Familal left ventricular hypertrabeculation (noncompaction) is myopathic

Finsterer, Josef; Stöllberger, Claudia; Blazek, Gerhardt; Sehnal, Ernst

doi:10.1016/j.ijcard.2011.07.012

Cited by 36 publications

(14 citation statements)

References 54 publications

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Section: Consider a Mitochondrial Disorder When Left Ventricular Hypementioning

confidence: 99%

“…When family members of an affected patient are systematically screened genetically and echocardiographically, LVHT can often be found. 3,4 We wish to point out that LVHT is not necessarily a rare abnormality of cardiac development; the condition can also be acquired.5 Did the patient have previous echo cardiograms that could be reviewed for the presence or absence of LVHT?We respectfully disagree that cardiac magnetic resonance (CMR) is the gold standard for the diagnosis of LVHT: the condition might be missed on CMR, and the criteria to diagnose LVHT on CMR are vague.Neuromuscular disorders (NMDs) have also been associated with LVHT.6 Answers to these questions would be helpful: did the patient or his relatives undergo investigation for NMDs? Did the patient report symptoms indicative of an NMD?…”

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confidence: 99%

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Consider a Mitochondrial Disorder when Left Ventricular Hypertrabeculation/Noncompaction is Associated with Renal Cysts

Finsterer

Zarrouk‐Mahjoub

2014

Texas Heart Institute Journal

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In the operating room, the ambient temperature might be uncomfortably warm for the surgical team, for several reasons. During off-pump surgery, the temperature might purposely be kept high. Without use of the heartlung machine, it is important to avoid overcooling the patient, because rewarming can be difficult and take time. In tropical countries during summer, the atmospheric temperature might be so high that effective indoor cooling cannot be achieved. In some countries, power outages occur frequently, and uninterrupted electrical power is allocated to crucial infrastructure. Meanwhile, the surgical team is gowned and needs to stay focused.We have devised a simple way to remain cool. A ClearView ® Blower/Mister (Medtronic, Inc.; Minneapolis, Minn) is used to direct a jet of oxygen toward the surgeon, at a flow rate of only 2 to 3 L/min. This device-a fixture in our operating room for 10 years now-is kept outside the sterile field, at the anesthesiologist's side.Apart from the cooling, we think that the high oxygen concentration sharpens our senses and improves our surgical focus. Harinder Consider a Mitochondrial Disorder when Left Ventricular Hypertrabeculation/ Noncompaction is Associated with Renal CystsTo the Editor: We appreciated the article by Katukuri and colleagues 1 about the 37-year-old man who had left ventricular hypertrabeculation/noncompaction (LVHT) associated with polycystic kidney disease (PCKD). We wish to present some considerations that the authors might have been unable to discuss, given the length criteria for Images in Cardiovascular Medicine publications in the Journal.The authors speculate that the PCKD was caused by mutations in the patient's PCKD1 or PCKD2 genes.Polycystic kidney disease can arise from causes other than PCKD mutations.2 Renal cysts might be a phenotypic manifestation of a mitochondrial disorder (MID). Because LVHT has been associated with MIDs, this type of metabolic defect needs to be excluded. It would be enlightening to know whether the patient had cerebral, ocular, otologic, endocrine, gastrointestinal, dermal, or blood cell abnormalities. In addition, was an MID identified in the family history, beyond PCKD and unspecified cardiac disease in the father? When family members of an affected patient are systematically screened genetically and echocardiographically, LVHT can often be found. 3,4 We wish to point out that LVHT is not necessarily a rare abnormality of cardiac development; the condition can also be acquired.5 Did the patient have previous echo cardiograms that could be reviewed for the presence or absence of LVHT?We respectfully disagree that cardiac magnetic resonance (CMR) is the gold standard for the diagnosis of LVHT: the condition might be missed on CMR, and the criteria to diagnose LVHT on CMR are vague.Neuromuscular disorders (NMDs) have also been associated with LVHT.6 Answers to these questions would be helpful: did the patient or his relatives undergo investigation for NMDs? Did the patient report symptoms indicative of an NMD? Was his creat...

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Section: Consider a Mitochondrial Disorder When Left Ventricular Hypementioning

confidence: 99%

mentioning

confidence: 99%

Consider a Mitochondrial Disorder when Left Ventricular Hypertrabeculation/Noncompaction is Associated with Renal Cysts

Finsterer

Zarrouk‐Mahjoub

2014

Texas Heart Institute Journal

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“…In addition, it has been recognized that multiple (two or more) sarcomeric mutations may lead to a more severe phenotype, if compared with the association of a sarcomeric mutation and a nonsarcomeric mutation. 91 LVNC has been associated with a number of neuromuscular disorders, including myotonic dystrophy type 1 (DM1), dystrophinopathy, dystrobrevinopathy, myotonic dystrophy, zaspopathy, myoadenylate-deaminase deficiency, Charcot-Marie-Tooth disease, mitochondrial disorder, Barth syndrome, Friedreich's ataxia or Pompe's disease 7,92 (Table 1).…”

Section: Skeletal Muscle Involvement In Left Ventricular Noncompactionmentioning

confidence: 99%

Skeletal muscle involvement in cardiomyopathies

Limongelli

D’Alessandro

Maddaloni

et al. 2013

Journal of Cardiovascular Medicine

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The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation.

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“…Since LVHT occurs frequently in family members of LVHT patients [4], it would be of interest if relatives of the presented patient were investigated for LVHT. Was LVHT present in any of the first degree relatives of the presented patient?…”

Section: Dear Editormentioning

confidence: 99%