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ObjectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.MethodsAltogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated.ResultsThree families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weakness together with respiratory insufficiency. Five heterozygous TTN A-band mutations were identified of which two were novel. Also with the novel mutations the muscle pathology and imaging findings were compatible with the previous reports of HMERF.ConclusionsOur collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history.

Background Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. Methods We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and next generation sequencing (NGS). We studied the clinical and histopathological characteristics in 38 index patients and five additional relatives (n = 43) and particularly focused on the associated multisystemic symptoms. Results We identified 14 heterozygous mutations (diagnostic yield of 37%), among them the novel p.Pro209Gln mutation in the BAG3 gene, which was associated with onset in adulthood, a mild phenotype and an axonal sensorimotor polyneuropathy, in the absence of giant axons at the nerve biopsy. We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB . Interestingly, we detected a polyneuropathy in 28% of the MFM patients, including a BAG3 and a MYOT case, and hearing impairment in 13%, including one patient with a FLNC mutation and two with mutations in the DES gene. In four index patients with a mutation in one of the MFM genes, typical histological findings were only identified at the ultrastructural level (29%). Conclusions We conclude that extraskeletal symptoms frequently occur in MFM, particularly cardiac and respiratory involvement, polyneuropathy and/or deafness. BAG3 mutations should be considered even in cases with a mild phenotype or an adult onset. We identified a genetic defect in one of the known genes in less than half of the MFM patients, indicating that more causative genes are still to be found. Next generation sequencing techniques should be helpful in achieving this aim.

Background/Objectives: Adults with congenital heart disease (ACHD) are at increased risk for mental health problems, particularly depression and anxiety. Emerging evidence suggests that psychological rather than purely medical factors may play a decisive role in explaining individual differences in emotional adjustment. However, comprehensive models integrating multiple cognitive and emotional domains remain scarce. This study aimed to identify the psychological variables most strongly associated with depressive and anxiety symptoms in ACHD when considered simultaneously to inform priorities for psychosocial interventions. Methods: A total of 1136 ACHD (aged 18–85 years; 59.7% female) from the National Register for Congenital Heart Defects, Berlin, completed an online survey assessing depression, anxiety, emotion regulation, illness perceptions, and illness identity. Correlational and multiple regression analyses were conducted, controlling for sociodemographic characteristics, CHD severity, and secondary diseases. Significance level for regression models was set at p < 0.025 due to Bonferroni correction. Results: Rumination showed the strongest positive correlations with both depression and anxiety, whereas acceptance was most negatively correlated. In multiple regression analyses, rumination (highest unique variance explanation with semi-partial R2 = 0.068 resp. 0.072) and illness engulfment emerged as the most strongly associated predictors of depressive and anxiety symptoms. Illness-related concerns were not significant predictors. Conclusions: The findings highlight the key role of repetitive negative thinking and an engulfed illness identity in the development of emotional distress among ACHD. Psychotherapeutic interventions targeting rumination, fostering psychological distance from illness identity, and promoting a multifaceted self-concept may be particularly beneficial in this population.

Improved medical treatments have extended survival and life expectancy in adults with congenital heart defects (ACHD), placing greater emphasis on psychosocial health. Up to one-third of ACHD experience anxiety or depression, and half develop a mental illness during their lifetime. While there is solid evidence on the prevalence of mental health, many do not receive psychological, psychotherapeutic, or psychiatric treatment (PST) and the psychological care situation remains understudied. In a nationwide, online cross-sectional survey conducted in Q1 2024, 1486 ACHD aged 18 to 85 (Mage = 36.84 years; 60.8% female) registered in the German National Register for Congenital Heart Defects (NRCHD) completed self-report questionnaires on sociodemographics, illness identity (Illness Identity Questionnaire), mental well-being, and utilisation of PST. CHD diagnoses were determined in conformity with the International Pediatric and Congenital Cardiac Code (IPCCC) and CHD was classified according to Warnes et al. (simple/moderate/complex). Analyses included chi-square tests, t-tests, and binary logistic regression. Overall, 32.8% of participants reported current and/or previous PST (women 37.5%, men 25.3%). PST utilisation was significantly higher in those with complex (40.2%) compared to moderate (29.6%) and simple CHD (25.3%) (ps < 0.01). Primary treatment reasons were mental illness (41.7%) and CHD-related concerns (37.2%). Nearly half of treatments were self-initiated (45.8%) and about one-third were physician-recommended (30.8%). Logistic regression revealed CHD severity as a significant predictor of PST use (ps < 0.05), with lower odds for simple (OR = 0.48) and moderate (OR = 0.66) compared to complex CHD when controlling for sex (p < 0.001, OR = 1.87), age (p = 0.022, OR = 1.011), education level (ps between 0.060 and 0.780), and net income (ps < 0.05). Those receiving PST showed significantly higher maladaptive illness-identity scores (engulfment, rejection) and lower acceptance. Approximately one in three ACHD requires mental health support, particularly those with complex CHD. The CHD itself acts as a key stressor and treatment motivator. Findings underscore the need for integrated care linking cardiological and psychosocial services. Routine screening for psychological distress and low-threshold access to PST—also for patients with simple and moderate CHD—are essential to identify and address mental health needs early.

Background/Objectives: As survival improves in congenital heart defects (CHD), psychosocial support—particularly during crises—has become increasingly important. We examined how concerns of CHD patients and their relatives evolved during the Coronavirus Disease 2019 (COVID-19) pandemic, focusing on the influence of role (patient vs. relative), gender, and CHD complexity. Methods: The German National Register for Congenital Heart Defects (NRCHD) conducted two nationwide online surveys in April 2020 (Survey 1) and April 2021 (Survey 2). Free-text responses were analyzed using Mayring’s summarizing content analysis. Categories were coded per respondent (present/absent) for exploratory comparisons by year, role, sex, and CHD complexity. Analyses were cross-sectional and descriptive (p-values unadjusted). Results: In survey 1, 15.9%, and in survey 2, 19.3% of respondents provided qualitative information. In 2020, dominant themes included general COVID-19 information (37.3%), lack of CHD-specific information (30.4%), worry (24.1%), fear (23.2%), isolation (21.4%), and uncertainty (21.2%). By 2021, concerns shifted toward vaccination (24.1%) and vaccination prioritization (23.4%), while information gaps (21.8%) and fear (21.0%) persisted. Significant year-to-year changes included decreases in general information needs, concern, isolation, and uncertainty, and increases in prioritization (all p < 0.01). Relatives consistently reported higher psychological burden than patients (p ≤ 0.01). Conclusions: Concerns moved from early fear/uncertainty to vaccination and prioritization one year later, with persistent information needs across subgroups. Clear CHD-specific communication, caregiver-inclusive psychosocial support, and crisis-resilient care pathways (including telemedicine) are essential for this vulnerable population.

Approximately 50% of adults with congenital heart defects (ACHD) lack specialised CHD care, increasing the risk of preventable complications and mortality. While there is evidence that psychological factors significantly influence adherence, predictors of attending cardiological routine examinations in ACHD remain understudied. This is the first German study to examine psychological and sociodemographic predictors of adherence in ACHD using the Common-Sense Model of Self-Regulation as a framework. A total of N = 1136 participants from the National Register for Congenital Heart Defects were analysed. Sociodemographic and psychological factors (illness perception, illness identity, emotion regulation and psychological distress) were recorded as predictors of the subjective importance of regular cardiological check-ups and the actual utilisation frequency. The results indicate that of the sociodemographic factors, only age is relevant for the subjective importance, while net income influences the actual utilisation of cardiological examinations. In contrast, several psychological aspects of illness perception, such as perceived treatment benefit, and illness identity play a role for both adherence measures, as do depressive symptoms for the frequency of examinations. Our results highlight the importance of addressing psychological factors and providing clear information about the benefits of cardiological care to improve adherence in ACHD and thereby reduce secondary diseases.

Background/Objectives: The COVID-19 pandemic impacted healthcare access globally, with chronic conditions like congenital heart defects (CHD) posing unique challenges. While general trends have been studied, little is known about the impact on CHD patients in Europe. This study assessed the living conditions, healthcare utilization, and psychosocial well-being of CHD patients and their families in Germany, considering CHD severity, gender differences, and changes over time. Methods: Data were derived from two cross-sectional online surveys conducted by the National Register for Congenital Heart Defects (NRCHD) in April 2020 and April 2021. Surveys targeted CHD patients and relatives, assessing healthcare access, risk perception, COVID-19-related knowledge, and psychosocial effects. Statistical analyses compared responses by gender, CHD severity, and survey period. Results: A total of 6737 responses were analyzed. Healthcare utilization declined early in the pandemic due to infection fears but partially recovered in 2021. Perceived health risks increased from 27.9% in 2020 to 38.7% in 2021 (p < 0.001), along with higher psychosocial distress. COVID-19-related knowledge was greater in 2020, but trust in government information declined, while reliance on healthcare providers increased. Gender and CHD severity influenced healthcare engagement and perceptions. Conclusions: This study highlights the challenges CHD patients faced, underscoring the need for holistic, patient-centered care. Future interventions should focus on tailored communication and support strategies, particularly for vulnerable populations, to mitigate the impact of future health crises.