Der Verschluss von Vorhofseptumdefekten im Kindesalter mittels Herzkathetertechnik

Kampmann, C.; Kuroczynski, W.; Wippermann, C.-F.; Wenzel, A; Wiethoff, Christiane; Habermehl, Pirmin; Huth, R.; Knuf, Markus; Heinemann, M.

doi:10.1055/s-2002-30152

Cited by 3 publications

(6 citation statements)

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“…Keiichi Hirono 1 , MD, PhD, Yukiko Hata 2 , PhD, Shojiro Ichimata 2 , MD, PhD, Naoki Nishida 2 , MD, PhD, Teruhiko Imamura 3 , MD, PhD, Yoshihiro Asano 4 , MD, PhD, Yuki Kuramoto 5 , MD, PhD, Kaori Tsuboi 1 , MD, Shinya Takarada 1 , MD, PhD, Mako Okabe 1 , MD, MD, Hideyuki Nakaoka 1 , MD, PhD, Keijiro Ibuki 1 , MD, PhD, Sayaka Ozawa 1 , MD, PhD, Jun Muneuchi 6 , MD, PhD, Kazushi Yasuda 7 , MD, PhD, Kotaro Urayama 8 , MD, Hideharu Oka 9 , MD, PhD, Tomoyuki Miyamoto 10 , MD, PhD, Kenji Baba 11 , MD, PhD, Akio Kato 12 , MD, Hirofumi Saiki 13 , MD, PhD, Naoki Kuwahara 14 , MD, PhD, Masako Harada 15 , MD, PhD, Shiro Baba 16 , MD, PhD, Mari Morikawa 17 , MD, PhD, Hidenori Iwasaki 18 , MD, PhD, Yuichiro Hirata 19 , MD, Yuki Ito 20 , MD, Heima Sakaguchi 20 , MD, PhD, Susumu Urata 21 , MD, PhD, Koichi Toda 22 , MD, PhD, Emi Kittaka 23 , MD, Seigo Okagda 24 , MD, PhD, Yohei Hasebe 25 , MD, PhD, Shinsuke Hoshino 26 , MD, PhD, Takanari Fujii 27 , MD, PhD, Norie Mitsushita 28 , MD, Masaki Nii 28 , MD, PhD, Kayo Ogino 29 , MD, PhD, Mitsuhiro Fujino 30 , MD, PhD, Yoko Yoshida 31 , MD, PhD, Yutaka Fukuda 32 , MD, PhD, Satoru Iwashima 33 , MD, PhD, Kiyohiro Takigiku 34 , MD, PhD, Yasushi Sakata 35 , MD, PhD, Ryo Inuzuka 36 , MD, PhD, Jun Maeda 37 , MD,…”

Section: Sarcomere Gene Variants Did Not Improve Cardiac Function In ...mentioning

confidence: 99%

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Hirono,

Hata,

Ichimata

et al. 2024

Preprint

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Background: Dilated cardiomyopathy (DCM) is a progressive myocardial disorder characterized by impaired cardiac contraction and ventricular dilation. Some patients with DCM could manifest improvement in these abnormalities called left ventricular reverse remodeling (LVRR). However, the detailed association between genotypes and clinical outcomes, including LVRR, particularly among pediatric patients, remains uncertain. Methods: We prospectively enrolled pediatric patients with DCM from Japanese multi-institutional centers between 2014 and 2023. We identified DCM-related genes and explored the association between gene variants and clinical outcomes, including LVRR, which was defined as any increase in left ventricular ejection fraction during the observation period. Results: A total of 123 pediatric patients (62 males; mean age of 8 months [range, 1?51 months]) were retrospectively enrolled. There were 50 pathogenic variants in 45 patients (35.0%). The most identified gene was MYH7 (14.0%), followed by RYR2 (12.0%), and TPM1 (8.0%). A novel variant in the CASZ1 gene (NM_001079843.2 c.3356G>A, p. Trp1119Ter) was identified. LVRR was achieved in 47.5% of patients. In patients with sarcomere gene variants, the left ventricular ejection fraction remained unchanged (31.4% to 39.8%, P = 0.1913), whereas it significantly increased in patients with non-sarcomere gene variants (33.4% to 47.8%, P = 0.0466) and in patients without gene variants (33.6% to 54.1%, P = 0.003). Conclusions: Pediatric patients with DCM exhibited a marked genetic heterogeneity with a different landscape from adults with DCM. LVRR was not uniform across functional gene groups, opening the door to tailor-made gene-guided prediction in pediatric patients with DCM.

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Section: Sarcomere Gene Variants Did Not Improve Cardiac Function In ...mentioning

confidence: 99%

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Hirono,

Hata,

Ichimata

et al. 2024

Preprint

View full text Add to dashboard Cite

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“…More limited LVH can be diagnostic in family members of HCM patients or with a positive genetic test [57]. Children, as in adults, the diagnosis of HCM requires an LV wall thickness more than two standard deviations greater than the predicted mean (z-score: defined as the number of standard deviations from the population mean) [63]. In first-degree relatives of HCM patients with unequivocal disease (LVH ≥15 mm) the diagnosis is based on the presence of otherwise unexplained increased LV wall thickness ≥ 13 mm in one or more LV myocardial segments, as measured using any cardiac imaging technique [echocardiography, cardiac magnetic resonance (CMR) or CT].…”

Section: Diagnostic Criteriamentioning

confidence: 99%

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Diagnosis, Clinical Course and Therapy

Lazzeroni¹,

Centorbi²

2021

Cardiomyopathy - Disease of the Heart Muscle

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Hypertrophic cardiomyopathy (HCM) is a genetic disorder of cardiac myocytes that is characterized by cardiac hypertrophy, unexplained by the loading conditions, a non-dilated left ventricle and a normal or increased left ventricular ejection fraction (LV-EF). Prevalence of HCM has been estimated at 0.16% to 0.29% (≈ 1:625–1:344 individuals) in the general adult population. HCM represents the most common genetic heart disease and represent an archetypical single gene disorder with an autosomal dominant pattern of inheritance and historically termed a “disease of the sarcomere”. The precise mechanisms by which sarcomere variants result in the clinical phenotype have not been fully understood. Mutant sarcomere genes trigger several myocardial changes, leading to hypertrophy and fibrosis, which ultimately result in a small, stiff ventricle with impaired systolic and diastolic performance despite a preserved LV-EF. The most common differential diagnosis challenges in the presence of hypertrophic heart disease are represented by: athlete’s heart, hypertensive heart and other cardiomyopathies mimicking HCM. A multimodality approach using ECG, echocardiography, CMR, cardiac computed tomography (CCT) and cardiac nuclear imaging provides unique information about diagnosis, staging and clinical profiles, anatomical and functional assessment, metabolic evaluation, monitoring of treatment, follow-up, prognosis and risk stratification, as well as preclinical screening and differential diagnosis. HCM may be associated with a normal life expectancy and a very stable clinical course. However, about a third of patients develop heart failure (HF); in addition, 5–15% of cases show progression to either the restrictive or the dilated hypokinetic evolution of HCM, both of which may require evaluation for cardiac transplantation. The clinical course of HCM has been classified into four clinical stages: non-hypertrophic, classic, adverse remodeling and overt dysfunction phenotype. No evidence-based treatments are available for non-hypertrophic HCM patients (pre-hypertrophic stage), on the other hand in classic HCM, adverse remodeling and overt dysfunction phenotype, pharmacological or interventional strategies have the target to improve functional capacity, reduce symptoms, prevent disease progression. Therapeutic approach mainly differs on the basis of the presence or absence of significant obstructive HCM. Adult patients with HCM report an annual incidence for cardiovascular death of 1–2%, with sudden cardiac death (SCD), HF and thromboembolism being the main causes of death; the most commonly recorded fatal arrhythmic event is spontaneous ventricular fibrillation. For this reason, SCD risk estimation is an integral part of clinical management of HCM. International guidelines suggest the evaluation of several risk factor for SCD based on personal and family history, non-invasive testing including echocardiography, ambulatory electrocardiographic 24 hours monitoring and CMR imaging in order to identity those patients most likely to benefit implantable cardioverter-defibrillator (ICD) implantation. The present chapter summarize genetics, pathogenesis, diagnosis, clinical course and therapy of HCM as well as novel therapeutic options.

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“…Размерные стандартные эхометрические пока-затели оценивались с помощью центильных таблиц и оценки Z-score по C. Kampmann et al [11], оценка диаметра коронарных артерий проводилась с исполь-зованием Z-score в соответствии с рекомендациями F. Dallaire et al [5].…”

Section: материалы и методыunclassified

“…Simpson) в В-режиме в 2-камерной проекции [12]. Оценка традиционным методом L. Teicholz с использо-ванием данных, полученных в проекции по длинной оси левого желудочка в М-режиме, также проводилась у наших пациентов, хотя при наличии гипокинезии в базальных сегментах её достоверность ниже [7,9,11].…”

Section: материалы и методыunclassified

“…Simpson близки (68 % и 66 % соответственно), сохраняется гипертрабекулярность миокарда, но толщина миокарда левого желудочка в диастолу равна 0,65 см (75-90-й центиль для росто-весовых показателей девочки). Оценка толщины некомпактного миокарда по Z-score [11] составила 14,72. Соотношение пиков Е/А на трансмитральном потоке -0,9/0,6 м/с (признаков диастолической дис-функции не определяется).…”

Section: наблюдениеunclassified

See 1 more Smart Citation

Ultrasound Diagnosis of Noncompaction of the Left Ventricular Myocardium

Barakin¹,

Barakin

Bregel³

et al. 2017

Acta Biomedica Scientifica

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Der Verschluss von Vorhofseptumdefekten im Kindesalter mittels Herzkathetertechnik

Cited by 3 publications

References 0 publications

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Diagnosis, Clinical Course and Therapy

Ultrasound Diagnosis of Noncompaction of the Left Ventricular Myocardium

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