Incidence Of Hypertrophic Cardiomyopathy Research Articles

Influence of Clinical Aspects and Genetic Factors on Feline HCM Severity and Development.

Hypertrophic cardiomyopathy (HCM), which is associated with thickening of the left ventricular wall, is one of the most common heart pathologies in cats. This disease has a hereditary etiology and is primarily related to mutations in the MYBPC3 and MYH7 genes. This study aims to determine the effect of the presence of heterozygosity or homozygosity for the p. A31P mutation (c.91G>C) in the MYBPC3 gene in cats (Maine Coon) of different ages referring to the HCM severity and development, and to compare echocardiographic data and various clinical aspects for the most objective detection of disease in cats of different breeds. The incidence of HCM was 59% of the 103 cases of heart disease in cats in this study. In 23 cats diagnosed with HCM, cats heterozygous for the mutation accounted for 34%, and homozygous cats accounted for 26%. Cats homozygous for this mutation had moderate to severe HCM, suggesting an association with high penetrance of HCM and a significant risk of cardiac death in this group. The penetrance of the heterozygous type was lower than that of the homozygous genotype. This study also indicates that HCM has some age-related penetrance. The disease did not occur in the study group of cats aged up to 1 year, whereas at the age of 7 and older, the percentage of animals diagnosed with HCM was the highest and amounted to 44.3% of the total number of studied cats with HCM.

Prevalence of Hypertrophic Cardiomyopathy in Neonates of Diabetic Mothers: A Six-month Follow-up Study

Background: Hypertrophic cardiomyopathy (HCM) is known to be the most common cardiac disorder in fetuses of diabetic mothers, especially when diabetes is not controlled in pregnancy. This study aimed as to estimate the prevalence of HCM in neonates born to diabetic mothers and to evaluate therapeutic interventions with follow-up after six months. We also focused on the possible association of neonatal HCM with the maternal type of diabetes.
 Methods: A cross-sectional study was conducted between October 2016, and September 2017, in the Cardiac Clinic of Yazd, a city in the center of Iran. The subjects were 150 neonates of mothers with diabetes. We determined HCM through fetal echocardiography before treatment and assessed the maternal and fetal factors. Finally, after a 6-month follow-up period, the data were analyzed statistically.
 Results: According to the results, the prevalence of HCM in neonates of diabetic mothers was 14% (P < 0.0001). The results showed that there is a relationship between maternal uncontrolled diabetes and the incidence of HCM in the infant (P < 0.0001), but there is no relationship between the type of diabetes and the incidence of HCM. Our results also showed that propranolol was effective in improving HCM, and spontaneous recovery of HCM was low in infants.
 Conclusion: We concluded that controlling maternal diabetes has the greatest effect on the prevention of HCM in neonates. Also, neonates of diabetic mothers need more heart tests and follow-ups. Therefore, more studies on the effects of maternal diabetes-induced HCM in neonates are needed.

Essential microelement (copper, selenium, zinc) status according to age and sex in healthy cats.

Although domestic cats are one of the most popular companion animals, current knowledge on the fate of micronutrients in cats according to their age, sex, and health is very limited. In this study, 72 whole blood and 54 plasma samples from cats of different ages and sex were collected at three veterinary offices in the Czech Republic, and the copper (Cu), selenium (Se), and zinc (Zn) concentrations were determined using inductively coupled plasma mass spectrometry (ICP-MS). The results showed that Cu was significantly (P < 0.05) higher in both plasma and whole blood of males (980 and 958 μg L-1 in plasma and whole blood, respectively) than in females (741 and 766 μg L-1 in plasma and whole blood, respectively), whereas no significant differences between males and females were found for Se and Zn. Similarly, no significant differences were recorded for any of the three elements according to age, although animals older than 7 years tended to have lower plasma concentrations of all three elements. Hypertrophic cardiomyopathy (HCM) is one of the most prevalent diseases of domestic cats. The potential relationship between the essential microelement status in the blood of cats with HCM vs. cats with no clinical signs of HCM was taken into account, but the limited number of HCM-positive individuals did not allow any clear conclusion. Thus, the potential relationships between micronutrient status in cats and the incidence of HCM should be elucidated in further research.

Fetal echocardiographic parameters in pregnancies complicated by diabetes: a case control study

BackgroundAt present, the prevalence of pregestational diabetes is 2.2% with an overall prevalence of hyperglycaemia in pregnancy of about 16.2%. Fetuses of diabetic mothers are at risk of functional cardiac abnormalities without structural cardiac anomalies especially in the third trimester. The main aim of this study was to assess the association of diabetes with different fetal echocardiographic parameters.MethodsA case control study comprising a total of 120 pregnant women (60 cases and 60 controls). The cases group included fetuses of mothers known to have pre-gestational type 2 diabetes (DM group) while the control group included fetuses of euglycaemic healthy pregnant women. They were examined twice at 23–24 weeks' gestation (visit 1) and followed up at 27–28 weeks’ gestation (visit 2). The Modified Myocardial Performance Index (Mod MPI) was obtained in all fetuses. Also, M-mode echocardiography was used to measure the interventricular septum thickness at diastole in a transverse four chamber view.ResultsThere was a significant increase in Iso-volumetric contraction time (ICT) (45.4 ms ± 8.9), Iso-volumetric relaxation time (IRT) (54.7 ms ± 11.22), Interventricular septal thickness (IVST) (4.08 mm ± 0.8), aortic acceleration time (AAT) (54.16 ms ± 12.77) and MPI (0.64 ± 0.09) in the diabetic group compared to the normal control group ICT (38.5 ms ± 9.59), IRT (46.13 ms ± 10.29), IVST (3.17 mm ± 0.6), AAT (49.73 ms ± 10.68) and MPI (0.5 ± 0.1) (all P values were < 0.001).When comparing parameters assessed at both visits among diabetic patients, there was a significant increase in IVST in the second visit (4.74 ± 0.78 mm) compared to the first visit (4.08 ± 0.8 mm) (P value < 0.05).The incidence of hypertrophic cardiomyopathy (HCM) was significantly higher in diabetic patients than in the control group. This is was observed in both first and second visit (33.4% and 56.7%) (P value < 0.001).ConclusionsFetuses of diabetic pregnant females show a significant increase in MPI, decrease in E\\A ratio and HCM. These alterations in cardiac functions and structure were found to be continuous throughout the period of time between the two visits.

Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide population-based cohort study.

Temporal trends of the prevalence and incidence of hypertrophic cardiomyopathy (HCM) have not been well established in Asian populations. Using the Korean National Health Insurance Services database, we identified patients with a confirmed diagnosis of HCM between 2010 and 2016. The annual prevalence and incidence of HCM, and their clinical characteristics were investigated. The prevalence of HCM has increased from 0.016% (n = 6313) in 2010 to 0.031% (n = 13,035) in 2016. During a 7-year period, 13,229 patients were newly diagnosed with HCM. The incidence rate increased from 4.15 (per 100,000 person-years) in 2010 to 5.6 in 2016. The prevalence and incidence of HCM increased with age and peaked during the 70s, with male predominance in all age groups. Chest pain is the most frequent clinical presentation followed by shortness of breath and syncope. Hypertension and dyslipidemia were the two most common comorbidities. Heart failure and atrial fibrillation was diagnosed in about 1/3 and 1/4 of patients with HCM, respectively. The prevalence and incidence of HCM gradually increased from 2010 to 2016, possibly due to heightened recognition of the disease. Given the progressively high incidence of HCM with age and high prevalence of coexisting modifiable risk factors, continued efforts are required to increase awareness regarding HCM-related symptoms and potential complications.

Primary prevention of sudden cardiac death in a low-risk child with familial hypertrophic cardiomyopathy: the role of cardiac magnetic resonance imaging

Sirs: The incidence of hypertrophic cardiomyopathy (HCM) is 0.2 %, and this condition is considered the most common genetic cardiovascular disease. In addition, HCM is one of the most common causes of sudden cardiac death (SCD) in young people [1]. An implantable cardioverter defibrillator (ICD) is a highly effective device for inhibiting ventricular tachyarrhythmias. It is generally agreed that the indications for an ICD strongly support the secondary prevention of SCD [2]. However, the indications for primary preventive ICD placement for SCD remain controversial. Recently, it has been shown that late gadolinium enhancement magnetic resonance imaging (LGE-MRI) can be used to evaluate myocardial fibrosis as an arrhythmic substrate [3, 4]. Here, we report a familial case of HCM in which we decided to place an ICD as primary prevention for SCD based on the LGE-MRI findings. The cases described are two brothers whose father and grandmother were diagnosed with HCM, and the elder brother of the father had a sudden death. Gene analysis was carried out in the father and the two brothers described here. An Ala63Val mutation in exon 2 of TPM1 gene, which encodes alpha tropomyosin, was found (Fig. 1a). The eldest brother in our two cases was 18 years old. He was diagnosed with HCM following medical screening at age 13. The interventricular septum diameter (IVSd) on echocardiography was 18.2 mm (Z-score was 8.5), which is far from the SCD risk criteria (over 30 mm) at age 18. LGE-MRI demonstrated diffuse contrast enhancement in the left ventricular myocardium. The extent of LGE was 8 % of the LV mass using previously reported methods [1] (Fig. 1b). The patient had been managed with mild limitation of physical activity. At the age of 18, he had syncope due to ventricular tachycardia (Fig. 1c) and was successfully resuscitated without any complications. Then, an ICD was implanted for secondary prevention of SCD. The youngest brother of the above-mentioned case was also diagnosed with HCM following medical screening at age 6. He has been managed by mild mobility limitation and treated by beta-blockers because a left ventricular outflow tract obstruction was detected by echocardiography. Though the extent of myocardial fibrosis using LGE-MRI was only 1 % of the LV mass at age 10, it markedly progressed to 16 % in 2 years (Fig. 1d). In addition, LGEMRI demonstrated a diffuse pattern of enhancement, similar to that observed in the elder brother. Because the presence of LGE was seen more strongly in the younger brother than in the elder brother, the younger brother was scheduled for the placement of a prophylactic ICD. The selection of patients for the primary prevention of SCD with an ICD has been predicated on the assessment of well-known five key risk factors, which were reported previously [2]. Recently, ACCF/AHA guidelines indicated primary prevention with the ICD a class IIa indication, based on the presence of one or more conventional key risk factors [5]. However, it is difficult to determine whether our case represents a form of primary prevention of SCD with an ICD because it was unclear whether the cause of sudden death in a family member was related to hypertrophic cardiomyopathy. In addition, there was no case of sudden death in a first-degree relative [2]. Recently, myocardial fibrosis detected by LGE-MRI was reported as a candidate for a new risk factor that may be able to predict SCD. Green et al. [6] mentioned that H. Yamazawa (&) A. Takeda K. Takei T. Furukawa Department of Pediatrics, Hokkaido University School of Medicine, North 15 West 7, Kitaku, Sapporo, Hokkaido 060-8638, Japan e-mail: h-yamazawa@umin.org

246: High incidence of hypertrophic cardiomyopathy and cardiac dysfunction in fetuses of diabetic mothers

246: High incidence of hypertrophic cardiomyopathy and cardiac dysfunction in fetuses of diabetic mothers

PREVALENCE AND TRENDS IN HEART DISEASES DURING THE PAST 8 YEARS (2004–2011) IN CHINA BASED ON AN ECHOCARDIOGRAPHY DATA

ObjectivesData about prevalence and trends in heart diseases during the recent years in China are lacking. Using a large echocardiography data in our center, the objective of the study was...

Using microarray to diagnose Noonan Syndrome and predict phenotype

Patient NM was referred to the Geneticists following an ophthalmology appointment where dysmorphic features were noted. Patient NM was born at 40 weeks gestation following a normal pregnancy weighing 3220 g (25th centile). His first day check was unremarkable. There is no consanguinity and his female sibling is fit and well. There is a family history of squint. On examination, he was documented as having the following dysmorphic features: low set ears, hypertelorism, down slanting palpable fissures, broad forehead, short neck, broad chest with wide spaced nipples, foetal fingertip pads and undescended testes. On auscultation of his chest, patient NM had a pan-systolic murmur but no other stigmata of cardiac disease. An echo showed a tiny low muscular ventricular septal defect which was of no clinical concern. Developmental examination at 18 months revealed a globally delayed child. Patient NM was unable to walk but had been pulling to stand since 15 months. He did not have any language nor use gestures. He had only recently progressed to textured foods. There was no concern with hearing. He continued to be reviewed by the ophthalmologists for astigmatism, hypermetropia and an alternating divergent squint and he wears a pair of prescription glasses. Genetic testing of patient NM included a microarray which revealed a 3p duplication including the RAF1 gene and a diagnosis of Noonan Syndrome was made. There is a much higher incidence of hypertrophic cardiomyopathy in patients with RAF1 mutations and therefore this investigation not only confirmed the clinical suspicion but will also determine future monitoring. An array is a relatively new high resolution test for looking at all 46 chromosomes simultaneously and is slowing replacing the traditional karyotype. It looks for added chromosomes (duplications) or missing chromosomes (deletions) and hence specific genes that are duplicated or deleted can be identified. As in this case, it can help predict phenotype and may prevent further unnecessary investigations. However, arrays may pick up harmless changes that are common in the general population (copy number variants) which may make interpretation difficult. It is also a more expensive test and takes longer to yield a result.

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

hypertrophic cardiomyopathy (HCM) is a major cause of sudden death in young athletes and one of the most common inherited cardiovascular diseases, affecting 1 in 500 individuals. Often viewed as a disease of the cardiac sarcomere, mutations in genes encoding myofilament proteins are associated with disease pathogenesis. Despite a clinically available genetic test, a significant portion of HCM patients remain genetically unexplained. We sought to determine the spectrum and prevalence of mutations in PLN-encoded phospholamban in a large cohort of HCM cases as a potential cause of mutation-negative HCM. comprehensive genetic interrogation of the promoter and coding region of PLN was conducted using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct DNA sequencing. one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM, previously found to be negative for the current HCM genetic test panel. This mutation cosegregated with incidence of HCM in a multigenerational family. Compared with similar studies, we identified an overall yield of PLN-HCM mutations of 0.65%, similar to 3 genes that are part of current HCM genetic test panels. We did not observe any PLN coding sequence genetic variation in 600 reference alleles. overall, mutations in PLN are rare in frequency, yet the small size of the genetic locus may make it amenable to inclusion on HCM gene test panels, especially because the frequency of background genetic variation among otherwise healthy subjects appears negligible. The exact role of mutations in PLN and other calcium-handling proteins in the development of HCM warrants further investigation.

The Master Female Athlete

The Master Female Athlete

Left ventricular aneurysm without coronary artery disease, incidence and clinical features: clinical analysis of 11 cases.

To examine the incidence, underlying disease and clinical features of left ventricular aneurysm (LVA) not related to coronary artery occlusion. Retrospective review of consecutive patients who underwent both left ventriculography and coronary angiography. LVA was confirmed in 11 of 2,348 consecutive patients (0.47%). The location of LVA was mainly in the apical region (81.8%). In five of the 11 patients (45.5%), the underlying heart disease was hypertrophic cardiomyopathy (HCM), including 4 patients of dilated phase and one patient of midventricular type. The serial ECG changes from left ventricular hypertrophy to abnormal Q wave and endomyocardial biopsy were useful for the differential diagnosis of these cases against myocardial infarction. The underlying disease of the remaining patients was: myocarditis (2 patients), arrhythmogenic right ventricular dysplasia (1 patient), Chagas' disease (1 patient), glycogen storage disease (1 patient), and sarcoidosis (1 patient). Ventricular tachycardia appeared in 9 of 11 cases (81.8%) including 2 patients with sustained ventricular tachycardia. LVA formation without coronary artery disease was a rare phenomenon. The underlying disease was varied but the incidence of hypertrophic cardiomyopathy in the dilated phase was comparatively high. Ventricular tachycardia was a significant complication in these patients.

Hypertrophic cardiomyopathy in Noonan syndrome.

Noonan syndrome, a well-known multiple congenital anomalies syndrome, is frequently accompanied by cardiovascular diseases including hypertrophic cardiomyopathy (HCM). The incidence of HCM in Noonan syndrome is approximately 20-30% and one-third of cases reveal ventricular outflow obstruction. HCM in Noonan syndrome is occasionally associated with a congenital heart defect, whereas classic HCM seldom accompanies cardiac malformations. Asymmetric septal hypertrophy and symmetric septal hypertrophy (concentric hypertrophy) can be observed both in HCM with Noonan syndrome and in classic HCM, but apical hypertrophy has not been reported in Noonan syndrome yet, although it appears in classic HCM. Congestive heart failure is the major cause of death in patients with HCM in Noonan syndrome, but cases of sudden death have also been reported. The histopathologic findings of ventricular myocardial tissue in HCM with Noonan syndrome are similar to those in classic HCM.

Incidence of hypertrophic cardiomyopathy in hypothyroidism.

In 13 consecutive severely hypothyroid patients no sign of endocrine cardiomyopathy in the form of asymmetric septal hypertrophy (ASH) could be disclosed by M-mode and two-dimensional (2D) echocardiography on examination prior to thyroxine replacement therapy. In previous investigations ASH was demonstrated to be almost invariably present in untreated hypothyroidism irrespective of thyrotropin levels. Consequently application of positive inotropic and afterload reducing agents that may invoke deleterious effects in ASH has been considered hazardous in hypothyroidism even when indicated by concurrent other heart disease. Determination of exact confidence limits reveals that the proportional incidence of hypothyroid hypertrophic cardiomyopathy could not exceed 24.7% with 95% probability. We conclude that ASH is not necessarily inherent in hypothyroidism.

Hyperthyroidism and Familial Hypertrophic Cardiomyopathy

A kindred with a high incidence of hypertrophic cardiomyopathy (HC) was studied to identify the presence of clinical hyperthyroidism. Two and possibly three members with HC had associated hyperthyroidism. In the propositus, clinical, ECG, and vectorcardiographic evidence for HC resolved after treatment of the hyperthyroidism. We hypothesize that the disproportionately high correlation of hyperthyroidism and HC and the resolution found in the propositus after treatment may indicate that antithyroid therapy should be considered in this form of cardiomyopathy.