Dramatic electrocardiographic changes in a junior athlete with unpredictable hypertrophic cardiomyopathy

Gregorio, Cesare de; Magliarditi, Alberto; Magaudda, Ludovico

doi:10.1016/j.ijcard.2009.04.002

Cited by 2 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Unfortunately, the occurrence of HCM in children is sporadic explaining the rarity of familial HCM cases in paediatric age. HCM is genetically transmitted mainly by autosomal dominant (AD) inheritance though autosomal recessive (AR) form cannot be denied, particularly in populations were positive consanguinity is so prevalent [6][7][8]. This study included 10 familial HCM cases (7 families); 80% were males similar to the study of Greaves et al [14].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children

El-Saiedi¹

2014

Journal of Clinical & Experimental Cardiology

View full text Add to dashboard Cite

Background:No single mode of Inheritance is typical of Hypertrophic cardiomyopathy (HCM). Although autosomal dominant (AD) transmission is most common yet the existence of a recessive form of hypertrophic cardiomyopathy could neither be established nor disproved. This work aims to report the most common mode of inheritance among children with familial HCM who were recruited from the biggest tertiary referral hospital for young age cardiomyopathy in Egypt. Methodology and Results:This study included ten cases (7 families) with Familial HCM (8 males and 2 females; their mean age was 5.07 ± 2.36 years, ranging from 0.75 to 8.25 years). Each case subjected to threegeneration pedigree construction. Echocardiography was documented in all our cases and their families. In our study AD inheritance could be suspected in 30% of cases who had an affected parent. However, 70% of our cases had an affected relative (same generation), this fact together with the fact that 90% of our cases had positive Consanguinity of their parents support the existence of autosomal recessive (AR) inheritance. Penetrance of HCM is incomplete and age related as most of the cases showed more extensive phenotype and earlier age of presentation compared to their diseased parents. Asymmetrical septal hypertrophy (ASH) is considered the most common form of HCM in children. Conclusions and Recommendations:Autosomal recessive inheritance is the most common mode of inheritance among Egyptian patients with familial hypertrophic cardiomyopathy. Predictive genetic screening of family members of HCM patient is a must, on an attempt to decrease the risk of SCD.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Gene mutations previously known to cause adult onset HCM are detected in about half of childhood-onset sporadic HCM cases and in nearly two thirds of familial cases [6]. Moreover, many children with positive HCM genotype can't be disclosed before puberty as they may remain asymptomatic for years [7].…”

Section: Introductionmentioning

confidence: 99%

Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children

El-Saiedi¹

2014

Journal of Clinical & Experimental Cardiology

View full text Add to dashboard Cite

show abstract

“…Especially in athletes suspected to have hypertrophic cardiomyopathy [17,18], the ECG identifies those who should undergo further testing (cardiac ultrasound, magnetic resonance imaging, cardiopulmonary, detraining counter-evidence, others) to validate the diagnosis. In fact, according 2011 American Heart Association and American College of Cardiology guidelines on Hypertrophic Cardiomyopathy ECG is in Class I, level of evidence C [19].…”

Section: The Role Of Ecg In the Decision Makingmentioning

confidence: 99%

Dramatic electrocardiographic changes in a junior athlete with unpredictable hypertrophic cardiomyopathy

Cited by 2 publications

References 10 publications

Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children

Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children

Preparticipation Screening of Young Athletes: Why Still Open Questions on Performing an Electrocardiogram?

Contact Info

Product

Resources

About