Left ventricular noncompaction in a patient with multiminicore disease

Şimşek, Zeki; Açar, Göksel; Akçakoyun, Mustafa; Esen, Özlem; Emiroğlu, Yunus; Esen, Ali Metin

doi:10.2459/jcm.0b013e32833cdcd0

Cited by 11 publications

(3 citation statements)

References 13 publications

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“… 90) A case report of multiminicore disease-associated LVHT has been described. 91) CI has also been reported in multiminicore disease due to MYH7 mutations. 92) Rarely, patients with central core disease and intractable dCMP may require HTX.…”

Section: Resultsmentioning

confidence: 87%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

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Section: Resultsmentioning

confidence: 87%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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“…Finally, diagnosing the underlying condition enables more accurate genetic counseling for the family. Table 2 Syndromes and copy number variants (CNV) associated with LVNC Syndromes associated with aneuploidies Turner syndrome [1,43] Trisomy 21 [27] Trisomy 18 [5] Trisomy 13 [25] Syndromes associated with copy number variations Velocardiofacial syndrome [21,29] 1p36 deletion syndrome [4] Syndromes associated with neuromuscular diseases Duchenne muscular dystrophy; Becker muscular dystrophy [17,38] Limb girdle muscular dystrophy [20] Multiminicore disease [37] Other syndromes Sotos syndrome [24] Marfan syndrome [18] Noonan syndrome [2] LEOPARD syndrome [19] Cornelia De Lange syndrome [9] Roifman syndrome [22] Hypomelanosis of Ito [8] Nail patella syndrome [12] Other CNV 8p23.1 deletion [6] Trisomic for the 4q31 ? qter region and monosomic for the 1q43 ?…”

Section: Discussionmentioning

confidence: 99%

Left Ventricular Non-compaction: Is It Genetic?

et al. 2015

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Left ventricular non-compaction (LVNC) is reported to affect 0.14 % of the pediatric population. The etiology is heterogeneous and includes a wide number of genetic causes. As an illustration, we report two patients with LVNC who were diagnosed with a genetic syndrome. We then review the literature and suggest a diagnostic algorithm to evaluate individuals with LVNC. Case 1 is a 15-month-old girl who presented with hypotonia, global developmental delay, congenital heart defect (including LVNC) and facial dysmorphism. Case 2 is a 7-month-old girl with hypotonia, seizures, laryngomalacia and LVNC. We performed chromosomal microarray for both our patients and detected chromosome 1p36 microdeletion. We reviewed the literature for other genetic causes of LVNC and formulated a diagnostic algorithm, which includes assessment for syndromic disorders, inborn error of metabolism, copy number variants and non-syndromic monogenic disorder associated with LVNC. LVNC is a relatively newly recognized entity, with heterogeneity in underlying etiology. For a systematic approach of evaluating the underlying cause to improve clinical care of these patients, a diagnostic algorithm for genetic evaluation of patients with LVNC is proposed.

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“…100 In 143 cases of nemaline myopathy, 6 neonates developed transient HF and 1 infant developed LV dysfunction with congenital long-QT syndrome. 101 In another study with 66 patients with CM, no cardiac lesions were noted 102 ; however, hypertrophic, [103][104][105] dilated, [106][107][108][109][110] and LVNC cardiomyopathy phenotypes, 111,112 as well as sudden death, 113 have been described. Recessive mutations in TTN (encoding titin) and MYH7 (encoding myosin heavy chain-7) have been associated with minicore-like disease, with early development of dilated cardiomyopathy, ventricular arrhythmias, and sudden cardiac death.…”

Section: E208mentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

212

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Left ventricular noncompaction in a patient with multiminicore disease

Cited by 11 publications

References 13 publications

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Left Ventricular Non-compaction: Is It Genetic?

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

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