[HTML][HTML] Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

V Gragnaniello, C Rizzardi, A Commone… - Journal of Clinical …, 2023 - mdpi.com
Classic infantile Pompe disease is characterized by a severe phenotype with
cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly …

[HTML][HTML] Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

S Mansoorshahi, AT Yetman, MM Bissell, YY Kim… - medRxiv, 2024 - ncbi.nlm.nih.gov
Abstract Bicuspid Aortic Valve (BAV) is the most common adult congenital heart lesion with
an estimated population prevalence of 1%. We hypothesize that early onset complications of …

Prevalence, Clinical Manifestations, and Adverse Outcomes of Left Ventricular Noncompaction in Adults: A Systematic Review and Meta-Analysis

J Llerena-Velastegui, A Lopez-Usina… - Cardiology …, 2024 - cardiologyres.org
Background: Left ventricular noncompaction (LVNC) is recognized within the spectrum of
adult cardiomyopathies for its unique pathophysiologic features and clinical challenges. This …

Gendiagnostik bei kardiovaskulären Erkrankungen

E Schulze-Bahr, S Klaassen, B Gerull… - Die Kardiologie, 2023 - Springer
Zusammenfassung Dieses Konsensuspapier beschreibt die Bedeutung, Vorgehensweise
und die gesetzlichen Regelungen der molekulargenetischen Diagnostik bei …

[HTML][HTML] Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM)

Y Hanel, S Dittmann, K Müller, ME Ioannou… - Clinical Research in …, 2024 - Springer
Left-ventricular non-compaction cardiomyopathy (NCCM) is a distinct cardiomyopathy with a
compacted and noncompacted and hypertrabeculated myocardial layer of the LV wall with …

[HTML][HTML] Myosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male

L Latchupatula, M Benayon, M Mansoor, J Luu - Cureus, 2024 - ncbi.nlm.nih.gov
A 37-year-old male with type two diabetes presented to the hospital with new-onset heart
failure and renal dysfunction. His left ventricular (LV) ejection fraction was less than 10 …

Miocardio no compactado:¿ una enfermedad o un rasgo fenotípico?

G Casas, JF Rodríguez-Palomares… - Revista Española de …, 2022 - Elsevier
El miocardio no compactado es una entidad mal definida y en controversia, con una amplia
expresividad fenotípica: desde un simple rasgo anatómico hasta una enfermedad con grave …

[HTML][HTML] Overlapping Phenotypes of Alcoholic Cardiomyopathy and Left Ventricular Non-compaction: A Case Report and Discussion of Converging Cardiomyopathies

V Mendpara, JKR Endreddy, S Gajula, P Ravulapalli… - Cureus, 2023 - ncbi.nlm.nih.gov
Left ventricular non-compaction cardiomyopathy, often known as LVNC, is a form of
congenital cardiomyopathy that is extremely uncommon. It is a condition that may be …

Left ventricular noncompaction cardiomyopathy: A scoping review

OS Ogah, EP Iyawe, KF Okwunze… - Annals of Ibadan …, 2023 - ajol.info
Introduction: There has been an upsurge in the reporting of cases of Left Ventricular
Noncompaction (LVNC) cardiomyopathy in medical literature in the last 35 years due to …

[HTML][HTML] Вариант нуклеотидной последовательности гена TPM1 в семье с различными фенотипами некомпактного миокарда левого желудочка

ММ Кудрявцева, АВ Киселева… - …, 2023 - cardiovascular.elpub.ru
Аннотация Некомпактный миокард левого желудочка (НМЛЖ) относится к редким,
генетически и фенотипически гетерогенным заболеваниям, что часто приводит к …