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Article ; Online: Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.

Östman-Smith, Ingegerd

Circulation. Genomic and precision medicine

2023 Volume 16, Issue 4, Page(s) 359–362

MeSH term(s)	Humans ; LEOPARD Syndrome/complications ; LEOPARD Syndrome/diagnosis ; LEOPARD Syndrome/genetics ; Noonan Syndrome/complications ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Mutation ; Cardiomyopathy, Hypertrophic/complications ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/genetics ; Phenotype ; Genotype ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
Chemical Substances	PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48)
Language	English
Publishing date	2023-06-16
Publishing country	United States
Document type	Editorial ; Research Support, Non-U.S. Gov't ; Comment
ISSN	2574-8300
ISSN (online)	2574-8300
DOI	10.1161/CIRCGEN.123.004206
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Article ; Online: What Aspects of Phenotype Determine Risk for Sudden Cardiac Death in Pediatric Hypertrophic Cardiomyopathy?

Östman-Smith, Ingegerd

Journal of cardiovascular development and disease

2022 Volume 9, Issue 5

Abstract: Sudden cardiac death due to hypertrophic cardiomyopathy (HCM), is the most common autopsy-proven cause of unexpected medical death in children after infancy. This mode of death is preventable by implantation of an internal cardiac defibrillator (ICD), a ... ...

Abstract	Sudden cardiac death due to hypertrophic cardiomyopathy (HCM), is the most common autopsy-proven cause of unexpected medical death in children after infancy. This mode of death is preventable by implantation of an internal cardiac defibrillator (ICD), a procedure that has considerable morbidity in childhood patients, and even mortality. Since HCM is an inheritable disease (usually autosomal dominant, occasionally recessive), family screening may identify subjects at risk. This review summarizes published studies carried out to identify which phenotypic markers are important risk factors in childhood patients with HCM and reviews the performance of existing risk-stratification algorithms (HCM Risk-Kids, PRIMaCY) against those of single phenotypic markers. A significant proportion of HCM-patients diagnosed in childhood are associated with RASopathies such as Noonan syndrome, but a knowledge gap exists over risk stratification in this patient group. In conclusion, pediatric risk-stratification algorithms for sudden cardiac death perform better in children than adult HCM risk-stratification strategies. However, current multivariable algorithms overestimate risk substantially without having high sensitivity, and remain 'a work in progress'. To include additional phenotypic parameters that can be reproducibly measured such as ECG-markers, e.g., ECG risk score (which has high sensitivity and negative predictive value), tissue Doppler diastolic function measurements, and quantification of myocardial scarring on cardiac magnetic resonance imaging, has the potential to improve risk-stratification algorithms. Until that work has been achieved, these are three factors that the clinician can combine with the current algorithm-calculated per cent risk, in order better to assess risk.
Language	English
Publishing date	2022-04-21
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2777082-5
ISSN	2308-3425 ; 2308-3425
ISSN (online)	2308-3425
ISSN	2308-3425
DOI	10.3390/jcdd9050124
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Article ; Online: Conflicting results on the role of ECG in risk-stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.

Östman-Smith, Ingegerd / Fernlund, Eva

European journal of preventive cardiology

2023

Language	English
Publishing date	2023-01-18
Publishing country	England
Document type	Journal Article
ZDB-ID	2626011-6
ISSN	2047-4881 ; 2047-4873
ISSN (online)	2047-4881
ISSN	2047-4873
DOI	10.1093/eurjpc/zwad010
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Zs.A 4686: Show issues

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Article ; Online: Factors associated with excess female mortality in obstructive hypertrophic cardiomyopathy.

Javidgonbadi, Davood / Schaufelberger, Maria / Östman-Smith, Ingegerd

European journal of preventive cardiology

2022 Volume 29, Issue 11, Page(s) 1545–1556

Abstract: Background: Several studies have reported excess female mortality in patients with hypertrophic cardiomyopathy, but the cause is unknown.: Aims: To compare risk-factors for disease-related death in both sexes in a geographical cohort of patients with ...

Abstract	Background: Several studies have reported excess female mortality in patients with hypertrophic cardiomyopathy, but the cause is unknown. Aims: To compare risk-factors for disease-related death in both sexes in a geographical cohort of patients with obstructive hypertrophic cardiomyopathy (oHCM). Methods and results: Data-bases in all ten hospitals within West Götaland Region yielded 250 oHCM-patients (123 females, 127 males). Mean follow-up was 18.1 y. Risk-factors for disease-related death were evaluated by Cox-hazard regression and Kaplan-Meier survival-curves, with sex-comparisons of distribution of risk-factors and therapy in total and age-matched (n = 166) groups. At diagnosis females were older, median 62 y vs. 51 y, (P < 0.001), but not different in outflow-gradients and median NYHA-class. However, septal hypertrophy was more advanced: 10.6 [IQR = 3.2] vs. 9.6 [2.5] mm/m2 BSA; P = 0.002. Females had higher disease-related mortality than males (P = <0.001), with annual mortality 2.9% vs. 1.5% in age-matched groups (P = 0.010 log-rank). For each risk-category identified (NYHA-class ≥ III, outflow-gradient ≥50 mmHg), a higher proportion of females died (P = 0.0004; P = 0.001). Calcium-blocker therapy was a risk-factor (P = 0.005) and was used more frequently in females (P = 0.034). A beta-blocker dose above cohort-median reduced risk for disease-related death in both males (HR = 0.32; P = 0.0040) and in females (HR = 0.49; P = 0.020). Excess female deaths occurred in chronic heart-failure (P = 0.001) and acute myocardial infarctions (P = 0.015). Fewer females received beta-blocker therapy after diagnosis (64% vs. 78%, P = 0.018), in a smaller dose (P = 0.007), and less frequently combined with disopyramide (7% vs. 16%, P = 0.048). Conclusion: Addressing sex-disparities in the timing of diagnosis and pharmacological therapy has the potential to improve the care of females with oHCM.
MeSH term(s)	Male ; Humans ; Female ; Treatment Outcome ; Kaplan-Meier Estimate ; Echocardiography ; Risk Factors ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/drug therapy ; Cardiomyopathy, Hypertrophic/complications
Language	English
Publishing date	2022-05-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2626011-6
ISSN	2047-4881 ; 2047-4873
ISSN (online)	2047-4881
ISSN	2047-4873
DOI	10.1093/eurjpc/zwac078
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Article ; Online: Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.

Österberg, Anna Wålinder / Östman-Smith, Ingegerd / Green, Henrik / Gunnarsson, Cecilia / Fredrikson, Mats / Liuba, Petru / Fernlund, Eva

Journal of cardiovascular development and disease

2024 Volume 11, Issue 4

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2024-03-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2777082-5
ISSN	2308-3425 ; 2308-3425
ISSN (online)	2308-3425
ISSN	2308-3425
DOI	10.3390/jcdd11040105
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Article ; Online: Concerns About the HCM Risk-Kids Study.

Östman-Smith, Ingegerd / Javidgonbadi, Davood / Fernlund, Eva

JAMA cardiology

2020 Volume 5, Issue 3, Page(s) 362

MeSH term(s)	Cardiomyopathy, Hypertrophic ; Child ; Death, Sudden, Cardiac ; Humans
Language	English
Publishing date	2020-01-29
Publishing country	United States
Document type	Letter ; Comment
ISSN	2380-6591
ISSN (online)	2380-6591
DOI	10.1001/jamacardio.2019.5783
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Article ; Online: Screening for Critical Congenital Heart Defects in Sweden.

Lannering, Katarina / Kazamia, Kalliopi / Bergman, Gunnar / Östman-Smith, Ingegerd / Liuba, Petru / Dahlqvist, Jenny Alenius / Elfvin, Anders / Mellander, Mats

Pediatrics

2023 Volume 152, Issue 4

Abstract: Objectives: Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early ... ...

Abstract	Objectives: Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early detection (before discharge) of CCHD in the context of increasing prenatal detection, and POS being a national standard since 2013. Methods: Retrospective, nationwide population-based study. All full-term live-born infants with CCHD in Sweden between 2014 and 2019 were included. CCHD was defined as a congenital heart defect requiring surgery or catheter-based intervention or resulting in death within 28 days of birth. Results: Of 630 infants, 89% were diagnosed before discharge or death, 42% prenatally, 11% from early symptoms, 23% by POS, and 14% from NPE after a negative POS. Four (0.6%) died undiagnosed before discharge and 64/630 (10%) were discharged undiagnosed, with 24/64 being readmitted with circulatory failure and causing 1 preoperative death. Coarctation was the most prevalent CCHD (N = 184), 25% of whom were detected prenatally (12% by POS and 29% by NPE). Two died undiagnosed before discharge and 30% were discharged undiagnosed. Transposition was the second most common defect (N = 150) and 43% were detected prenatally (33% by POS, 1 by NPE) and 2 died undiagnosed before POS. None was discharged undiagnosed. Conclusions: POS and NPE remain important for the early detection of CCHD complementing prenatal ultrasound screening. Nevertheless, 1 in 10 with CCHD leaves the hospital without a diagnosis, with coarctation being the predominant lesion. Future research on CCHD screening should have a particular focus on this cardiac defect.
Language	English
Publishing date	2023-09-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2023-061949
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Article ; Online: Beta-Blockers in Pediatric Hypertrophic Cardiomyopathies.

Östman-Smith, Ingegerd

Reviews on recent clinical trials

2014 Volume 9, Issue 2, Page(s) 82–85

Abstract: Unlabelled: Congestive cardiac failure accounts for 36% of childhood deaths in hypertrophic cardiomyopathy, and in infants with heart failure symptoms before two years of age, the mortality is extremely high unless treatment with beta-receptor ... ...

Abstract	Unlabelled: Congestive cardiac failure accounts for 36% of childhood deaths in hypertrophic cardiomyopathy, and in infants with heart failure symptoms before two years of age, the mortality is extremely high unless treatment with beta-receptor antagonists is instituted. The mechanism of heart failure is not systolic dysfunction, but rather extreme diastolic dysfunction leading to high filling pressures. Risk factors for development of heart failure are a generalized pattern of hypertrophy with a left ventricular posterior wall-to- cavity ratio >0.30, the presence of left ventricular outflow tract obstruction at rest, and the co-existence of syndromes in the Noonan/Leopard/Costello spectrum. The 5-year survival of high-risk patients is improved from 54% to 93% by high-dose beta-blocker therapy (>4.5 mg/kg/day propranolol). The mechanism of the beneficial effect of beta-blockers is to improve diastolic function by lengthening of diastole, reducing outflow-obstruction, and inducing a beneficial remodelling resulting in a larger left ventricular cavity, and improved stroke volume. Hypertrophic cardiomyopathy is associated with increased activity of cardiac sympathetic nerves, and infants in heart failure with hypertrophic cardiomyopathy show signs of extreme sympathetic over-activity, and require exceptionally high doses of beta-blockers to achieve effective beta-blockade as judged by 24 h Holter recordings, often 8-24 mg/kg/day of propranolol or equivalent. Conclusion: Beta-blocker therapy is without doubt the treatment of choice for patients with heart failure caused by hypertrophic cardiomyopathy, but the dose needs to carefully titrated on an individual basis for maximum benefit, and the dose required is surprisingly large in infants with heart failure due to hypertrophic cardiomyopathy.
MeSH term(s)	Adrenergic beta-Antagonists/therapeutic use ; Cardiomyopathy, Hypertrophic/complications ; Child ; Heart Failure/drug therapy ; Heart Failure/etiology ; Humans
Chemical Substances	Adrenergic beta-Antagonists
Language	English
Publishing date	2014-09-08
Publishing country	United Arab Emirates
Document type	Journal Article
ZDB-ID	2251879-4
ISSN	1876-1038 ; 1574-8871
ISSN (online)	1876-1038
ISSN	1574-8871
DOI	10.2174/1574887109666140908125158
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Article ; Online: Differential diagnosis between left ventricular hypertrophy and cardiomyopathy in childhood.

Östman-Smith, Ingegerd

Journal of electrocardiology

2014 Volume 47, Issue 5, Page(s) 661–668

Abstract: The sensitivity and specificity of the electrocardiogram for the diagnosis of left ventricular hypertrophy of different etiologies are described. The sensitivity of the electrocardiogram for detecting left ventricular pressure overload is substantially ... ...

Abstract	The sensitivity and specificity of the electrocardiogram for the diagnosis of left ventricular hypertrophy of different etiologies are described. The sensitivity of the electrocardiogram for detecting left ventricular pressure overload is substantially lower (<35%) than the sensitivity for detecting evidence of a cardiomyopathy (55% to around 87%). Attention is drawn to the finding that in many differing etiologies of left ventricular hypertrophy ST-T-wave changes commonly referred to as "strain"-pattern are a harbinger of an increased risk of malignant cardiac arrhythmias and sudden death. In the most common pediatric cause of sudden death, hypertrophic cardiomyopathy, a described ECG risk score, which scores both voltage and repolarization abnormalities, is the most powerful predictor hitherto described for predicting the risk of sudden death in this diagnosis. A point score over 5 points gives a relative risk for sudden death of 24.3 with a sensitivity of 96% and a specificity of 78% in childhood.
MeSH term(s)	Cardiomyopathies/diagnosis ; Cardiomyopathies/physiopathology ; Child ; Death, Sudden, Cardiac ; Diagnosis, Differential ; Electrocardiography ; Humans ; Hypertrophy, Left Ventricular/diagnosis ; Hypertrophy, Left Ventricular/physiopathology ; Sensitivity and Specificity
Language	English
Publishing date	2014-09
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	410286-1
ISSN	1532-8430 ; 0022-0736
ISSN (online)	1532-8430
ISSN	0022-0736
DOI	10.1016/j.jelectrocard.2014.07.002
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Article ; Online: Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy: A position statement from the AEPC Working Group on Basic Science, Genetics and Myocardial Disease and the AEPC Working Group on Cardiac Dysrhythmias and Electrophysiology - ERRATUM.

Kaski, Juan Pablo / Kammeraad, Janneke A E / Blom, Nico A / Happonen, Juha-Matti / Janousek, Jan / Klaassen, Sabine / Limongelli, Giuseppe / Östman-Smith, Ingegerd / Sarquella Brugada, Georgia / Ziolkowska, Lidia

Cardiology in the young

2024 Volume 34, Issue 2, Page(s) 469

MeSH term(s)	Humans ; Defibrillators, Implantable ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/therapy ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/therapy ; Cardiac Conduction System Disease ; Cardiomyopathies/genetics ; Cardiomyopathies/therapy ; Electrophysiology ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control
Language	English
Publishing date	2024-01-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1078466-4
ISSN	1467-1107 ; 1047-9511
ISSN (online)	1467-1107
ISSN	1047-9511
DOI	10.1017/S1047951123004237
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