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Case Reports
. 2011 Oct 4:2011:bcr0320114019.
doi: 10.1136/bcr.03.2011.4019.

Accelerated coronary atherosclerosis and H syndrome

Ravindranath K Shankarappa  1 , Rajiv Ananthakrishna, Ravi S Math, Sachin Dhareppa Yalagudri, Satish Karur, Ramesh Dwarakaprasad, Manjunath C Nanjappa, Vered Molho-Pessach
Affiliations
Case Reports

Accelerated coronary atherosclerosis and H syndrome

Ravindranath K Shankarappa et al. BMJ Case Rep. .

Abstract

A 12-year-old boy with insulin dependent diabetes mellitus, presented with acute myocardial infarction. Intracoronary thrombolysis with urokinase restored TIMI III flow in the culprit vessel. After stabilisation with medical therapy, unusual clinical findings in the form of cutaneous hyperpigmentation and hypertrichosis, affecting the lower extremities, were appreciated. These and other phenotypic features were consistent with H syndrome, a recently described autosomal recessive genodermatosis, and confirmed by mutation analysis. Despite being on optimal medical therapy for coronary artery disease, the patient presented 3 months thereafter, with unstable angina which was successfully managed with percutaneous coronary intervention. An unusual occurrence of coronary artery disease with accelerated atherosclerosis in a child with H syndrome is presented herein. Identification of further patients with this novel disorder will clarify the possible association, suggested here, with increased risk for coronary or other vascular events.

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Conflict of interest statement

Competing interests None.

Figures

Figure 1
Figure 1
ECG during index hospitalisation. (A) ECG on admission showing ST segment elevation in the inferior and lateral leads. (B) ST segment resolution after intracoronary administration of urokinase.
Figure 2
Figure 2
(A–D) Coronary angiogram (CAG) during index hospitalisation. (E, F) CAG during second admission for unstable angina. (A, B) CAG in right anterior oblique (RAO) caudal and left anterior oblique (LAO) caudal views depicting thrombus in the proximal left circumflex (LCX). The left main coronary artery (LMCA) and left anterior descending artery (LAD) are normal. (C, D) CAG demonstrating dissolution of thrombus without residual lesion after intracoronary administration of urokinase. (E) Repeat CAG after 3 months in RAO caudal showing distal LMCA bifurcation disease (50% stenosis) with a 90% narrowing of the ostio-proximal LAD and ostial LCX. (F) Result after deployment of drug eluting stent (DES) from distal LMCA to proximal LAD.
Figure 3
Figure 3
Phenotypic characteristics. (A) Hyperpigmented, hypertrichotic patches over the lower extremities. (B) Dermatological lesions sparing the knee.
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts