the most frequent cause of sudden death among athletes and the most common cause of SCD is HCM among this population (20). There were one ventricular tachycardia and one SCD case in our study. Therefore, HCM patients should be followed up for SCD. Implantable cardioverter-defibrillators should be placed in patients with high HCM risk-SCD score. The small number of subjects is the main limitation of our study. Moreover, it is a retrospective, single-center study. A multi-center study or a more extensive period of time could have wielded results closer to those of current literature and could have been more illu-minating on various connections of different factors of HCM. Fur-ther research could include more detailed data on family histories and genetic markers of HCM. In conclusion, this study provided general information on the clinical and genetic characteristics of HCM. Further studies are needed to overcome the limitations and enlighten more of the nature of HCM, its accompanying factors, and their effects on the diagnosis.Ethics Committee Approval: This study was approved by the Scientific Re-search Ethics Committee of Trakya University School of Medicine (Protocol Code: TÜTF-BAEK 2020/440).Informed Consent: N/AConflict of Interest: The authors declared no conflict of interest. TTE Findings Female(mean ± SD)Male(mean ± SD)LV diastolic diameter (mm) 44 ± 1.67 45.67 ± 0.84Diastolic IVS thickness (mm) 16 ± 2.34 17 ± 2.66EF (%) 59 ± 1.87 60.17 ± 1.86LA diameter (mm) 36.80 ± 3.45 42.5 ± 1.17LV systolic diameter (mm) 26.20 ± 1.06 24.67 ± 1.49Diastolic posterior wall thickness (mm) 11.60 ± 1.02 13.33 ± 1.83Ascending aorta diameter (mm) 34.40 ± 3.32 31 ± 0.73Aortic root (mm) 21.5 ± 1.50 20.33 ± 1.45Table 5: Transthoracic echocardiogram findings’ distribution regarding patients’ gender.TTE: Transthoracic echocardiogram, SD: Standard deviation, LV: Left ventricle,IVS: Interventricular septum, EF: Ejection fraction, LA: Left atrium122Author Contributions: Concept: BB, BT, SK, CY, SA. Design: BB, BT, SK, CY, SA. Supervision: BB, BT, SK, CY, SA. Resources: BB, BT, SK, CY, SA. Materials: BB, BT, SK, CY, SA.  Data collection and/or processing: BB, BT, SK, CY, SA. Analysis and/or Interpretation: BB, BT, SK, CY, SA.  Literature Search: BB, BT, SK, CY, SA. Writing Manuscript: BB, BT, SK, CY, SA. Critical Review: BB, BT, SK, CY, SA.Financial Disclosure: The authors declared that this study received no fi-nancial support.Editor-in-Chief 's Note: Four of the authors of this article, Burak Bardakçı, Berfin Tan, Sarper Kızılkaya, Ceren Yüksel are members of the editorial board of Turkish Medical Student Journal. However, they did not take place at any stage of the editorial decision of the manuscript. The editors who evaluated this manuscript are from other institutions.REFERENCES1. Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP et al. Genetics of hypertrophic cardiomyopathy: a review of current state. Clin Genet 2018;93(1):3-14.2. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013;381(9862):242-55.3. Cruickshank S. Cardiomyopathy. Nurs Stand 2004;18(23):46-56.4. Teekakirikul P, Zhu W, Huang HC et al. Hypertrophic cardiomyopathy: an over-view of genetics and management. Biomolecules 2019;9(12):878.5. 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Evaluation of Demographic, Clinic and Genetic Characteristics of Patients Admitted to Trakya University Hospital With Hypertrophic Cardiomyopathy

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Evaluation of Demographic, Clinic and Genetic Characteristics of Patients Admitted to Trakya University Hospital With Hypertrophic Cardiomyopathy

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