Methodist Journal

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ISSUE INTRO

The Burgeoning Field of Cardio-Oncology

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RECOGNITIONS

Barry H. Trachtenberg Leads Issue on Cardio-Oncology

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REVIEW ARTICLES See More

Heart Failure in Relation to Anthracyclines and Other Chemotherapies

Heart Failure in Relation to Tumor-Targeted Therapies and Immunotherapies

The Role of Cardiovascular Imaging and Serum Biomarkers in Identifying Cardiotoxicity Related to Cancer Therapeutics

Prevention and Treatment of Chemotherapy-Induced Cardiotoxicity

Cardiovascular Toxicities of Radiation Therapy

Electrophysiologic Complications in Cancer Patients

Vascular Toxicity in Patients with Cancer: Is There a Recipe to Clarify Treatment?

Future Directions in Cardio-Oncology

CASE REPORTS See More

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

Anomalous Origin of the Right Coronary Artery from the Left Main Coronary Artery in the Setting of Critical Bicuspid Aortic Valve Stenosis

Simultaneous Transfemoral Mitral and Tricuspid Valve in Ring Implantation: First Case Report with Edwards Sapien 3 Valve

Uneventful Follow-Up 2 Years after Endovascular Treatment of a High Flow Iatrogenic Aortocaval Fistula Causing Pulmonary Hypertension and Right Heart Failure

MUSEUM OF HMH MULTIMODALITY IMAGING CENTER See More

Do Not Pass Flow: Microvascular Obstruction on Cardiac Magnetic Resonance After Reinfarction Following Primary Percutaneous Coronary Intervention

CLINICAL PERSPECTIVES See More

EXCERPTA

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

POINTS TO REMEMBER

Onconephrology: An Evolving Field

POINTS TO REMEMBER

Herbal Nephropathy

EXCERPTA

Rolling the Dice on Red Yeast Rice

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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