Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

INTRODUCTION: Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort. METHODS: Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated. RESULTS: Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08). DISCUSSION: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.

Hypoplastic left heart with intact atrial septum and levoatriocardinal vein: a challenge in identifying aortic arch branches.

The levoatriocardinal vein provides alternative egress from the left atrium to the systemic veins in left-sided obstructive lesions. Although rare, it has been described in association with hypoplastic left heart syndrome. We report a case of hypoplastic left heart syndrome with levoatriocardinal vein and aberrant right subclavian artery where cardiac magnetic resonance imaging/angiography proved to be a valuable imaging modality for pre-operative evaluation.

Intervention for Supravalvar Pulmonary Stenosis After the Arterial Switch Operation.

BACKGROUND: The arterial switch operation is standard of care for infants born with dextrotransposition of the great arteries. Supravalvar pulmonary stenosis is a common complication that may require reintervention-balloon angioplasty, stenting, or surgical augmentation. A subset of patients requires more than one reintervention. METHODS: We performed a retrospective review of patients who underwent the arterial switch operation for dextrotransposition of the great arteries at a single institution between August 1990 and January 2014. Anatomic, perioperative and follow-up data were collected. Reinterventions were stratified in a site-specific manner. Statistical analysis was performed using IBM SPSS version 21 (IBM Corp, Armonk, NY). RESULTS: Of the 103 patients who met inclusion criteria, 28% (29) required reintervention for supravalvar pulmonary stenosis; 41% of those receiving primary reintervention required an additional 21 reinterventions. Balloon angioplasty of the main pulmonary artery and left pulmonary artery was associated with the need for multiple reinterventions (odds ratio 4.9, p = 0.051, and odds ratio 5.1, p = 0.029, respectively). Freedom from future reintervention at the main pulmonary artery and left pulmonary artery was significantly shorter after balloon angioplasty relative to alternative reintervention options (hazard ratio 10, p = 0.005, and hazard ratio 3.2, p = 0.02, respectively). Balloon angioplasty of the right pulmonary artery was not associated with an increased risk of reintervention (p = 0.42). CONCLUSIONS: Supravalvar pulmonary stenosis after the arterial switch operation for dextrotransposition of the great arteries is common and more than one reintervention are required in a subset of patients. The benefit of balloon angioplasty of the main pulmonary artery and left pulmonary artery was shown to be temporary. Attempting balloon angioplasties at these locations remain reasonable, although families should be counseled about the increased incidence of, and decreased time to, subsequent reintervention that is associated with this treatment option.