Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome)

Kolar, Anthony; Milroy, CM; Day, Peter; Suvarna, S. Kim

doi:10.1016/j.jflm.2007.09.002

Cited by 11 publications

(11 citation statements)

References 12 publications

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“…An illustrative example is provided by Kolar et al. (116) who present a case of an 18‐year old girl with PPK initially diagnosed with Papillon‐Lefevre syndrome (MIM #245000) who suddenly died of cardiac arrest. On forensic obduction, she turned out to have a DCM, as well as WH (and the already observed PPK), the combination of which suggests Carvajal syndrome.…”

Section: Clinical Relevancementioning

confidence: 99%

Skin and heart: une liaison dangereuse

Bolling

Jonkman

2009

Experimental Dermatology

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Both skin and heart are subject to shear mechanical stress and need to be stress-resistant in a flexible way. The intercellular connecting structures in skin and heart, the desmosomes, that have to resist these forces show remarkable resemblance in epidermis and myocardium. Mutations in desmosomal proteins lead to inherited desmosomal cardiocutaneous syndromes (DCCS): une liaison dangereuse. This article will critically review the cutaneous and cardiac features as well as the molecular background of DCCS, such as Naxos disease and Carvajal syndrome caused by deficiencies of plakoglobin and desmoplakin respectively. In addition, potential other desmosomal gene candidates for an involvement in cardiocutaneous syndromes are considered. The skin features in these syndromes may be the hallmark for the presence of progressive and ultimately lethal cardiac disease. Knowledge of these skin features and early recognition of such a syndrome may provide opportunities to halt or slow down cardiac disease progression, treat arrhythmias and even prevent sudden death.

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Section: Clinical Relevancementioning

confidence: 99%

Skin and heart: une liaison dangereuse

Bolling

Jonkman

2009

Experimental Dermatology

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“…A case of a 16‐year‐old female with occult Carvajal syndrome who was verbally abused and had “minor” direct trauma prior to running up a 100 m incline and then collapsing and dying has recently been reported. The authors of this case report discuss the possible role of “postexercise peril” in relation to her death (17). …”

Section: Discussionmentioning

confidence: 99%

Walk and Die: An Unusual Presentation of Head Injury

Veevers

Lawler²,

Rutty

2009

Journal of Forensic Sciences

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We report three deaths in young adult males following closed blunt trauma to the head and face where the affected individuals were able to walk away from the incident, before subsequently collapsing and dying a short distance from the site of the assault. In each case, due to the rapidity of the posttrauma collapse, the pathologist was faced with a diagnostic difficulty at autopsy; the external examination revealed multiple injuries to the head and face, but internal examinations showed limited findings with no structural explanation for the death. We discuss possible mechanisms that could account for this scenario, the implications of alcohol consumption with a concussive head injury, and parallels that can be drawn with the so-called "talk and die,""talk and deteriorate," and "second impact syndrome." Finally, the possible role of so-called "postexercise peril" is discussed in relation to these deaths.

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“…After approximately 100 m, she collapsed in cardiac arrest and could not be resuscitated. The post‐mortem examination revealed the following cardiac features 1 .…”

Section: Case Reportmentioning

confidence: 99%

“…The association between palmoplantar keratoderma, woolly hair, and cardiac abnormalities is well documented in Naxos and Carvajal syndrome, but few cases have reported additional dental findings. In 2005, a case of sudden death because of an undiagnosed cardiomyopathy was reported in a teenage girl who presented with dental, skin, nail, and hair anomalies 1 . While features of a number of dermatological and oral conditions were noted, such as Erythrokeratoderma Variablis (EKV), atypical ectodermal dysplasia (ED), and Papillion‐Lefevre syndrome (PLS), a definitive diagnosis was problematical because of the unusual presentation.…”

Section: Introductionmentioning

confidence: 99%