ESC-Leitlinie 2020 zur Behandlung von Erwachsenen mit angeborenem Herzfehler (ACHD)

Ruperti-Repilado, Francisco Javier; Thomet, Corina; Schwerzmann, Markus

doi:10.1007/s00059-020-05003-0

Cited by 8 publications

(4 citation statements)

References 23 publications

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“…Further studies are needed to investigate the role of RAI1 in these processes. The only presence of RAI1 variants seems to be insufficient and the coexistence of other genetic anomalies or specific Repilado et al, 2021). In conclusion, this case expands the phenotypic spectrum associated with RAI1 variants in SMS to include congenital heart diseases, that have never been described before.…”

Section: Discussionmentioning

confidence: 53%

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

Onesimo

Delogu

Blandino

et al. 2022

American J of Med Genetics Pt A

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Smith Magenis syndrome (SMS) is a rare neurobehavioral disorder caused by 17p11.2 microdeletion encompassing Retinoic Acid‐Induced 1 (RAI1) gene (90% of cases) or by RAI1 point mutation (10% of cases). The neuropsychological phenotype of individuals with 17p11.2 deletion and in those with RAI1 variants mostly overlaps. However, cardiac defects have been described only in patients with a deletion so far. Here, we present the first case of a patient affected by SMS caused by RAI1 variant in whom a severe congenital pulmonary valve stenosis was diagnosed at birth, requiring trans catheter dilatation in the first month of life. This case expands the phenotypic spectrum associated with RAI1 variants in SMS, describing a previously unreported association with a congenital heart disease.

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Section: Discussionmentioning

confidence: 53%

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

Onesimo

Delogu

Blandino

et al. 2022

American J of Med Genetics Pt A

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“…10) These patients are at a high risk of ventricular arrhythmia and SCD; therefore, timely surgical intervention is particularly important. [11] Both the 2018AHA/ACC and 2020ESC guidelines for congenital heart disease indicate that once ALCAPA is diagnosed, with or without symptoms, surgery should be performed as [7] soon as possible to restore double coronary artery circulation (Class I), [12,13] . The main surgical procedures include coronary artery transplantation and reconstruction, Takeuchi procedure, and ligation of the malformed LCA combined with great saphenous vein or internal mammary artery bypass etc.…”

Section: Discussionmentioning

confidence: 99%

Acute myocardial infarction in the elderly with anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA): A case report and literature review

Niu

Zhang

et al. 2022

Medicine

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Introduction: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery malformation, with a fatality rate of 90% at 1 year of age; only 10% to 15% of patients are diagnosed in adulthood. However, elderly survivors are particularly rare. Here, we report a case of elderly ALCAPA presented with acute myocardial infarction. Case presentation: A 64-years-old female, complained of acute precordial pain in our hospital for 2 days. She was diagnosed with an acute non-ST-segment elevation myocardial infarction. Aortic angiography revealed emptiness of the left coronary sinus, and coronary angiography showed that the tortuous right coronary artery supplied blood to the left coronary artery through collateral circulation, and the contrast medium spilled from the opening of the left coronary artery. It was suspected that the left coronary artery was opened in the pulmonary artery. This finding was subsequently confirmed by coronary artery CT. The patient refused surgery to restore double coronary circulation and was administered standardized drug treatment. There was no chest pain during the 6-month follow-up. Conclusion: ALCAPA should be considered in patients with Myocardial Infarction with Non-obstructive Coronary Arteries, and surgical intervention is the first choice for such patients; However, chronic myocardial damage persists regardless of surgical treatment, prophylactic implantation of an ICD may be an important means of preventing sudden cardiac death and such patients should be followed up for a lifetime.

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“…Pulmonary arterial hypertension (PAH) was noted in the presence of Eisenmenger syndrome or when precapillary pulmonary hypertension was invasively confirmed according to European Society of Cardiology (ESC) guidelines. 18 Systemic ventricular systolic function was assessed by transthoracic echocardiography following consensus recommendations. 19 Systemic left ventricular ejection fraction was assessed quantitatively by the biplane Simpson method, systemic right ventricle by fractional area change, tricuspid annular plane systolic excursion, tissue Doppler velocity of the basal free wall (S′), and qualitatively by visual assessment from multiple views.…”

Section: Methodsmentioning

confidence: 99%

Health‐Related Quality of Life and Its Association With Outcomes in Adults With Congenital Heart Disease and Heart Failure: Insight From FRESH‐ACHD Registry

Karsenty

Amedro

et al. 2023

JAHA

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Background Quality of Life (QoL) is a prognostic factor in heart failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of QoL on outcomes in adults with congenital heart disease (ACHD) and HF. Methods and Results Quality of life of 196 adults with congenital heart disease with clinical heart failure (HF) (mean age: 44.3±13.8 years; 51% male; 56% with complex congenital heart disease; 47% New York Heart Association class III/IV) included in the prospective multicentric registry FRESH‐ACHD (French Survey on Heart Failure−Adult with Congenital Heart Disease) was assessed using the 36‐Item Short Form Survey (SF‐36), a patient‐reported survey. The primary end point was defined by all‐cause death, HF‐related hospitalization, heart transplantation, and mechanical circulatory support. At 12 months, 28 (14%) patients reached the combined end point. Patients with low quality of life experienced major adverse events more frequently (logrank P =0.013). On univariate analysis, lower score at physical functioning (hazard ratio [HR], 0.98 [95% CI, 0.97–0.99]; P =0.008), role limitations related to physical health (HR, 0.98 [95% CI, 0.97–0.99]; P =0.008), and general health dimensions of the SF‐36 (HR, 0.97 [95% CI, 0.95–0.99]; P =0.002) were significantly predictive of cardiovascular events. However, after multivariable analysis, SF‐36 dimensions were no longer significantly associated with the primary end point. Conclusions Patients with congenital heart disease with HF and poor quality of life experience severe events more frequently, making quality of life assessment and rehabilitation programs essential to alter their trajectory.

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ESC-Leitlinie 2020 zur Behandlung von Erwachsenen mit angeborenem Herzfehler (ACHD)

Cited by 8 publications

References 23 publications

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

Acute myocardial infarction in the elderly with anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA): A case report and literature review

Health‐Related Quality of Life and Its Association With Outcomes in Adults With Congenital Heart Disease and Heart Failure: Insight From FRESH‐ACHD Registry

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