Results 81 to 90 of about 276,376 (316)
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Background Dedicated hypertrophic cardiomyopathy (HCM) center cohorts have reported reductions in HCM‐related deaths, likely due to the introduction of contemporary treatments.
Ahmed Sayed +3 more
doaj +1 more source
The role of melatonin in peripartum cardiomyopathy
Includes abstract.Includes bibliographical references.Peripartum cardiomyopathy (PPCM) is a heart disease of unknown aetiology emerging in previously healthy women towards the end of pregnancy or first postpartum months.
Nicholson, Lauren
core
Among numerous etiologies of ventricular arrhythmias, arrhythmogenic right ventricular cardiomyopathy (ARVC) and methamphetamine-induced cardiomyopathy (MAC) are 2 of the rarer causes of ventricular arrhythmias.1 ARVC is a disease that is characterized ...
Yu, AS, Rowe, M, Martin, P, Dahiya, A
core +1 more source
Diabetic Cardiomyopathy: Five Major Questions with Simple Answers [PDF]
Diabetes is a major risk factor for heart disease. Diabetic cardiomyopathy is a long-lasting process that affects the myocardium in patients who have no other cardiac conditions.
Miguel Alejandro Rodriguez-Ramos
core +1 more source
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Background The clinical benefits of mavacamten in patients with obstructive hypertrophic cardiomyopathy previously treated with advanced therapies are not established.
Daniele Massera +7 more
doaj +1 more source
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C +13 more
core
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala +1 more
openaire +4 more sources

