Hypertrophic cardiomyopathy with a complex clinical course leading to heart transplantation

Savariya, Uttam; Aponte, Maria M. Patarroyo; Nathan, Sriram; Zhao, Bihong; Radovancevic, Rajko; Armas, Ismael A. Salas de; Kar, Biswajit; Gregorič, Igor D.; Buja, L. Maximilian

doi:10.1016/j.carpath.2021.107406

Cited by 2 publications

(2 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The clinical presentations of HCM are strikingly variable [ 1 , 3 , 6 , 115 , 116 ], which sometimes makes HCM diagnosis challenging [ 1 ]. Some patients are completely asymptomatic [ 1 , 2 , 3 , 80 , 116 ] and can be identified incidentally [ 1 ], while others manifest LV outflow tract obstruction (LVOTO) [ 18 , 79 , 90 , 93 , 115 , 116 ], atrial fibrillation (AF) [ 1 , 9 , 79 , 115 ], SCD [ 1 , 2 , 6 , 79 , 116 , 117 ], or HF [ 1 , 3 , 5 , 6 , 79 , 118 ]. Most HCM cases remain asymptomatic or mildly symptomatic throughout their life [ 73 ], whereas others experience chest pain, fatigue, (exertional) dyspnea, palpitations, presyncope, and syncope [ 1 , 8 , 20 , 44 , 73 , 88 , 119 , 120 , 121 ], with dyspnea being the most common and syncope the least common [ 119 ].…”

Section: Outcomes Of Hcmmentioning

confidence: 99%

“…HCM is a heterogeneous disease regarding both genetic mutations and the clinical course [ 3 , 10 , 74 , 118 , 133 ]. A high variety of involved mutations, the relative rareness of each of the individual mutations (private mutations are very common in families) [ 10 , 70 ], as well as incomplete penetrance [ 13 , 69 , 74 , 134 ] hamper the establishment of universal genotype–phenotype correlations.…”

Section: Interconnections Of Genetic Basis and Outcomes In Hcmmentioning

confidence: 99%

See 1 more Smart Citation

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers

2023

View full text Add to dashboard Cite

Hypertrophic cardiomyopathy (HCM) is the most prevalent heritable cardiomyopathy. HCM is considered to be caused by mutations in cardiac sarcomeric protein genes. Recent research suggests that the genetic foundation of HCM is much more complex than originally postulated. The clinical presentations of HCM are very variable. Some mutation carriers remain asymptomatic, while others develop severe HCM, terminal heart failure, or sudden cardiac death. Heterogeneity regarding both genetic mutations and the clinical course of HCM hinders the establishment of universal genotype–phenotype correlations. However, some trends have been identified. The presence of a mutation in some genes encoding sarcomeric proteins is associated with earlier HCM onset, more severe left ventricular hypertrophy, and worse clinical outcomes. There is a diversity in the mechanisms implicated in the pathogenesis of HCM. They may be classified into groups, but they are interrelated. The lack of known supplementary elements that control the progression of HCM indicates that molecular mechanisms that exist between genotype and clinical presentations may be crucial. Secondary molecular changes in pathways implicated in HCM pathogenesis, post-translational protein modifications, and epigenetic factors affect HCM phenotypes. Cardiac loading conditions, exercise, hypertension, diet, alcohol consumption, microbial infection, obstructive sleep apnea, obesity, and environmental factors are non-molecular aspects that change the HCM phenotype. Many mechanisms are implicated in the course of HCM. They are mostly interconnected and contribute to some extent to final outcomes.

show abstract