Asymmetric Septal Hypertrophy Research Articles

Hypertrophic cardiomyopathy in Duchenne muscular dystrophy: a case series.

Duchenne muscular dystrophy is characterised by fibrofatty replacement of muscle, resulting in dilated cardiomyopathy. Hypertrophic cardiomyopathy affects 1:200-1:500 people and is characterised by asymmetric ventricular septal hypertrophy. To date, there have been two separately reported cases describing the combined pathology of these disorders. Herein, we expand upon these reports with a case series describing longitudinal findings in three patients with Duchenne muscular dystrophy who developed hypertrophic cardiomyopathy.

Abstract 4138690: A Case of Hypertrophic Cardimyopathy: Digenic Variants of Uncertain Significance Mutations in MHY7 and RYR2 Genes

Introduction: Hypertrophic Cardiomyopathy (HCM) is primarily a disease caused by mutations in single genes, but around 5% of HCM patients, exhibit 2 (digenic) or more (oligogenic) causal mutations in the same gene or in different genes. We present a case of familial HCM with variants of uncertain significance (VUS) mutations in the MYH7 and RYR2 genes, highlighting the complexity of genetic inheritance and its implications on disease severity. Case presentation: A 40-year-old male presented with a history of hypertension, HCM, and two prior myocardial infarctions. He had syncope, non-sustained ventricular tachycardia, and a family history of sudden cardiac death (SCD) in his maternal grandfather. A dual-chamber ICD was placed for primary prevention of SCD because of his high-risk profile. Echocardiography demonstrated normal LV size and function with moderate asymmetric septal hypertrophy. Cardiac MRI indicated diffuse asymmetric hypertrophy and a 10.9% LV myocardial scar burden. Left heart catheterization revealed normal coronary arteries with LVOT gradient up to 60 mmHg, consistent with HCM. Genetic testing revealed VUS in the MYH7 (c.1305G>A, p.Met435Ile) and RYR2 (c.10528C>A, p.Arg3510Ser) genes (Figure 1). Further family genetic testing confirmed these VUS mutations in multiple relatives (Figure 2). Discussion: The identification of VUS mutations in MYH7 and RYR2 genes in multiple family members highlights the complexity of genetic inheritance in HCM. These findings underscore the challenges in clinical interpretation and risk stratification, as the co-occurrence of mutations in different genes may have synergistic effects on disease severity and phenotype expression. Comprehensive genetic evaluation, including family studies, is crucial for understanding the clinical significance of these mutations and guiding personalized management strategies. Further research is needed to elucidate the impact of VUS mutations on the clinical outcomes of HCM patients.

Determinants of right ventricular - pulmonary arterial uncoupling in hypertrophic cardiomyopathy

Abstract Background Right ventricular (RV) – pulmonary arterial (PA) coupling, assessed by echocardiography, is a non-invasive surrogate on how the RV is adapted to an increased afterload in the pulmonary circulation. In cases of exhaustion of compensatory RV remodeling, the ratio decreases and there is RV-PA uncoupling. Our objective was to identify what are the determinants of this parameter in patients with hypertrophic cardiomyopathy (HCM). Methods This prospective cohort study enrolled patients with HCM without obstructive epicardial coronary artery disease, that underwent a comprehensive evaluation. Echocardiography was used to assess RV-PA coupling as the ratio of tricuspid annular plane systolic excursion (TAPSE) to pulmonary artery systolic pressure (PASP). In addition, coronary flow reserve in the left anterior descending artery (CFR_LAD) was also evaluated: diastolic coronary flow velocity was measured in basal conditions and in hyperemia and CFR was calculated as the ratio of hyperemic and basal peak diastolic flow velocities. This was used as a surrogate marker of coronary microvascular dysfunction. Cardiac magnetic resonance (CMR) was also performed to evaluate RV function (volumes and ejection fraction), and the extent of late gadolinium enhancement (LGE) in the left ventricle (LV). Results We enrolled 62 patients, with a mean age of 55 (15) years, 64% males. In 64% it was an asymmetrical septal hypertrophy phenotype, in 31% an apical hypertrophy, and in 27%, it was an obstructive HCM. Mean TAPSE/PASP was 0.556 (0.23) and median was 0.50. All patients had a normal LV ejection fraction. Univariable linear regression analysis showed that age, maximal wall thickness, E/E’, indexed left atrial volume (LAVi), CFR-LAD, %LGE and % hypoperfusion (by CMR) were correlated with RV-PA uncoupling. The HCM phenotype or the presence of obstruction were not associated with uncoupling. Multivariable stepwise linear regression analysis showed that the independent predictors of RV-PA uncoupling were age (b-estimate: - 0.180, p=0.009), LAVi (b-estimate: -0.645, p=<0.001), CFR-LAD (b-estimate: 0.183, p=0.011) and %LGE (b-estimate: -0.270, p=<0.001). Conclusion In patients with HCM, the presence of coronary microcirculation abnormalities and the extent of LGE in the LV are independent predictors of RV-PA uncoupling.

Clinical and genetic associations of asymmetric apical and septal left ventricular hypertrophy.

Increased left ventricular mass has been associated with adverse cardiovascular outcomes including incident cardiomyopathy and atrial fibrillation. Such associations have been studied in relation to total left ventricular hypertrophy, while the regional distribution of myocardial hypertrophy is extremely variable. The clinically significant and genetic associations of such variability require further study. Here, we use deep learning-derived phenotypes of disproportionate patterns of hypertrophy, namely, apical and septal hypertrophy, to study genome-wide and clinical associations in addition to and independent from total left ventricular mass within 35 268 UK Biobank participants. Using polygenic risk score and Cox regression, we quantified the relationship between incident cardiovascular outcomes and genetically determined phenotypes in the UK Biobank. Adjusting for total left ventricular mass, apical hypertrophy is associated with elevated risk for cardiomyopathy and atrial fibrillation. Cardiomyopathy risk was increased for subjects with increased apical or septal mass, even in the absence of global hypertrophy. We identified 17 genome-wide associations for left ventricular mass, 3 unique associations with increased apical mass, and 3 additional unique associations with increased septal mass. An elevated polygenic risk score for apical mass corresponded with an increased risk of cardiomyopathy and implantable cardioverter-defibrillator implantation. Apical and septal mass may be driven by genes distinct from total left ventricular mass, suggesting unique genetic profiles for patterns of hypertrophy. Focal hypertrophy confers independent and additive risk to incident cardiovascular disease. Our findings emphasize the significance of characterizing distinct subtypes of left ventricular hypertrophy. Further studies are needed in multi-ethnic cohorts.

Asymmetrical Septal Hypertrophy diagnosed by MRI: a case report

Asymmetrical Septal Hypertrophy diagnosed by MRI: a case report

Accurate diagnosis of apical hypertrophic cardiomyopathy using explainable advanced electrocardiogram analysis.

Typical electrocardiogram (ECG) features of apical hypertrophic cardiomyopathy (ApHCM) include tall R waves and deep or giant T-wave inversion in the precordial leads, but these features are not always present. The ECG is used as the gatekeeper to cardiac imaging for diagnosis. We tested whether explainable advanced ECG (A-ECG) could accurately diagnose ApHCM. Advanced ECG analysis was performed on standard resting 12-lead ECGs in patients with ApHCM [n = 75 overt, n = 32 relative (<15 mm hypertrophy); a subgroup of which underwent cardiovascular magnetic resonance (n = 92)], and comparator subjects (n = 2449), including healthy volunteers (n = 1672), patients with coronary artery disease (n = 372), left ventricular electrical remodelling (n = 108), ischaemic (n = 114) or non-ischaemic cardiomyopathy (n = 57), and asymmetrical septal hypertrophy HCM (n = 126). Multivariable logistic regression identified four A-ECG measures that together discriminated ApHCM from other diseases with high accuracy [area under the receiver operating characteristic (AUC) curve (bootstrapped 95% confidence interval) 0.982 (0.965-0.993)]. Linear discriminant analysis also diagnosed ApHCM with high accuracy [AUC 0.989 (0.986-0.991)]. Explainable A-ECG has excellent diagnostic accuracy for ApHCM, even when the hypertrophy is relative, with A-ECG analysis providing incremental diagnostic value over imaging alone. The electrical (ECG) and anatomical (wall thickness) disease features do not completely align, suggesting that future diagnostic and management strategies may incorporate both features.

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caused by pathogenic variants in the core sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association and syndrome-associated genes is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management. The yield of genetic testing for a disease-causing variant is 30% in sporadic cases and up to 60% in familial cases and in younger patients with typical asymmetrical septal hypertrophy. Genetic testing remains challenging in the interpretation of results and classification of variants. Therefore, in 2015 the American College of Medical Genetics and Genomics (ACMG) established guidelines to classify and interpret the variants with an emphasis on the necessity of periodic reassessment of variant classification as genetic knowledge rapidly expands. The current guidelines recommend focused cascade genetic testing regardless of age in phenotype-negative first-degree relatives if a variant with decisive evidence of pathogenicity has been identified in the proband. Genetic test results in family members guide longitudinal clinical surveillance. At present, there is emerging evidence for genetic test application in risk stratification and management but its implementation into clinical practice needs further study. Promising fields such as gene therapy and implementation of artificial intelligence in the diagnosis of HCM are emerging and paving the way for more effective screening and management, but many challenges and obstacles need to be overcome before establishing the practical implications of these new methods.

Transaortic septal myectomy at the time of aortic valve replacement for severe aortic stenosis: a case series of 55 cases

Abstract Introduction Symptomatic aortic valve stenosis (AS) is associated with asymmetric basal septal hypertrophy (ABSH) in 10% of cases. In this cohort, it has been suggested that rectification of the left ventricular outflow tract obstruction (LVOTO) by concomitant septal myectomy (CSM) can improve the results of aortic valve replacement (AVR). Objective This study aims to present the technique of AVR with CSM for severe AS with ABSH and to determine the associated early and late post-operative outcomes. Methods Fifty-five patients were prospectively recruited to undergo AVR with CSM between 2011 and 2021 at two centres. The primary outcomes were mortality within 30 days, incidence of post-operative ventricular septal defects (VSD) and prosthetic valve sizing. The secondary outcomes were in-hospital complications, permanent pacemaker implantation (PPI), survival at 15 months and changes on transthoracic echocardiogram. Results Post-operative mortality was 1.8% and this figure was unchanged at 15-month follow-up. No patients developed a post-operative VSD. Intra-operatively, it was found that in 94.6% cases the direct valve sizing increased by one, when compared to the measurement made before CSM. The indexed effective orifice area (iEOA) was &gt; 85 cm2/m2 in 96.4% and no patients had an iEOA ≤ 0.75 cm2/m2. Four patients (7.3%) required PPI due to complete atrioventricular block. Conclusion AVR with CSM is a simple technique that can be utilised in severe AS with ABSH. There does not appear to be an increase in mortality or incidence of iatrogenic VSDs. Importantly, CSM allows for the implantation of a larger aortic valve compared to measurements made before CSM.

Electrophysiological mechanisms underlying T wave pseudonormalisation on stress ECGs in hypertrophic cardiomyopathy

BackgroundPseudonormal T waves may be detected on stress electrocardiograms (ECGs) in hypertrophic cardiomyopathy (HCM). Either myocardial ischaemia or purely exercise-induced changes have been hypothesised to contribute to this phenomenon, but the precise electrophysiological mechanisms remain unknown. MethodsComputational models of human HCM ventricles (n = 20) with apical and asymmetric septal hypertrophy phenotypes with variable severities of repolarisation impairment were used to investigate the effects of acute myocardial ischaemia on ECGs with T wave inversions at baseline. Virtual 12-lead ECGs were derived from a total of 520 biventricular simulations, for cases with regionally ischaemic K+ accumulation in hypertrophied segments, global exercise-induced serum K+ increases, and/or increased pacing frequency, to analyse effects on ECG biomarkers including ST segments, T wave amplitudes, and QT intervals. ResultsRegional ischaemic K+ accumulation had a greater impact on T wave pseudonormalisation than exercise-induced serum K+ increases, due to larger reductions in repolarisation gradients. Increases in serum K+ and pacing rate partially corrected T waves in some anatomical and electrophysiological phenotypes. T wave morphology was more sensitive than ST segment elevation to regional K+ increases, suggesting that T wave pseudonormalisation may sometimes be an early, or the only, ECG feature of myocardial ischaemia in HCM. ConclusionsIschaemia-induced T wave pseudonormalisation can occur on stress ECG testing in HCM before significant ST segment changes. Some anatomical and electrophysiological phenotypes may enable T wave pseudonormalisation due to exercise-induced increased serum K+ and pacing rate. Consideration of dynamic T wave abnormalities could improve the detection of myocardial ischaemia in HCM.

Phenotype-genotype discordance in patients with hypertrophic cardiomyopathy: clinical and echocardiographic correlates

Abstract Introduction Hypertrophic cardiomyopathy (HCMP) is a common genetic disorder characterized by asymmetric septal hypertrophy (ASH) on echocardiography. However, the diagnosis of HCMP can be challenging, as not all patients with ASH have a pathogenic genetic mutation. Purpose The aim of this study was to investigate the clinical and echocardiographic correlates of phenotype-genotype discordance in patients with HCMP feature in clinical field. Methods The study included 28 patients with an HCM phenotype confirmed by echocardiography with ASH. The patients underwent whole exome sequencing (WES) for genetic testing, were divided into two groups based on the presence (concordance group) or absence (discordance group) of a pathogenic mutation on WES. Echocardiographic parameters, including interventricular septum thickness at end-diastole (IVSd), interventricular septum thickness at end-systole (IVSs), posterior wall thickness at end-diastole (PWd), posterior wall thickness at end-systole (PWs), and global average strain (GAS), were compared between the two groups. Receiver operating characteristic (ROC) curve analysis was performed to identify the echocardiographic parameters that could predict genotype discordance. Results Only 11 out of 28 patients (39%) showed an HCM genotype result by WES. The discordance group (n=17) showed significantly higher PWd (p=0.001), PWs (p=0.005) and lower left ventricle mass (p=0.024) than the concordance group (n=11). The discordance group also showed a decreased tendency in GAS compared to the concordant group. In ROC curve analysis, PWd could reversely predict the phenotype-genotype concordance with a sensitivity of 81.8% and specificity of 71.4% (area under the curve=0.841, p=0.004). Conclusion The study suggests that there is a high discordance rate between phenotype and genotype in patients with HCM. Echocardiographic parameters, especially PWd and PWs, may be useful in predicting phenotype-genotype discordance. These findings have important implications for clinical management and genetic counseling in patients with suspected HCMP.

Abstract 18100: Comparative Analysis of Right Ventricular (RV) Apical Pacing versus Physiologic Left Bundle Branch Area Pacing (LBBAP) in Hypertrophic Cardiomyopathy With Left Ventricular Outflow Tract Obstruction (LVOTO): A Case Study

Introduction: AV dyssynchrony is considered advantageous in HoCM patients requiring pacemaker therapy. The impact of physiologic pacing, particularly LBBAP, on LVOTO in HoCM remains unexplored. We present a patient highlighting the effect of LBBAP on LVOTO. Case: A 69-year-old female with HoCM (resting gradient ~130mmHg) and asymmetric septal hypertrophy (17mm), managed conservatively due to high surgical risk. She had persistent AF, accompanied by debilitating fatigue and palpitations. Due to unsuccessful treatment with sotalol, dofetilide, and 5 DCCV procedures, other treatment options were discussed. She opted for LBBA pacing and AV node ablation. Dual chamber device was implanted utilizing a Medtronic 3830 lead. Within 48 hours of discharge, she came to the ER with exertional dyspnea and lightheadedness, indicating ambulatory cardiogenic shock (BP: 78/66 mmHg). A stat echo showed LVEF of 75%, severe SAM, LVOT gradient of 179 mmHg, and severe MR. No pericardial effusion. Phenylephrine was initiated, and VVIR rate was decreased from 90 bpm to 60 bpm, but no BP improvement. Obstructive cardiogenic shock from worsened LVOTO was likely caused by physiologic LBBAP. To objectively demonstrate this, she underwent a brief study in the lab after informed consent. We inserted a temporary RV apical pacing lead and assessed LVOT gradients at rest and during exercise for both physiologic pacing and RV apical pacing. RV apical pacing had lower LVOT gradient at rest and exercise compared to LBBA pacing (Figure 1). LBBA lead was extracted and a CRT-P device implanted and programmed for optimal dyssynchrony. Discussion: Traditional RV apical pacing is superior to physiologic LBBAP in HoCM. Limited studies suggest biventricular pacing reduces LVOT gradient, but CRT is not superior to RV pacing. LBBA pacing may be contraindicated in LVOTO patients. Conclusion: In HCM patients with LVOTO, RV apical pacing appears superior to LBBAP, reducing LVOT gradient at rest and during exercise.

Obstructive hypertrophic cardiomyopathy: a review of new therapies.

Hypertrophic cardiomyopathy (HCM) is a phenotypically heterogeneous disease with a genetic basis and variable penetrance. The hallmarks of HCM include dynamic left ventricular outflow tract obstruction, typically caused by asymmetric septal hypertrophy. However, abnormal papillary muscle placement, abnormal mitral valve and subvalvular apparatusand apical hypertrophic forms have also been described. Typical medical treatment has been stagnant for decades, although there have been significant advances in surgical treatment of patients with obstructive HCM. Herein, we describe a new class of drugs targeting the specific pathophysiology of HCM.

Transapical beating-heart septal myectomy for recurrent left ventricular outflow tract obstruction after septal reduction therapy in hypertrophic obstructive cardiomyopathy.

We present a case of a 58-year-old man for surgical myectomy due to recurrent left ventricular outflow tract (LVOT) obstruction, who had prior transaortic septal myectomy and embolization of the septal branch. On admission, transthoracic echocardiography showed a typical hypertrophic obstructive cardiomyopathy (HOCM) with asymmetric septal hypertrophy, significant LVOT obstruction, and severe mitral regurgitation (MR) due to the systolic anterior movement (SAM) of the anterior mitral valve leaflet. We performed a novel procedure of the transapical beating-heart septal myectomy (TA-BSM), following which the LVOT obstruction was resolved. And a decreased grade of SAM and a reduction in the severity of MR were observed.

Perinatal factors impacting echocardiographic left ventricular measurement in small for gestational age infants: a prospective cohort study

IntroductionInfants born small for gestational age (SGA) have an increased risk of developing various cardiovascular complications. While many influencing factors can be adjusted or adapt over time, congenital factors also have a significant role. This study, therefore, seeks to explore the effect of perinatal factors on the left ventricular (LV) parameters in SGA infants, as assessed immediately after birth.Methods and materialsThis single-center prospective cohort study, conducted between 2014 and 2018, involved healthy SGA newborns born > 35 weeks’ gestation, delivered at New York-Presbyterian Brooklyn Methodist Hospital, and a gestational age (GA)-matched control group of appropriate for gestational age (AGA) infants. Data analysis was performed using multivariate linear regression in STATA.ResultsThe study enrolled 528 neonates, 114 SGA and 414 AGA. SGA infants exhibited a mean GA of 38.05 weeks (vs. 38.54), higher male representation (69.3% vs. 51.5%), lower birth weight (BW) (2318g vs 3381g), lower Apgar scores at birth, and a higher rate of neonatal intensive care unit admission compared to AGA infants (41.2% vs.18.9%; p<0.001). Furthermore, SGA infants were more likely to be born to nulliparous women (63.16% vs. 38.16%; p<0.001), with lower body mass index (BMI) (29.8 vs. 31.7; p=0.004), a lower prevalence of gestational maternal diabetes (GDM) (14.9 % vs. 35.5%; p<0.001), and a higher prevalence of preeclampsia (18.4 % vs. 6.52%; p<0.001). BW was identified as the most significant predictor affecting most LV parameters in this study (p<0.001), except shortening fraction, asymmetric interventricular septal hypertrophy and Inter-ventricular septal thickness/LV posterior wall ratio (IVS/LVPW). Lower GA (coefficient = -0.09, p=0.002), insulin use in GDM (coefficient = 0.39, p=0.014), and low APGAR scores at 1 minute (coefficient = -0.07, p<0.001) were significant predictors of IVS during diastole (R-squared [R2]=0.24). High maternal BMI is marginally associated with LVPW during systole (R2=0.27, coefficient = 0.01, p=0.050), while male sex was a significant predictor of LV internal dimension during diastole (R2=0.29, p=0.033).ConclusionThis study highlights the significant influence of perinatal factors on LV parameters in SGA infants, with BW being the most influential factor. Although LV morphology alone may not predict future cardiovascular risk in the SGA population, further research is needed to develop effective strategies for long-term cardiovascular health management in this population.

Case Report: Late Presentation of Hypertrophic Cardiomyopathy in a 65- Year- Old Sudanese Man at Royal Care International Hospital

Background: HCM Syndrome is a left ventricle hypertrophic in the absence of another cardiac or other systemic condition. An epidemiologic study reported that the prevalence of HCM is 0.02in the general population. Case Presentation: We report a case report of a 65- year- old man who was referred to the clinic after presenting with a typical symptom. Past medical history and family history were insignificant. Echocardiography showed asymmetrical basal septal hypertrophy with a preserved ejection fraction of 65%. The patient was asymptomatic with no functional limitation but later developed atrial fibrillation with mild diastolic heart failure, which was treated by pharmacological medication and cardio version. Conclusion: In conclusion, the earlier the diagnosis, better the prognosis. HCM has a lot of complications including atrial fibrillation. Therefore, awareness of how often AF and other arrhythmias are associated with HCM patients will lead to lower mortality as a follow-up ECG and echocardiography can be performed to prevent subsequent complications.

Exaggerated myocardial torsion may contribute to dynamic left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.

Dynamic left ventricular (LV) outflow tract obstruction (LVOTO) is associated with symptoms and increased risk of developing heart failure in hypertrophic cardiomyopathy (HCM). The association of LVOTO and LV twist mechanics has not been well studied in HCM. The aim of the study was to compare the pattern of LV twist in patients with HCM associated with asymmetrical septal hypertrophy with and without LVOTO. Echocardiography (including speckle tracking) was performed in 212 patients with HCM, divided according to the absence (n = 130) or presence (n = 82) of LVOTO (defined as peak pressure gradient ≥30 mmHg either at rest and/or with Valsalva manoeuvre). Patients with LVOTO were older, had smaller LV dimensions, a higher LV ejection fraction (LVEF), a longer anterior mitral valve leaflet length, and a higher early transmitral pulsed wave to septal tissue Doppler velocity ratio (E/E'). A univariate analysis showed that peak twist was significantly higher in patients with LVOTO compared with patients without LVOTO (19.7 ± 7.3 vs. 15.7 ± 6.0, P = 0.00015). Peak twist was similarly enhanced in patients with LVOTO, manifesting only during Valsalva (19.2 ± 5.6, P = 0.007) and patients with resting LVOTO (19.9 ± 8.0, P = 0.00004) compared with patients without LVOTO (15.7 ± 6.0). A stepwise forward logistic regression analysis showed that LVEF, LV end-systolic dimension indexed to body surface area, anterior mitral valve leaflet length, E/E', and peak twist were all independently associated with LVOTO. This study demonstrates that increased peak LV twist is independently associated with LVOTO in patients with HCM. Peak twist was similarly exaggerated in patients with only latent LVOTO, suggesting that it may play a contributory role to LVOTO in HCM.

A Prospective Observational Study to Evaluate Cardiovascular Changes in Patients of Hypothyroidism.

Introduction Hypothyroidism is a common endocrine disorder in India and is easy to diagnose based on clinical manifestations and signs. Thyroid hormone affects the cardiovascular system. Fatiguability, dyspnea, weight gain, lower limb swelling, and bradycardia are some clinical manifestations. ECG changes in hypothyroidism include sinus bradycardia, prolonged QTc interval, changes in the morphology of the T-wave, QRS duration, and low voltage. Echocardiography changes include diastolic dysfunction, asymmetrical septal hypertrophy, and pericardial effusion. This study aimed to examine the cardiovascular changes in patients with hypothyroidism. Methodology Patients with hypothyroidism and cardiovascular changes were assessed using an electrocardiogram and echocardiography. Results A total of 68 hypothyroid patients were enrolled in the study. The mean age of patients was 41.93 ± 15.36 years, and the mean BMI was 24.64 ± 4.30 kg/m2. Of 68 hypothyroid patients, 57 (83.8%) were females, and 11 (16.2%) were males. The mean thyroid-stimulating hormone (TSH) level in the study population was 11.48 ± 22.02 (mIU/mL). The most common symptoms reported among the study participants were tiredness or weakness (67.6%), followed by dyspnea (42.6%). The mean pulse rate, systolic blood pressure, and diastolic blood pressure were 81.50 ± 16.16, 112.76 ± 7.05, and 70.68 ± 7.46, respectively. Pallor was the most common sign (22.1%) among all the people who participated in the study. The most common findings on the ECG were low voltage complexes (25%) followed by inversion of the T wave (23.5%). Other ECG findings were bradycardia (10.3%), right bundle branch block (7.4%), and QRS prolongation (2.9%). Echocardiography revealed 21 (30.8%) patients with grade 1 left ventricular diastolic dysfunction and pericardial effusion in two patients (2.94%). There was a significantly greater increase in the level of TSH in study participants. Conclusion Patients with abnormal ECG and echocardiography without other cardiovascular changes should be evaluated for hypothyroidism to improve the quality of care.

The Association of Maternal Glycemic Control with Hypertrophic Cardiomyopathy in Infants of Diabetic Mothers

Background: Infants of Diabetic Mothers (IDMs) are at known risk for the development of hypertrophic cardiomyopathy (HCM). Echocardiography is essential for the diagnosis of HCM, to assess the left ventricular function, and the degree of left ventricle obstruction, and to rule out structural cardiac malformations.&#x0D; Objective: To study the association of maternal third-trimester glycemic level with HCM in IDMs.&#x0D; Study Design: Observational cross-sectional study.&#x0D; Participants: 108 diabetic mothers and IDMs.&#x0D; Intervention: Third-trimester Glycosylated hemoglobin (HbA1c) levels were measured and Echocardiography was done for IDMs in their first week of life. Data were analyzed for correlations between various parameters.&#x0D; Outcomes: HCM was diagnosed when the absolute value of Inter Ventricular Septum (IVS) was ≥ 2SD from the mean (5mm) and Asymmetrical Septal Hypertrophy (ASH) was diagnosed when the IVS: LVPW ratio was ≥ 1.3.&#x0D; Results: 85% of the study population had gestational diabetes, and 55.6% of them were on diet control only. The mean HbA1c was 6.69%. The mean birth weight was 3.1 kg. The most common complication observed was hypoglycemia (19.4%). Asymptomatic HCM was seen in 52% and ASH in 25.9% of the study population. HCM was found to be significantly associated with maternal HbA1c levels, birth weight and hypoglycemia.&#x0D; Conclusion: HCM is a frequent finding in IDMs when routinely screened by echocardiography. A significant positive association of HCM with maternal glycemic control was seen in our study and hence strict glycemic control during pregnancy is of paramount significance.

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature.

Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

Is There Any Correlation Between QT Dispersion and Echocardiographic Indices in Term Neonates with and Without Maternal Gestational Diabetes Mellitus?

Background: Gestational diabetes mellitus (GDM) can cause diastolic dysfunction and asymmetric ventricular septal hypertrophy in infants of gestational diabetic mothers (IGDMs). Ventricular thickness can affect QT interval and other QT parameters. Objectives: This study aimed to evaluate and compare the duration of QT, corrected QT (QTc), QT dispersion (QTD), and echocardiographic indices in two groups of neonates of mothers with and without GDM. Methods: In this case-control study, 76 term neonates were enrolled. The case group (n = 38) included IGDM, and the control group (n = 38) included neonates born to healthy mothers. The QT, QTD, and QTc were calculated based on electrocardiographic results. Ejection fraction (EF), interventricular septal thickness at the end of diastole (IVSTD), left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), and left ventricular posterior wall thickness (LVPWT) were evaluated by performing echocardiography, and the two groups were compared regarding them. Data were analyzed using SPSS version 21. Results: In this study, neonates' mean age and weight were 4.18 ± 1.3 days and 3418.16 ± 549.24 grams, respectively. As for the gender of neonates, 68.4% in the case group and 47.4% in the control group were female. The two groups had no significant difference regarding age, weight, and sex (P &gt; 0.05). Minimum QTc (QTc min) was significantly higher in the case group (P = 0.046). Considerably lower EF and higher IVSTD were found in the case group (P = 0.011 and P = 0.05 respectively). In univariate analysis, echocardiographic parameters were not the predictors of QTD (P &gt; 0.05); in multivariate analysis, however, QTD was significantly correlated with LVEDD (P = 0.001) and LVESD (P = 0.015). Conclusions: A higher proportion of septal hypertrophy was detected in IGDMs compared to infants of the healthy mothers without any correlation with ECG indices. This involvement was accompanied by relatively decreased EF verified by echocardiography. Most ECG findings, including QTD values, had no linear relationship with echocardiographic parameters except for LVEDD and LVESD.