Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

DeWitt, Elizabeth S.; Chandler, Stephanie F.; Hylind, Robyn J.; Ladouceur, Virginie Beauséjour; Blume, Elizabeth D.; VanderPluym, Christina; Powell, A.; Fynn‐Thompson, Francis; Roberts, Amy; Sanders, Stephen P.; Bezzerides, Vassilios J.; Lakdawala, Neal K.; MacRae, Calum A.; Abrams, Dominic J.

doi:10.1016/j.jacc.2019.05.022

Cited by 73 publications

(85 citation statements)

References 32 publications

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“…Non-compaction cardiomyopathy (NCCM) stays in the middle with an incidence varying from 0,12 to 0,81/100.000 according to age; although, several more cases were diagnosed in recent years suggesting a higher incidence (14). The same applies for arrhythmogenic cardiomyopathy (AC), that has been historically described as a condition affecting young-adults, but recently an increasing number of children diagnosed with this condition have been described (15).…”

Section: Pediatric Cardiomyopathiesmentioning

confidence: 98%

“…The most recent cohort of pediatric AC patients published is the one by De Witt et al (15) which included 32 cases with predominant right ventricular (n = 16), left dominant (n = 7) or biventricular (n = 9) AC. Cardiac arrest and sustained VT tended to occur more frequently in probands with the predominant right form of the disease, in which PKP2 variants were more often identified (15).…”

Section: Arrhythmogenic Cardiomyopathymentioning

confidence: 99%

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Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators

2020

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In the present paper, we will discuss the main cardiomyopathies affecting children with a specific focus on risk stratification and prevention of sudden cardiac death (SCD). We will discuss the main clinical features of hypertrophic cardiomyopathy (HCM), dilated and restrictive cardiomyopathies, left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (AC), always highlighting their peculiarities in the pediatric age. Since sudden cardiac death may be the first manifestation of the disease, even in children, the identification of the specific underlying condition and of risk factors are pivotal to carry out the appropriate preventing strategies. ICD recommendations in children are similar to adults, but supporting evidences are not so solid, being based on registries or single center studies. Furthermore, children and young patients are most likely to manifest long term complications related to an implanted ICD, and this should be taken into account when evaluating the risk benefit ratio. In this perspective, subcutaneous ICDs (S-ICDs) could carry an advantage; however, they cannot be considered in small children for technical reasons. Data on effectiveness and safety of S-ICDs in a pediatric population is still lacking, although some limited experiences are reported and will be discussed in the current review.

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Section: Pediatric Cardiomyopathiesmentioning

confidence: 98%

Section: Arrhythmogenic Cardiomyopathymentioning

confidence: 99%

Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators

2020

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“…Titin is the largest natural protein (38,138 residues, MR 4200 kDa) and is a giant protein with a length > 1 µm [63,64]. Although the TTN gene is not the largest, it is one of the largest with the greatest number of exons (363), as well as the largest single exon (17,106 bp).…”

Section: Titin (Ttn) (Encoded By Ttn)mentioning

confidence: 99%

“…Of note, an increasing number of ACM cases presenting with myocarditis-like 'hot phases' are being reported [135][136][137]. These episodes may mark the first development of disease or disease progression [138]. More attention is being paid to the theory that a 'genetically vulnerable myocardium' may be susceptible to myocarditis; however, data remain inconclusive thus far [22].…”

Section: Inflammationmentioning

confidence: 99%

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy

Patel

Asatryan

Siripanthong

et al. 2020

IJMS

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Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, posing a significant clinical challenge. Further to this, wider evaluation of family members has revealed incomplete penetrance and variable expressivity in ACM, suggesting a complex genotype-phenotype relationship. This review details the genetic basis of ACM with specific genotype-phenotype associations, providing the reader with a nuanced perspective of this condition; whilst also proposing a future roadmap to delivering precision medicine-based management in ACM.

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“…The prevalence of the disease is extremely different depending on the cohort and diagnosis criteria, varying from 5% to almost 30% [ 51 , 52 ]. Evidence concerning pediatric-onset ACM showed that, although rare, the disease may show features starting from childhood, with phenotypic expression comprising life-threatening arrhythmia, heart failure and myocardial inflammation [ 53 ]. The cardiac anomalies include right, left or biventricular disease variants with a genetic background related to the phenotypic expression, where RV involvement is associated with the plakophilin-2 ( PKP2 ) gene, LV implication with desmoplakin ( DSP ) and LMNA , while biventricular expression has a more diverse genetic background.…”

Section: Guidelines Perspectivementioning

confidence: 99%

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

Popa-Fotea

Cojocaru

Scafa-Udriște

et al. 2020

JCM

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Pediatric inherited cardiomyopathies (CMPs) and channelopathies (CNPs) remain important causes of death in this population, therefore, there is a need for prompt diagnosis and tailored treatment. Conventional evaluation fails to establish the diagnosis of pediatric CMPs and CNPs in a significant proportion, prompting further, more complex testing to make a diagnosis that could influence the implementation of lifesaving strategies. Genetic testing in CMPs and CNPs may help unveil the underlying cause, but needs to be carried out with caution given the lack of uniform recommendations in guidelines about the precise time to start the genetic evaluation or the type of targeted testing or whole-genome sequencing. A very diverse etiology and the scarce number of randomized studies of pediatric CMPs and CNPs make genetic testing of these maladies far more particular than their adult counterpart. The genetic diagnosis is even more puzzling if the psychological impact point of view is taken into account. This review aims to put together different perspectives, state-of-the art recommendations—synthetizing the major indications from European and American guidelines—and psychosocial outlooks to construct a comprehensive genetic assessment of pediatric CMPs and CNPs.

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Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

Cited by 73 publications

References 32 publications

Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators

Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

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