Methodist Journal

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ISSUE INTRO

The Scourge of Cardiogenic Shock

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RECOGNITIONS

Arvind Bhimaraj, MD, MPH, Guides Issue on Cardiogenic Shock

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REVIEW ARTICLES See More

Cardiovascular Implications of COVID-19 Infections

Pathophysiology and Advanced Hemodynamic Assessment of Cardiogenic Shock

Cardiogenic Shock in the Setting of Acute Myocardial Infarction

Cardiogenic Shock in Patients with Advanced Chronic Heart Failure

Acute Mechanical Circulatory Support for Cardiogenic Shock

Management of Cardiogenic Shock in a Cardiac Intensive Care Unit

Physiological Concepts of Cardiogenic Shock Using Pressure-Volume Loop Simulations: A Case-Based Review

Systems of Care in Cardiogenic Shock

CASE REPORTS See More

COVID-19: A Potential Risk Factor for Acute Pulmonary Embolism

Repair of Extent III Thoracoabdominal Aneurysm in the Presence of Aortoiliac Occlusion

Williams-Beuren Syndrome: The Role of Cardiac CT in Diagnosis

A Rare Case of Pancreatitis-Induced Thrombosis of the Aorta and Superior Mesenteric Artery

MUSEUM OF HMH MULTIMODALITY IMAGING CENTER See More

A T2-Weighty Discovery: Aortitis on Cardiac MRI with Histopathologic Correlation

CLINICAL PERSPECTIVES See More

POINTS TO REMEMBER

Acute Kidney Injury in Cardiogenic Shock

EXCERPTA

Cardio-Oncology, Then and Now: An Interview with Barry Trachtenberg

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Onconephrology: An Evolving Field

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Herbal Nephropathy

EDITORIALS

Letter to the Editor in Response to “Cardiac Autonomic Neuropathy in Diabetes Mellitus”

Vol 10, Issue 4 (2014)

Article Full Text

MUSEUM OF HMH MULTIMODALITY IMAGING CENTER

Left Ventricular Noncompaction Cardiomyopathy: Adult Association with 1p36 Deletion Syndrome

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Article Citation:

James Lee, Sarah Rinehart, and Venkateshewar Polsani  Left Ventricular Noncompaction Cardiomyopathy: Adult Association with 1p36 Deletion Syndrome. Methodist DeBakey Cardiovascular Journal. October 2014, Vol. 10, No. 4, pp. 258-259.

doi: https://doi.org/10.14797/mdcj-10-4-258

Keywords
left ventricular noncompaction cardiomyopathy , cardiomyopathy , 1p36 gene deletion , microdeletion syndrome

A 25-year-old patient with a 1p36 gene deletion was referred to cardiac magnetic resonance (CMR) imaging for evaluation of left ventricular noncompaction cardiomyopathy (LVNC). She had a recent history of palpitations that were not associated with chest pain or syncope. Electrocardiogram showed left ventricular hypertrophy with a strain pattern (Figure 1 H). Holter monitor showed only rare premature ventricular contractions. CMR showed prominent left ventricular trabeculation (Figure 1 A–E). The end diastolic compacted myocardium to noncompacted myocardium ratio met the CMR diagnostic criteria of > 2.3 for LVNC. No scar or thrombus was seen within the trabeculation on delayed contrast images (Figure 1 F–G). The patient was referred to electrophysiology for consideration of implantable cardiac defibrillator (ICD).

LVNC is a well-described cause of cardiomyopathy, and current criteria rely on echocardiography for diagnosis.1 CMR imaging is particularly useful for the diagnosis of LVNC.2 As LVNC is more commonly recognized, the identification of a genetic basis becomes increasingly important. LVNC has been described in a number of genetic syndromes, including 1p36.3 The development of the 1p36 gene deletion is a microdeletion syndrome that is a common cause of developmental delay and mental retardation, with a frequency of approximately 1 in 5,000 newborns.4 In a series of 60 patients with 1p36, Battaglia et al. described a 23% frequency of LVNC.5 Recently, the terminal 14 exons of the transcription factor PRDM16 in the 1p36 region were found to cause cardiomyopathy in patients with 1p36, LVNC, and dilated cardiomyopathy.6

We present, to the best of our knowledge, the first case of LVNC associated with a 1p36 deletion in an adult evaluated with CMR imaging. The role of ICD for primary prevention in this population is not fully delineated and requires further investigation.

Figure 1. Electrocardiogram (EKG) images of patient with left ventricular noncompaction cardiomyopathy. (A–E) Three short-axis, 4-chamber, and 3-chamber SSFP cine still frames showing increased trabeculation, meeting magnetic resonance imaging criteria for noncompaction cardiomyopathy. (F, G) Delayed-contrast enhanced images with high inversion time (T1600) showing no thrombus in noncompacted tissue. (H) EKG consistent with left ventricular hypertrophy with strain pattern.
Conflict of Interest Disclosure

Dr. Rinehart receives research support from Toshiba Medical Systems, Vital Images, Inc., Health Diagnostic Laboratory, Inc., Abbott Vascular, Inc., and Merck & Co., Inc.

References
1. Jenni R , Oechslin E , Schneider J , Attenhofer Jost C , Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86(6):66671. [Crossref]
2. Petersen SE , Selvanayagam JB , Wiesmann F , Robson MD , Francis JM , Anderson RH et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. 2005 Jul;46(1):1015. [Crossref]
3. Zaragoza MV , Arbustini E , Narula J. Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr. 2007 Dec;19(6):61927. [Crossref]
4. Gajecka M , Mackay KL , Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):34656. [Crossref]
5. Battaglia A , Hoyme HE , Dallapiccola B , Zackai E , Hudgins L , McDonald-McGinn D et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008 Feb;121(2):40410. [Crossref]
6. Arndt AK , Schafer S , Drenckhahn JD , Sabeh MK , Plovie ER , Caliebe A et al. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013 Jul 11;93(1):6777. [Crossref]

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